Dilated cardiomyopathy pathophysiology: Difference between revisions

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__NOTOC__
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{{Dilated cardiomyopathy}}
{{Dilated cardiomyopathy}}


{{CMG}}; '''Associate Editor-in-Chief:''' Sachin Shah, M.D.
{{CMG}}; {{AE}} Sachin Shah, M.D.; Jennifer Hall; {{AIA}}


==Overview==
==Overview==
Cardiomyopathies are defined as a heterogeneous group of diseases of the heart associated with a mechanical and/or electrical dysfunction that usually (but not always) exhibit inappropropriate [[ventricular hypertrophy]] or [[dilation]] and are due to a variety of causes that frequently are [[genetic]]. <ref name="pmid16567565">{{cite journal| author=Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D et al.| title=Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. | journal=Circulation | year= 2006 | volume= 113 | issue= 14 | pages= 1807-16 | pmid=16567565 | doi=10.1161/CIRCULATIONAHA.106.174287 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16567565  }} </ref> Phenotypic characteristics typically include [[ventricular chamber enlargement]] and [[systolic dysfunction]] with normal [[wall thickness]].<ref name="pmid16567565">{{cite journal| author=Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D et al.| title=Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. | journal=Circulation | year= 2006 | volume= 113 | issue= 14 | pages= 1807-16 | pmid=16567565 |  doi=10.1161/CIRCULATIONAHA.106.174287 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16567565  }} </ref> Patients with dilated cardiomyopathy may experience a progressive decline in left ventricular [[contractile function]], ventricular and supraventricular [[arrhythmias]], [[conduction system]] problems, [[thromboembolism]], [[sudden cardiac death]] and/or [[heart failure]]. <ref name="pmid16567565">{{cite journal| author=Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D et al.| title=Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. | journal=Circulation | year= 2006 | volume= 113 | issue= 14 | pages= 1807-16 | pmid=16567565 | doi=10.1161/CIRCULATIONAHA.106.174287 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16567565  }} </ref>Dilated cardiomyopathy is the third most common cause of [[heart failure]]. <ref name="pmid16567565">{{cite journal| author=Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D et al| title=Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. | journal=Circulation | year= 2006 | volume= 113 | issue= 14 | pages= 1807-16 | pmid=16567565 | doi=10.1161/CIRCULATIONAHA.106.174287 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16567565  }} </ref>
[[Cardiomyopathy|Cardiomyopathies]] are defined as a heterogeneous group of diseases of the heart associated with a mechanical and/or electrical dysfunction that usually (but not always) exhibit inappropropriate [[ventricular hypertrophy]] or [[dilation]] and are due to a variety of causes that frequently are [[genetic]]. Phenotypic characteristics typically include [[ventricular chamber enlargement]] and [[systolic dysfunction]] with normal [[wall thickness]]. Patients with dilated cardiomyopathy may experience a progressive decline in left ventricular [[contractile function]], ventricular and supraventricular [[arrhythmias]], [[conduction system]] problems, [[thromboembolism]], [[sudden cardiac death]] and/or [[heart failure]]. Dilated cardiomyopathy is the third most common cause of [[heart failure]].


==Pathophysiology==
==Pathophysiology==


===Genetics===
=== Physiology ===
The normal physiology of [[myocardium]] can be understood as follows:


Our understanding of the role of [[genetics]] in [[dilated cardiomyopathy]] continues to grow. Inherited familial dilated cardiomyopathy has been associated with 50 mutations in [[genes]] encoding [[cytoskeletal]], [[nucleoskeletal]], [[mitochondrial]] and [[calcium handling proteins]] <ref name="pmid23281406">{{cite journal| author=McNally EM, Golbus JR, Puckelwartz MJ| title=Genetic mutations and mechanisms in dilated cardiomyopathy. | journal=J Clin Invest | year= 2013 | volume= 123 | issue= 1 | pages= 19-26 | pmid=23281406 | doi=10.1172/JCI62862 | pmc=PMC3533274 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23281406 }} </ref>
* The myocardium is composed of specialized [[cardiac muscle]] cells with an ability not possessed by muscle tissue elsewhere in the body. Cardiac muscle, like other muscles, can [[Muscle contraction|contract]], but it can also carry an [[action potential]] (i.e. conduct electricity), like the [[neurones]] that constitute [[Nerve|nerves]].
These mutations are listed below.
*The cardiac myocyte is a specialized muscle cell, which is composed of bundles of [[Myofibril|myofibrils]] that contain myofilaments. The myofibrils have distinct micro-anatomical units, called "[[Sarcomere|sarcomeres]]", which are considered as the basic contractile units of the cardiac cell. The [[sarcomere]] is defined as the region of myofilament structures between two Z-lines. The distance between Z-lines ranges between 1.6 and 2.2 μ. The [[sarcomere]] is composed of thick ([[myosin]]) and thin [[actin|(actin]]) filaments. The chemical and physical interactions between the [[actin]] and [[myosin]] shortens the sarcomere length and the myocyte to contract during the process of [[excitation-contraction coupling]], which is known as the "sliding filament theory of [[muscle contraction]]".<ref name="pmid20852049">{{cite journal| author=Janssen PM| title=Myocardial contraction-relaxation coupling. | journal=Am J Physiol Heart Circ Physiol | year= 2010 | volume= 299 | issue= 6 | pages= H1741-9 | pmid=20852049 | doi=10.1152/ajpheart.00759.2010 | pmc=3006276 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20852049 }}</ref>
*Genes Encoding Plasma Membrane Proteins
**Caveolin 3, CAV3
**Laminin alpha 4, LAMA4
**Sarcoglycan delta, SGCD


*Genes Encoding Cytoskeletal Proteins
[[File:Wiki Sarcomere.svg.png|center|thumb|Figure. Sarcomere, pictured with component proteins actin, myosin, titin, etc.]]<br />
**Actin, alpha, cardiac muscle 1, ACTC1
=== Pathogenesis ===
**Actinin, alpha 2, ACTN2
[[Dilated cardiomyopathy]] usually results from a failed physiological response to myocyte injury. Mocyte injury can generally end in one of three outcomes: Immediate myocyte [[cell death]], delayed myocyte cell death ([[apoptosis]]), or pathological compensatory response.<ref name="pmid31073128">{{cite journal| author=Schultheiss HP, Fairweather D, Caforio ALP, Escher F, Hershberger RE, Lipshultz SE et al.| title=Dilated cardiomyopathy. | journal=Nat Rev Dis Primers | year= 2019 | volume= 5 | issue= 1 | pages= 32 | pmid=31073128 | doi=10.1038/s41572-019-0084-1 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31073128  }}</ref> The third outcome usually results in a cycle that occurs as follows:
**Ankyrin repeat domain 1, ANKRD1
**BCL2-associated athanogene 3, BAG3
**[[Cardiotropin]], [[CTF1]]
**Cysteine and glycine-rich protein 3, CSRP3
** Desmin, DES
**Dystrophin, DMD
**


*Genes Encoding Nuclear Proteins
* [[Myocyte]] injury
**ATP-binding cassette, sub-family C, member 9, ABCC9
* Hypertrophy of the remaining myocytes to increased wall stress
* Hyperadrenergic response
* Dynamic [[remodeling]] of the interstitial myocardial skeleton (e.g. [[fibrosis]]).
* Reduced diastolic function and increased ventricular dilatation.
* Distortion of valvular apparatus
* Increased ventricular [[afterload]]
* Initiating the process of [[Congestive heart failure|heart failure]] that causes more myocyte injury.<ref name="pmid28190577">{{cite journal| author=Weintraub RG, Semsarian C, Macdonald P| title=Dilated cardiomyopathy. | journal=Lancet | year= 2017 | volume= 390 | issue= 10092 | pages= 400-414 | pmid=28190577 | doi=10.1016/S0140-6736(16)31713-5 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28190577  }}</ref>


==Genetics==
Our understanding of the role of [[genetics]] in [[dilated cardiomyopathy]] continues to grow. Inherited familial dilated cardiomyopathy has been associated with 50 mutations in [[genes]] encoding [[cytoskeletal]], [[nucleoskeletal]], [[mitochondrial]] and calcium handling proteins.<ref name="pmid23281406">{{cite journal| author=McNally EM, Golbus JR, Puckelwartz MJ| title=Genetic mutations and mechanisms in dilated cardiomyopathy. | journal=J Clin Invest | year= 2013 | volume= 123 | issue= 1 | pages= 19-26 | pmid=23281406 | doi=10.1172/JCI62862 | pmc=PMC3533274 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23281406 }} </ref> These mutations are listed below.


====Genes Encoding Plasma Membrane Proteins====
{| class="wikitable" border="1" style="background:FloralWhite"
|-
| style="background: #efefef; width:50%" | '''Gene'''
| style="background: #efefef; width:20%" | '''Abbreviation'''
|-
| [[Laminin alpha 4]]|| [[LAMA4]]<ref name="pmid17646580">{{cite journal| author=Knöll R, Postel R, Wang J, Krätzner R, Hennecke G, Vacaru AM et al.| title=Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells. | journal=Circulation | year= 2007 | volume= 116 | issue= 5 | pages= 515-25 | pmid=17646580 | doi=10.1161/CIRCULATIONAHA.107.689984 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17646580 }} </ref>
|-
| [[Sarcoglycan delta]]|| [[SGCD]]<ref name="pmid10974018"><nowiki>{{cite journal| author=Tsubata S, Bowles KR, Vatta M, Zintz C, Titus J, Muhonen L et al.| title=Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. | journal=J Clin Invest | year= 2000 | volume= 106 | issue= 5 | pages= 655-62 | pmid=10974018 | doi=10.1172/JCI9224 | pmc=PMC381284 | url=</nowiki>http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10974018 </ref><ref name="pmid18285821">{{cite journal| author=Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C et al.| title=Revised spectrum of mutations in sarcoglycanopathies. | journal=Eur J Hum Genet | year= 2008 | volume= 16 | issue= 7 | pages= 793-803 | pmid=18285821 | doi=10.1038/ejhg.2008.9 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18285821 }} </ref>
|-
|}


====Genes Encoding Cytoskeletal Proteins====
{| class="wikitable" border="1" style="background:FloralWhite"
|-
| style="background: #efefef; width:50%" | '''Gene'''
| style="background: #efefef; width:20%" | '''Abbreviation'''
|-
| [[Actin, alpha, cardiac muscle 1]] || [[ACTC1]]<ref name="pmid9563954">{{cite journal| author=Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT| title=Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. | journal=Science | year= 1998 | volume= 280 | issue= 5364 | pages= 750-2 | pmid=9563954 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9563954 }} </ref>
|-
| [[Actinin, alpha 2]] || [[ACTN2]]<ref name="pmid14567970">{{cite journal| author=Mohapatra B, Jimenez S, Lin JH, Bowles KR, Coveler KJ, Marx JG et al.| title=Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. | journal=Mol Genet Metab | year= 2003 | volume= 80 | issue= 1-2 | pages= 207-15 | pmid=14567970 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14567970 }} </ref>
|-
| [[Ankyrin repeat domain 1]] || [[ANKRD1]]<ref name="pmid19525294">{{cite journal| author=Duboscq-Bidot L, Charron P, Ruppert V, Fauchier L, Richter A, Tavazzi L et al.| title=Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy. | journal=Eur Heart J | year= 2009 | volume= 30 | issue= 17 | pages= 2128-36 | pmid=19525294 | doi=10.1093/eurheartj/ehp225 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19525294 }} </ref>
|-
| [[BCL2-associated athanogene 3]] || [[BAG3]]<ref name="pmid21353195">{{cite journal| author=Norton N, Li D, Rieder MJ, Siegfried JD, Rampersaud E, Züchner S et al.| title=Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. | journal=Am J Hum Genet | year= 2011 | volume= 88 | issue= 3 | pages= 273-82 | pmid=21353195 | doi=10.1016/j.ajhg.2011.01.016 | pmc=PMC3059419 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21353195 }} </ref>
|-
| [[Cardiotropin]] || [[CTF1]]<ref name="pmid11058912">{{cite journal| author=Erdmann J, Hassfeld S, Kallisch H, Fleck E, Regitz-Zagrose V| title=Genetic variants in the promoter (g983G>T) and coding region (A92T) of the human cardiotrophin-1 gene (CTF1) in patients with dilated cardiomyopathy. | journal=Hum Mutat | year= 2000 | volume= 16 | issue= 5 | pages= 448 | pmid=11058912 | doi=10.1002/1098-1004(200011)16:5<448::AID-HUMU19>3.0.CO;2-D | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11058912 }} </ref>
|-
| [[Cysteine and glycine-rich protein 3]] || [[CSRP3]]<ref name="pmid14567970">{{cite journal| author=Mohapatra B, Jimenez S, Lin JH, Bowles KR, Coveler KJ, Marx JG et al.| title=Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. | journal=Mol Genet Metab | year= 2003 | volume= 80 | issue= 1-2 | pages= 207-15 | pmid=14567970 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14567970 }} </ref>
|-
| [[Desmin]] || [[DES]]<ref name="pmid10430757">{{cite journal| author=Li D, Tapscoft T, Gonzalez O, Burch PE, Quiñones MA, Zoghbi WA et al.| title=Desmin mutation responsible for idiopathic dilated cardiomyopathy. | journal=Circulation | year= 1999 | volume= 100 | issue= 5 | pages= 461-4 | pmid=10430757 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10430757 }} </ref> <ref name="pmid17720647">{{cite journal| author=Bergman JE, Veenstra-Knol HE, van Essen AJ, van Ravenswaaij CM, den Dunnen WF, van den Wijngaard A et al.| title=Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene. | journal=Eur J Med Genet | year= 2007 | volume= 50 | issue= 5 | pages= 355-66 | pmid=17720647 | doi=10.1016/j.ejmg.2007.06.003 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17720647 }} </ref>
|-
| [[Desmoplakin]] || [[DSP]]<ref name="pmid11063735">{{cite journal| author=Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE et al.| title=Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. | journal=Hum Mol Genet | year= 2000 | volume= 9 | issue= 18 | pages= 2761-6 | pmid=11063735 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11063735 }} </ref><ref name="pmid16467215">{{cite journal| author=Uzumcu A, Norgett EE, Dindar A, Uyguner O, Nisli K, Kayserili H et al.| title=Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. | journal=J Med Genet | year= 2006 | volume= 43 | issue= 2 | pages= e5 | pmid=16467215 | doi=10.1136/jmg.2005.032904 | pmc=PMC2564645 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16467215 }} </ref><ref name="pmid23137101">{{cite journal| author=Rasmussen TB, Hansen J, Nissen PH, Palmfeldt J, Dalager S, Jensen UB et al.| title=Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms. | journal=Clin Genet | year= 2013 | volume= 84 | issue= 1 | pages= 20-30 | pmid=23137101 | doi=10.1111/cge.12056 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23137101 }} </ref>
|-
| [[DNAJ (Hsp40) homology, subfamily C, member 19]] || [[DNAJC19]]<ref name="pmid16055927">{{cite journal| author=Davey KM, Parboosingh JS, McLeod DR, Chan A, Casey R, Ferreira P et al.| title=Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. | journal=J Med Genet | year= 2006 | volume= 43 | issue= 5 | pages= 385-93 | pmid=16055927 | doi=10.1136/jmg.2005.036657 | pmc=PMC2564511 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16055927 }} </ref>
|-
| [[Dystrophin]] || [[DMD]]<ref name="pmid9683584">{{cite journal| author=Ferlini A, Galié N, Merlini L, Sewry C, Branzi A, Muntoni F| title=A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy. | journal=Am J Hum Genet | year= 1998 | volume= 63 | issue= 2 | pages= 436-46 | pmid=9683584 | doi=10.1086/301952 | pmc=PMC1377294 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9683584 }} </ref><ref name="pmid9170407">{{cite journal| author=Ortiz-Lopez R, Li H, Su J, Goytia V, Towbin JA| title=Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. | journal=Circulation | year= 1997 | volume= 95 | issue= 10 | pages= 2434-40 | pmid=9170407 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9170407 }} </ref><ref name="pmid12794683">{{cite journal| author=Todorova A, Constantinova D, Kremensky I| title=Dilated cardiomyopathy and new 16 bp deletion in exon 44 of the Dystrophin gene: the possible role of repeated motifs in mutation generation. | journal=Am J Med Genet A | year= 2003 | volume= 120A | issue= 1 | pages= 5-7 | pmid=12794683 | doi=10.1002/ajmg.a.10264 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12794683 }} </ref><ref name="pmid8789442">{{cite journal| author=Milasin J, Muntoni F, Severini GM, Bartoloni L, Vatta M, Krajinovic M et al.| title=A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. | journal=Hum Mol Genet | year= 1996 | volume= 5 | issue= 1 | pages= 73-9 | pmid=8789442 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8789442 }} </ref><ref name="pmid8361506">{{cite journal| author=Muntoni F, Cau M, Ganau A, Congiu R, Arvedi G, Mateddu A et al.| title=Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. | journal=N Engl J Med | year= 1993 | volume= 329 | issue= 13 | pages= 921-5 | pmid=8361506 | doi=10.1056/NEJM199309233291304 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8361506 }} </ref><ref name="pmid8123157">{{cite journal| author=Towbin JA, Ortiz-Lopez R| title=X-linked dilated cardiomyopathy. | journal=N Engl J Med | year= 1994 | volume= 330 | issue= 5 | pages= 369-70 | pmid=8123157 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8123157 }} </ref><ref name="pmid7825571">{{cite journal| author=Muntoni F, Melis MA, Ganau A, Dubowitz V| title=Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. | journal=Am J Hum Genet | year= 1995 | volume= 56 | issue= 1 | pages= 151-7 | pmid=7825571 | doi= | pmc=PMC1801315 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7825571 }} </ref>
|-
| [[Eyes absent homology 4]] || [[EYA4]]<ref name="pmid10769282">{{cite journal| author=Schönberger J, Levy H, Grünig E, Sangwatanaroj S, Fatkin D, MacRae C et al.| title=Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24. | journal=Circulation | year= 2000 | volume= 101 | issue= 15 | pages= 1812-8 | pmid=10769282 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10769282 }} </ref>
<ref name="pmid15735644">{{cite journal| author=Schönberger J, Wang L, Shin JT, Kim SD, Depreux FF, Zhu H et al.| title=Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. | journal=Nat Genet | year= 2005 | volume= 37 | issue= 4 | pages= 418-22 | pmid=15735644 | doi=10.1038/ng1527 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15735644 }} </ref>
|-
| [[Four and a half LIM domains 2]] || [[FHL2]]<ref name="pmid17416352">{{cite journal| author=Arimura T, Hayashi T, Matsumoto Y, Shibata H, Hiroi S, Nakamura T et al.| title=Structural analysis of four and half LIM protein-2 in dilated cardiomyopathy. | journal=Biochem Biophys Res Commun | year= 2007 | volume= 357 | issue= 1 | pages= 162-7 | pmid=17416352 | doi=10.1016/j.bbrc.2007.03.128 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17416352 }} </ref>
|-
| [[Fukutin]] || [[FKTN]]<ref name="pmid17036286">{{cite journal| author=Murakami T, Hayashi YK, Noguchi S, Ogawa M, Nonaka I, Tanabe Y et al.| title=Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. | journal=Ann Neurol | year= 2006 | volume= 60 | issue= 5 | pages= 597-602 | pmid=17036286 | doi=10.1002/ana.20973 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17036286 }} </ref>
|-
| [[Lysosomal-associated membrane protein 2]] || [[LAMP2]]<ref name="pmid17899313">{{cite journal| author=Taylor MR, Ku L, Slavov D, Cavanaugh J, Boucek M, Zhu X et al.| title=Danon disease presenting with dilated cardiomyopathy and a complex phenotype. | journal=J Hum Genet | year= 2007 | volume= 52 | issue= 10 | pages= 830-5 | pmid=17899313 | doi=10.1007/s10038-007-0184-8 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17899313 }} </ref>
|-
| [[LIM domain binding 3]] || [[LDB3]]<ref name="pmid14662268">{{cite journal| author=Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z et al.| title=Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. | journal=J Am Coll Cardiol | year= 2003 | volume= 42 | issue= 11 | pages= 2014-27 | pmid=14662268 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14662268 }} </ref><ref name="pmid19377068">{{cite journal| author=Arimura T, Inagaki N, Hayashi T, Shichi D, Sato A, Hinohara K et al.| title=Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy. | journal=Cardiovasc Res | year= 2009 | volume= 83 | issue= 1 | pages= 80-8 | pmid=19377068 | doi=10.1093/cvr/cvp119 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19377068 }} </ref><ref name="pmid14660611">{{cite journal| author=Arimura T, Hayashi T, Terada H, Lee SY, Zhou Q, Takahashi M et al.| title=A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. | journal=J Biol Chem | year= 2004 | volume= 279 | issue= 8 | pages= 6746-52 | pmid=14660611 | doi=10.1074/jbc.M311849200 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14660611 }} </ref><ref name="pmid19412328">{{cite journal| author=Hershberger RE, Parks SB, Kushner JD, Li D, Ludwigsen S, Jakobs P et al.| title=Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. | journal=Clin Transl Sci | year= 2008 | volume= 1 | issue= 1 | pages= 21-6 | pmid=19412328 | doi=10.1111/j.1752-8062.2008.00017.x | pmc=PMC2633921 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19412328 }} </ref>
|-
| [[Myosin binding protein C, cardiac]] || [[MYBPC3]]<ref name="pmid22892539">{{cite journal| author=Meyer T, Ruppert V, Ackermann S, Richter A, Perrot A, Sperling SR et al.| title=Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy. | journal=Eur J Hum Genet | year= 2013 | volume= 21 | issue= 3 | pages= 294-300 | pmid=22892539 | doi=10.1038/ejhg.2012.173 | pmc=PMC3573205 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22892539 }} </ref>
|-
| [[Myosin, heavy chain 6, cardiac muscle, alpha]] || [[MYH6]]<ref name="pmid15998695">{{cite journal| author=Carniel E, Taylor MR, Sinagra G, Di Lenarda A, Ku L, Fain PR et al.| title=Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. | journal=Circulation | year= 2005 | volume= 112 | issue= 1 | pages= 54-9 | pmid=15998695 | doi=10.1161/CIRCULATIONAHA.104.507699 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15998695 }} </ref>
|-
| [[Myosin, heavy chain 7, cardiac muscle, alpha]] || [[MYH7]]<ref name="pmid12379228">{{cite journal| author=Daehmlow S, Erdmann J, Knueppel T, Gille C, Froemmel C, Hummel M et al.| title=Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. | journal=Biochem Biophys Res Commun | year= 2002 | volume= 298 | issue= 1 | pages= 116-20 | pmid=12379228 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12379228 }} </ref>|
<ref name="pmid11106718">{{cite journal| author=Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B et al.| title=Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. | journal=N Engl J Med | year= 2000 | volume= 343 | issue= 23 | pages= 1688-96 | pmid=11106718 | doi=10.1056/NEJM200012073432304 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11106718 }} </ref>
|-
|[[Nexilin (F actin binding protein)]] || [[NEXN]]<ref name="pmid19881492">{{cite journal| author=Hassel D, Dahme T, Erdmann J, Meder B, Huge A, Stoll M et al.| title=Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. | journal=Nat Med | year= 2009 | volume= 15 | issue= 11 | pages= 1281-8 | pmid=19881492 | doi=10.1038/nm.2037 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19881492 }} </ref>
|-
| [[Presenilin 1]] || [[PSEN1]]<ref name="pmid17186461">{{cite journal| author=Li D, Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S et al.| title=Mutations of presenilin genes in dilated cardiomyopathy and heart failure. | journal=Am J Hum Genet | year= 2006 | volume= 79 | issue= 6 | pages= 1030-9 | pmid=17186461 | doi=10.1086/509900 | pmc=PMC1698711 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17186461 }} </ref>
|-
| [[Presenilin 2]] || [[PSEN2]]<ref name="pmid17186461">{{cite journal| author=Li D, Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S et al.| title=Mutations of presenilin genes in dilated cardiomyopathy and heart failure. | journal=Am J Hum Genet | year= 2006 | volume= 79 | issue= 6 | pages= 1030-9 | pmid=17186461 | doi=10.1086/509900 | pmc=PMC1698711 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17186461 }} </ref>
|-
| [[RNA binding motif protein 20]] || [[RBM20]]<ref name="pmid19712804">{{cite journal| author=Brauch KM, Karst ML, Herron KJ, de Andrade M, Pellikka PA, Rodeheffer RJ et al.| title=Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. | journal=J Am Coll Cardiol | year= 2009 | volume= 54 | issue= 10 | pages= 930-41 | pmid=19712804 | doi=10.1016/j.jacc.2009.05.038 | pmc=PMC2782634 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19712804 }} </ref><ref name="pmid20590677">{{cite journal| author=Li D, Morales A, Gonzalez-Quintana J, Norton N, Siegfried JD, Hofmeyer M et al.| title=Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. | journal=Clin Transl Sci | year= 2010 | volume= 3 | issue= 3 | pages= 90-7 | pmid=20590677 | doi=10.1111/j.1752-8062.2010.00198.x | pmc=PMC2898174 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20590677 }} </ref>
|-
| [[Sarcoglycan alpha]] || [[SGCD]]<ref name="pmid10974018">{{cite journal| author=Tsubata S, Bowles KR, Vatta M, Zintz C, Titus J, Muhonen L et al.| title=Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. | journal=J Clin Invest | year= 2000 | volume= 106 | issue= 5 | pages= 655-62 | pmid=10974018 | doi=10.1172/JCI9224 | pmc=PMC381284 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10974018 }} </ref><ref name="pmid18285821">{{cite journal| author=Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C et al.| title=Revised spectrum of mutations in sarcoglycanopathies. | journal=Eur J Hum Genet | year= 2008 | volume= 16 | issue= 7 | pages= 793-803 | pmid=18285821 | doi=10.1038/ejhg.2008.9 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18285821 }} </ref>
|-
| [[Sodium channel, volatage-gated, type V, alpha subunit]] || [[SCN5A]]<ref name="pmid19412328">{{cite journal| author=Hershberger RE, Parks SB, Kushner JD, Li D, Ludwigsen S, Jakobs P et al.| title=Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. | journal=Clin Transl Sci | year= 2008 | volume= 1 | issue= 1 | pages= 21-6 | pmid=19412328 | doi=10.1111/j.1752-8062.2008.00017.x | pmc=PMC2633921 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19412328 }} </ref><ref name="pmid22999724">{{cite journal| author=Mann SA, Castro ML, Ohanian M, Guo G, Zodgekar P, Sheu A et al.| title=R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy. | journal=J Am Coll Cardiol | year= 2012 | volume= 60 | issue= 16 | pages= 1566-73 | pmid=22999724 | doi=10.1016/j.jacc.2012.05.050 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22999724 }} </ref><ref name="pmid20458009">{{cite journal| author=Morales A, Painter T, Li R, Siegfried JD, Li D, Norton N et al.| title=Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy. | journal=Circulation | year= 2010 | volume= 121 | issue= 20 | pages= 2176-82 | pmid=20458009 | doi=10.1161/CIRCULATIONAHA.109.931220 | pmc=PMC2900861 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20458009 }} </ref><ref name="pmid21167004">{{cite journal| author=Cheng J, Morales A, Siegfried JD, Li D, Norton N, Song J et al.| title=SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del. | journal=Clin Transl Sci | year= 2010 | volume= 3 | issue= 6 | pages= 287-94 | pmid=21167004 | doi=10.1111/j.1752-8062.2010.00249.x | pmc=PMC3026282 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21167004 }} </ref><ref name="pmid15671429">{{cite journal| author=Olson TM, Michels VV, Ballew JD, Reyna SP, Karst ML, Herron KJ et al.| title=Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. | journal=JAMA | year= 2005 | volume= 293 | issue= 4 | pages= 447-54 | pmid=15671429 | doi=10.1001/jama.293.4.447 | pmc=PMC2039897 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15671429 }} </ref><ref name="pmid15466643">{{cite journal| author=McNair WP, Ku L, Taylor MR, Fain PR, Dao D, Wolfel E et al.| title=SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. | journal=Circulation | year= 2004 | volume= 110 | issue= 15 | pages= 2163-7 | pmid=15466643 | doi=10.1161/01.CIR.0000144458.58660.BB | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15466643 }} </ref>
|-
| [[Tafazzin]] || [[TAZ]]<ref name="pmid9382096">{{cite journal| author=D'Adamo P, Fassone L, Gedeon A, Janssen EA, Bione S, Bolhuis PA et al.| title=The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. | journal=Am J Hum Genet | year= 1997 | volume= 61 | issue= 4 | pages= 862-7 | pmid=9382096 | doi=10.1086/514886 | pmc=PMC1715993 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9382096 }} </ref><ref name="pmid11896212">{{cite journal| author=Bissler JJ, Tsoras M, Göring HH, Hug P, Chuck G, Tombragel E et al.| title=Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle. | journal=Lab Invest | year= 2002 | volume= 82 | issue= 3 | pages= 335-44 | pmid=11896212 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11896212 }} </ref>
|-
| [[Thymopoietin]] || [[TMPO]]<ref name="pmid16247757">{{cite journal| author=Taylor MR, Slavov D, Gajewski A, Vlcek S, Ku L, Fain PR et al.| title=Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy. | journal=Hum Mutat | year= 2005 | volume= 26 | issue= 6 | pages= 566-74 | pmid=16247757 | doi=10.1002/humu.20250 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16247757 }} </ref>
|-
| [[Troponin C type 1 (slow)]] || [[TNNC1]]<ref name="pmid15542288">{{cite journal| author=Mogensen J, Murphy RT, Shaw T, Bahl A, Redwood C, Watkins H et al.| title=Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. | journal=J Am Coll Cardiol | year= 2004 | volume= 44 | issue= 10 | pages= 2033-40 | pmid=15542288 | doi=10.1016/j.jacc.2004.08.027 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15542288 }} </ref>
|-
| [[Troponin I type 3 (cardiac)]] || [[TNNI3]]<ref name="pmid15070570">{{cite journal| author=Murphy RT, Mogensen J, Shaw A, Kubo T, Hughes S, McKenna WJ| title=Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. | journal=Lancet | year= 2004 | volume= 363 | issue= 9406 | pages= 371-2 | pmid=15070570 | doi=10.1016/S0140-6736(04)15468-8 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15070570 }} </ref><ref name="pmid19590045">{{cite journal| author=Carballo S, Robinson P, Otway R, Fatkin D, Jongbloed JD, de Jonge N et al.| title=Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. | journal=Circ Res | year= 2009 | volume= 105 | issue= 4 | pages= 375-82 | pmid=19590045 | doi=10.1161/CIRCRESAHA.109.196055 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19590045 }} </ref>
|-
| [[Troponin T type 2 (cardiac)]] || [[TNNT2]]<ref name="pmid11106718">{{cite journal| author=Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B et al.| title=Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. | journal=N Engl J Med | year= 2000 | volume= 343 | issue= 23 | pages= 1688-96 | pmid=11106718 | doi=10.1056/NEJM200012073432304 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11106718 }} </ref><ref name="pmid11862580">{{cite journal| author=Hanson EL, Jakobs PM, Keegan H, Coates K, Bousman S, Dienel NH et al.| title=Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathy. | journal=J Card Fail | year= 2002 | volume= 8 | issue= 1 | pages= 28-32 | pmid=11862580 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11862580 }} </ref><ref name="pmid15542288">{{cite journal| author=Mogensen J, Murphy RT, Shaw T, Bahl A, Redwood C, Watkins H et al.| title=Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. | journal=J Am Coll Cardiol | year= 2004 | volume= 44 | issue= 10 | pages= 2033-40 | pmid=15542288 | doi=10.1016/j.jacc.2004.08.027 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15542288 }} </ref><ref name="pmid20031601">{{cite journal| author=Hershberger RE, Pinto JR, Parks SB, Kushner JD, Li D, Ludwigsen S et al.| title=Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy. | journal=Circ Cardiovasc Genet | year= 2009 | volume= 2 | issue= 4 | pages= 306-13 | pmid=20031601 | doi=10.1161/CIRCGENETICS.108.846733 | pmc=PMC2900844 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20031601 }} </ref><ref name="pmid20079745">{{cite journal| author=Sfichi-Duke L, Garcia-Cazarin ML, Sumandea CA, Sievert GA, Balke CW, Zhan DY et al.| title=Cardiomyopathy-causing deletion K210 in cardiac troponin T alters phosphorylation propensity of sarcomeric proteins. | journal=J Mol Cell Cardiol | year= 2010 | volume= 48 | issue= 5 | pages= 934-42 | pmid=20079745 | doi=10.1016/j.yjmcc.2010.01.005 | pmc=PMC2854196 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20079745 }} </ref><ref name="pmid11773635">{{cite journal| author=Morimoto S, Lu QW, Harada K, Takahashi-Yanaga F, Minakami R, Ohta M et al.| title=Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy. | journal=Proc Natl Acad Sci U S A | year= 2002 | volume= 99 | issue= 2 | pages= 913-8 | pmid=11773635 | doi=10.1073/pnas.022628899 | pmc=PMC117405 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11773635 }} </ref><ref name="pmid20978592">{{cite journal| author=Otten E, Lekanne Dit Deprez RH, Weiss MM, van Slegtenhorst M, Joosten M, van der Smagt JJ et al.| title=Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy. | journal=Neth Heart J | year= 2010 | volume= 18 | issue= 10 | pages= 478-85 | pmid=20978592 | doi= | pmc=PMC2954300 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20978592 }} </ref>
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| [[Tropomyosin 1 (alpha)]] || [[TPM1]]<ref name="pmid11273725">{{cite journal| author=Olson TM, Kishimoto NY, Whitby FG, Michels VV| title=Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. | journal=J Mol Cell Cardiol | year= 2001 | volume= 33 | issue= 4 | pages= 723-32 | pmid=11273725 | doi=10.1006/jmcc.2000.1339 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11273725 }} </ref><ref name="pmid20117437">{{cite journal| author=Lakdawala NK, Dellefave L, Redwood CS, Sparks E, Cirino AL, Depalma S et al.| title=Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. | journal=J Am Coll Cardiol | year= 2010 | volume= 55 | issue= 4 | pages= 320-9 | pmid=20117437 | doi=10.1016/j.jacc.2009.11.017 | pmc=PMC3000630 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20117437 }} </ref>
|-
| [[Titin]] || [[TTN]]<ref name="pmid11846417">{{cite journal| author=Itoh-Satoh M, Hayashi T, Nishi H, Koga Y, Arimura T, Koyanagi T et al.| title=Titin mutations as the molecular basis for dilated cardiomyopathy. | journal=Biochem Biophys Res Commun | year= 2002 | volume= 291 | issue= 2 | pages= 385-93 | pmid=11846417 | doi=10.1006/bbrc.2002.6448 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11846417 }} </ref><ref name="pmid11788824">{{cite journal| author=Gerull B, Gramlich M, Atherton J, McNabb M, Trombitás K, Sasse-Klaassen S et al.| title=Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. | journal=Nat Genet | year= 2002 | volume= 30 | issue= 2 | pages= 201-4 | pmid=11788824 | doi=10.1038/ng815 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11788824 }} </ref><ref name="pmid10051295">{{cite journal| author=Siu BL, Niimura H, Osborne JA, Fatkin D, MacRae C, Solomon S et al.| title=Familial dilated cardiomyopathy locus maps to chromosome 2q31. | journal=Circulation | year= 1999 | volume= 99 | issue= 8 | pages= 1022-6 | pmid=10051295 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10051295 }} </ref>
|-
| [[Vinculin]] || [[VCL]]<ref name="pmid11815424">{{cite journal| author=Olson TM, Illenberger S, Kishimoto NY, Huttelmaier S, Keating MT, Jockusch BM| title=Metavinculin mutations alter actin interaction in dilated cardiomyopathy. | journal=Circulation | year= 2002 | volume= 105 | issue= 4 | pages= 431-7 | pmid=11815424 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11815424 }} </ref><ref name="pmid16236538">{{cite journal| author=Vasile VC, Will ML, Ommen SR, Edwards WD, Olson TM, Ackerman MJ| title=Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy. | journal=Mol Genet Metab | year= 2006 | volume= 87 | issue= 2 | pages= 169-74 | pmid=16236538 | doi=10.1016/j.ymgme.2005.08.006 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16236538 }} </ref>
|-
|}


====Genes Encoding Calcium Handling Proteins====
{| class="wikitable" border="1" style="background:FloralWhite"
|-
| style="background: #efefef; width:50%" | '''Gene'''
| style="background: #efefef; width:20%" | '''Abbreviation'''
|-
| [[Phospholamban]] || [[PLN]]<ref name="pmid18241046">{{cite journal| author=Haghighi K, Chen G, Sato Y, Fan GC, He S, Kolokathis F et al.| title=A human phospholamban promoter polymorphism in dilated cardiomyopathy alters transcriptional regulation by glucocorticoids. | journal=Hum Mutat | year= 2008 | volume= 29 | issue= 5 | pages= 640-7 | pmid=18241046 | doi=10.1002/humu.20692 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18241046 }} </ref><ref name="pmid16432188">{{cite journal| author=Haghighi K, Kolokathis F, Gramolini AO, Waggoner JR, Pater L, Lynch RA et al.| title=A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. | journal=Proc Natl Acad Sci U S A | year= 2006 | volume= 103 | issue= 5 | pages= 1388-93 | pmid=16432188 | doi=10.1073/pnas.0510519103 | pmc=PMC1360586 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16432188 }} </ref><ref name="pmid12610310">{{cite journal| author=Schmitt JP, Kamisago M, Asahi M, Li GH, Ahmad F, Mende U et al.| title=Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. | journal=Science | year= 2003 | volume= 299 | issue= 5611 | pages= 1410-3 | pmid=12610310 | doi=10.1126/science.1081578 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12610310 }} </ref><ref name="pmid21282613">{{cite journal| author=Ha KN, Masterson LR, Hou Z, Verardi R, Walsh N, Veglia G et al.| title=Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A. | journal=Proc Natl Acad Sci U S A | year= 2011 | volume= 108 | issue= 7 | pages= 2735-40 | pmid=21282613 | doi=10.1073/pnas.1013987108 | pmc=PMC3041113 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21282613 }} </ref><ref name="pmid17010801">{{cite journal| author=DeWitt MM, MacLeod HM, Soliven B, McNally EM| title=Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy. | journal=J Am Coll Cardiol | year= 2006 | volume= 48 | issue= 7 | pages= 1396-8 | pmid=17010801 | doi=10.1016/j.jacc.2006.07.016 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17010801 }} </ref><ref name="pmid19324307">{{cite journal| author=Posch MG, Perrot A, Geier C, Boldt LH, Schmidt G, Lehmkuhl HB et al.| title=Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes. | journal=Heart Rhythm | year= 2009 | volume= 6 | issue= 4 | pages= 480-6 | pmid=19324307 | doi=10.1016/j.hrthm.2009.01.016 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19324307 }} </ref><ref name="pmid22155237">{{cite journal| author=Haghighi K, Pritchard T, Bossuyt J, Waggoner JR, Yuan Q, Fan GC et al.| title=The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase. | journal=J Mol Cell Cardiol | year= 2012 | volume= 52 | issue= 3 | pages= 773-82 | pmid=22155237 | doi=10.1016/j.yjmcc.2011.11.012 | pmc=PMC3376549 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22155237 }} </ref><ref name="pmid22820313">{{cite journal| author=van der Zwaag PA, van Rijsingen IA, Asimaki A, Jongbloed JD, van Veldhuisen DJ, Wiesfeld AC et al.| title=Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. | journal=Eur J Heart Fail | year= 2012 | volume= 14 | issue= 11 | pages= 1199-207 | pmid=22820313 | doi=10.1093/eurjhf/hfs119 | pmc=PMC3475434 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22820313 }} </ref>
|-
|}


====Genes Encoding Mitochondrial Proteins====
{| class="wikitable" border="1" style="background:FloralWhite"
|-
| style="background: #efefef; width:50%" | '''Gene'''
| style="background: #efefef; width:20%" | '''Abbreviation'''
|-
| [[Succinate dehydrogenase complex, subunit A, flavoprotein]] || [[SDHA]]<ref name="pmid20551992">{{cite journal| author=Levitas A, Muhammad E, Harel G, Saada A, Caspi VC, Manor E et al.| title=Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. | journal=Eur J Hum Genet | year= 2010 | volume= 18 | issue= 10 | pages= 1160-5 | pmid=20551992 | doi=10.1038/ejhg.2010.83 | pmc=PMC2987458 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20551992 }} </ref>
|-
|}


====Genes Encoding Nuclear Proteins====
{| class="wikitable" border="1" style="background:FloralWhite"
|-
| style="background: #efefef; width:50%" | '''Gene'''
| style="background: #efefef; width:20%" | '''Abbreviation'''
|-
| [[ATP-binding cassette, sub-family C, member 9]] || [[ABCC9]]<ref name="pmid15034580">{{cite journal| author=Bienengraeber M, Olson TM, Selivanov VA, Kathmann EC, O'Cochlain F, Gao F et al.| title=ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. | journal=Nat Genet | year= 2004 | volume= 36 | issue= 4 | pages= 382-7 | pmid=15034580 | doi=10.1038/ng1329 | pmc=PMC1995438 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15034580 }} </ref>
|-
| [[Lamin A/C]] || [[LMNA]]<ref name="pmid21085127">{{cite journal| author=Małek LA, Labib S, Mazurkiewicz L, Saj M, Płoski R, Tesson F et al.| title=A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation. | journal=J Hum Genet | year= 2011 | volume= 56 | issue= 1 | pages= 83-6 | pmid=21085127 | doi=10.1038/jhg.2010.137 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21085127 }} </ref><ref name="pmid10580070">{{cite journal| author=Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M et al.| title=Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. | journal=N Engl J Med | year= 1999 | volume= 341 | issue= 23 | pages= 1715-24 | pmid=10580070 | doi=10.1056/NEJM199912023412302 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10580070 }} </ref><ref name="pmid12920062">{{cite journal| author=Sébillon P, Bouchier C, Bidot LD, Bonne G, Ahamed K, Charron P et al.| title=Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. | journal=J Med Genet | year= 2003 | volume= 40 | issue= 8 | pages= 560-7 | pmid=12920062 | doi= | pmc=PMC1735561 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12920062 }} </ref><ref name="pmid12196663">{{cite journal| author=van der Kooi AJ, Bonne G, Eymard B, Duboc D, Talim B, Van der Valk M et al.| title=Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. | journal=Neurology | year= 2002 | volume= 59 | issue= 4 | pages= 620-3 | pmid=12196663 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12196663 }} </ref><ref name="pmid23644458">{{cite journal| author=Ho CY, Jaalouk DE, Vartiainen MK, Lammerding J| title=Lamin A/C and emerin regulate MKL1-SRF activity by modulating actin dynamics. | journal=Nature | year= 2013 | volume= 497 | issue= 7450 | pages= 507-11 | pmid=23644458 | doi=10.1038/nature12105 | pmc=PMC3666313 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23644458 }} </ref><ref name="pmid12628721">{{cite journal| author=Taylor MR, Fain PR, Sinagra G, Robinson ML, Robertson AD, Carniel E et al.| title=Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. | journal=J Am Coll Cardiol | year= 2003 | volume= 41 | issue= 5 | pages= 771-80 | pmid=12628721 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12628721 }} </ref><ref name="pmid12673789">{{cite journal| author=Charniot JC, Pascal C, Bouchier C, Sébillon P, Salama J, Duboscq-Bidot L et al.| title=Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype. | journal=Hum Mutat | year= 2003 | volume= 21 | issue= 5 | pages= 473-81 | pmid=12673789 | doi=10.1002/humu.10170 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12673789 }} </ref><ref name="pmid10662742">{{cite journal| author=Brodsky GL, Muntoni F, Miocic S, Sinagra G, Sewry C, Mestroni L| title=Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. | journal=Circulation | year= 2000 | volume= 101 | issue= 5 | pages= 473-6 | pmid=10662742 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10662742 }} </ref>
|-
| [[Spectrin repeat containing, nuclear envelope 2]] || [[SYNE2]]<ref name="pmid17761684">{{cite journal| author=Zhang Q, Bethmann C, Worth NF, Davies JD, Wasner C, Feuer A et al.| title=Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. | journal=Hum Mol Genet | year= 2007 | volume= 16 | issue= 23 | pages= 2816-33 | pmid=17761684 | doi=10.1093/hmg/ddm238 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17761684 }} </ref>
|-
|}


The roar of whole exome and whole genome sequencing technology has significantly increased the number of rare variants that are associated with dilated cardiomyopathy <ref name="pmid23281406">{{cite journal| author=McNally EM, Golbus JR, Puckelwartz MJ| title=Genetic mutations and mechanisms in dilated cardiomyopathy. | journal=J Clin Invest | year= 2013 | volume= 123 | issue= 1 | pages= 19-26 | pmid=23281406 | doi=10.1172/JCI62862 | pmc=PMC3533274 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23281406 }} </ref>. A challenge in the field today is that many individuals without disease carry rare variants in their genome. Thus the task at hand is not in the sequencing but rather in the translation to define if the rare variants discovered are in fact pathophysiologic in nature. Secondly, evidence is accumulating that many patients with dilated cardiomyopathy may have many different mutations that contribute to or modify disease. <ref name="pmid22763267">{{cite journal| author=Golbus JR, Puckelwartz MJ, Fahrenbach JP, Dellefave-Castillo LM, Wolfgeher D, McNally EM| title=Population-based variation in cardiomyopathy genes. | journal=Circ Cardiovasc Genet | year= 2012 | volume= 5 | issue= 4 | pages= 391-9 | pmid=22763267 | doi=10.1161/CIRCGENETICS.112.962928 | pmc=PMC3495587 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22763267 }} </ref>
The increase in whole exome and whole genome sequencing has significantly increased the number of rare variants that are associated with dilated cardiomyopathy <ref name="pmid23281406">{{cite journal| author=McNally EM, Golbus JR, Puckelwartz MJ| title=Genetic mutations and mechanisms in dilated cardiomyopathy. | journal=J Clin Invest | year= 2013 | volume= 123 | issue= 1 | pages= 19-26 | pmid=23281406 | doi=10.1172/JCI62862 | pmc=PMC3533274 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23281406 }} </ref>. A challenge in the field today is that many individuals without disease carry rare variants in their genome. Thus the task at hand is not in the sequencing but rather in the translation to define if the rare variants discovered are in fact pathophysiologic in nature. Secondly, evidence is accumulating that many patients with dilated cardiomyopathy may have many different mutations that contribute to or modify disease. <ref name="pmid22763267">{{cite journal| author=Golbus JR, Puckelwartz MJ, Fahrenbach JP, Dellefave-Castillo LM, Wolfgeher D, McNally EM| title=Population-based variation in cardiomyopathy genes. | journal=Circ Cardiovasc Genet | year= 2012 | volume= 5 | issue= 4 | pages= 391-9 | pmid=22763267 | doi=10.1161/CIRCGENETICS.112.962928 | pmc=PMC3495587 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22763267 }} </ref>
 
==Associated Conditions==
===Associated Conditions===
A review of systems is also helpful in regards to connective tissue disease associated dilated cardiomyopathy. Some of the disease that can be associated with dilated cardiomyopathy are:
A review of systems is also helpful in regards to connective tissue disease associated dilated cardiomyopathy. Some of the disease that can be associated with dilated cardiomyopathy are:
*SLE ([[systemic lupus erythematosis]])
*S[[systemic lupus erythematosis|ystemic lupus erythematosis]]
*[[Rheumatoid arthritis]]
*[[Rheumatoid arthritis]]
*[[Sarcoidosis]]
*[[Sarcoidosis]]
*[[Scleroderma]]
*[[Scleroderma]]
*[[Connective tissue]] diseases
*[[Connective tissue]] disease
*[[Pericardial effusion]] - It may accompany myocarditis but this finding is not specific.
*[[Pericardial effusion]] - It may accompany myocarditis but this finding is not specific.


===Gross Pathology===
==Gross Pathology==
Images shown below are Courtesy of Professor Peter Anderson DVM PhD and published with permission. [http://www.peir.net © PEIR, University of Alabama at Birmingham, Department of Pathology]
On gross pathological examination, the heart may show


<div align="left">
* Globular heart (markedly dilated ventricles > 4 cm at the level of [[papillary muscle]]<nowiki/>s)
<gallery heights="175" widths="175">
* Patchy [[fibrosis]] in the [[epicardium]]
Image:414.jpg|Cardiomyopathy: Gross excellent view of mitral valve from left atrium anterior leaflet appears to balloon a bit into the atrium
* Endocardial thickening (Cardiac fibroelastosis)
Image:415.jpg|Cardiomyopathy: Gross excellent view of mitral and tricuspid valves from atria, appear normal anatomy.
* Ballooning of valve leaflets into the atria
</gallery>
*Few patients show left ventricular non-compaction or minimally dilated ventricles.
</div>
*


Images shown below are Courtesy of Professor Peter Anderson DVM PhD and published with permission. [http://www.peir.net © PEIR, University of Alabama at Birmingham, Department of Pathology]


<div align="left">
<div align="left">
<gallery heights="175" widths="175">
<gallery heights="175" widths="175">
Image:6621.jpg|Dilated Cardiomyopathy: Gross natural color close-up view of heart surgically removed for a transplantation shows aortic valve and anterior leaflet of mitral valve with cholesterol deposits endocardium of left ventricle is diffusely thickened
Image:414.jpg|Cardiomyopathy: Gross view from the left atrium, in which the mitral valve anterior leaflet appears to balloon a bit into the atrium
Image:434.jpg|Cardiomyopathy: Gross external view of globular heart with patchy fibrosis seen through epicardium
Image:415.jpg|Cardiomyopathy: Gross view of mitral and tricuspid valves from the atria, showing normal anatomy.
</gallery>
</gallery>
</div>
</div>


<div align="left">
<div align="left">
<gallery heights="175" widths="175">
<gallery heights="175" widths="175">
Image:874.jpg|Cardiomyopathy: Gross dilated left ventricle with marked endocardial thickening this is what has been called adult fibroelastosis
Image:874.jpg|Cardiomyopathy: Gross dilated left ventricle with marked endocardial thickening "adult fibroelastosis"
Image:1134.jpg|Dilated Cardiomyopathy: Gross good example huge dilated left ventricle
Image:1134.jpg|Dilated Cardiomyopathy: Gross dilated left ventricle
</gallery>
</gallery>
</div>
</div>


<div align="left">
<div align="left">
<gallery heights="175" widths="175">
<gallery heights="175" widths="175">
Image:1151.jpg|Dilated Cardiomyopathy: Gross dilated left ventricle with marked endocardial sclerosis (an excellent example)
Image:1151.jpg|Dilated Cardiomyopathy: Gross dilated left ventricle with marked endocardial sclerosis  
Image:1457.jpg|Cardiomyopathy: Gross intact globular shaped heart
Image:1457.jpg|Cardiomyopathy: Gross intact globular shaped heart
</gallery>
</gallery>
</div>
</div>


<div align="left">
<div align="left">
<gallery heights="175" widths="175">
<gallery heights="175" widths="175">
Image:1489.jpg|Dilated Cardiomyopathy: Gross opened left ventricle dilated with endocardial thickening good example
Image:1489.jpg|Dilated Cardiomyopathy: Gross opened dilated left ventricle with endocardial thickening  
Image:1509.jpg|Cardiomyopathy: Gross globular heart external view 10 year old girl with sickle cell anemia
Image:1509.jpg|Cardiomyopathy: Gross globular heart (external view) in a 10-year old girl with sickle cell anemia
</gallery>
</gallery>
</div>
</div>


<div align="left">
<div align="left">
Line 98: Line 213:
</gallery>
</gallery>
</div>
</div>


<div align="left">
<div align="left">
<gallery heights="175" widths="175">
<gallery heights="175" widths="175">
Image:2665.jpg|Dilated Cardiomyopathy: Gross opened globular left ventricle natural color (very good example)
Image:2665.jpg|Dilated Cardiomyopathy: Gross opened globular left ventricle
Image:6224.jpg|Dilated Cardiomyopathy: Gross natural color external view globular heart 500 gm 24yo female seven pregnancies
</gallery>
</gallery>
</div>
</div>
==Microscopic Pathology==
On microscopic pathological examination, the heart may show
* Variations in myocyte size
* Interstitial fibrosis
* Myofiber disarray
* Transmural scars may be present.
* Further, microscopic examination can verify the underlying cause as inflammation, amyloid, iron, and granulomas.<ref name="pmid20189027">{{cite journal| author=Jefferies JL, Towbin JA| title=Dilated cardiomyopathy. | journal=Lancet | year= 2010 | volume= 375 | issue= 9716 | pages= 752-62 | pmid=20189027 | doi=10.1016/S0140-6736(09)62023-7 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20189027  }}</ref>


==References==
==References==
Line 111: Line 233:


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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sachin Shah, M.D.; Jennifer Hall; Abdelrahman Ibrahim Abushouk, MD[2]

Overview

Cardiomyopathies are defined as a heterogeneous group of diseases of the heart associated with a mechanical and/or electrical dysfunction that usually (but not always) exhibit inappropropriate ventricular hypertrophy or dilation and are due to a variety of causes that frequently are genetic. Phenotypic characteristics typically include ventricular chamber enlargement and systolic dysfunction with normal wall thickness. Patients with dilated cardiomyopathy may experience a progressive decline in left ventricular contractile function, ventricular and supraventricular arrhythmias, conduction system problems, thromboembolism, sudden cardiac death and/or heart failure. Dilated cardiomyopathy is the third most common cause of heart failure.

Pathophysiology

Physiology

The normal physiology of myocardium can be understood as follows:

  • The myocardium is composed of specialized cardiac muscle cells with an ability not possessed by muscle tissue elsewhere in the body. Cardiac muscle, like other muscles, can contract, but it can also carry an action potential (i.e. conduct electricity), like the neurones that constitute nerves.
  • The cardiac myocyte is a specialized muscle cell, which is composed of bundles of myofibrils that contain myofilaments. The myofibrils have distinct micro-anatomical units, called "sarcomeres", which are considered as the basic contractile units of the cardiac cell. The sarcomere is defined as the region of myofilament structures between two Z-lines. The distance between Z-lines ranges between 1.6 and 2.2 μ. The sarcomere is composed of thick (myosin) and thin (actin) filaments. The chemical and physical interactions between the actin and myosin shortens the sarcomere length and the myocyte to contract during the process of excitation-contraction coupling, which is known as the "sliding filament theory of muscle contraction".[1]
Figure. Sarcomere, pictured with component proteins actin, myosin, titin, etc.

Pathogenesis

Dilated cardiomyopathy usually results from a failed physiological response to myocyte injury. Mocyte injury can generally end in one of three outcomes: Immediate myocyte cell death, delayed myocyte cell death (apoptosis), or pathological compensatory response.[2] The third outcome usually results in a cycle that occurs as follows:

  • Myocyte injury
  • Hypertrophy of the remaining myocytes to increased wall stress
  • Hyperadrenergic response
  • Dynamic remodeling of the interstitial myocardial skeleton (e.g. fibrosis).
  • Reduced diastolic function and increased ventricular dilatation.
  • Distortion of valvular apparatus
  • Increased ventricular afterload
  • Initiating the process of heart failure that causes more myocyte injury.[3]

Genetics

Our understanding of the role of genetics in dilated cardiomyopathy continues to grow. Inherited familial dilated cardiomyopathy has been associated with 50 mutations in genes encoding cytoskeletal, nucleoskeletal, mitochondrial and calcium handling proteins.[4] These mutations are listed below.

Genes Encoding Plasma Membrane Proteins

Gene Abbreviation
Laminin alpha 4 LAMA4[5]
Sarcoglycan delta SGCD[6][7]

Genes Encoding Cytoskeletal Proteins

Gene Abbreviation
Actin, alpha, cardiac muscle 1 ACTC1[8]
Actinin, alpha 2 ACTN2[9]
Ankyrin repeat domain 1 ANKRD1[10]
BCL2-associated athanogene 3 BAG3[11]
Cardiotropin CTF1[12]
Cysteine and glycine-rich protein 3 CSRP3[9]
Desmin DES[13] [14]
Desmoplakin DSP[15][16][17]
DNAJ (Hsp40) homology, subfamily C, member 19 DNAJC19[18]
Dystrophin DMD[19][20][21][22][23][24][25]
Eyes absent homology 4 EYA4[26]

[27]

Four and a half LIM domains 2 FHL2[28]
Fukutin FKTN[29]
Lysosomal-associated membrane protein 2 LAMP2[30]
LIM domain binding 3 LDB3[31][32][33][34]
Myosin binding protein C, cardiac MYBPC3[35]
Myosin, heavy chain 6, cardiac muscle, alpha MYH6[36]
Myosin, heavy chain 7, cardiac muscle, alpha MYH7[37]|

[38]

Nexilin (F actin binding protein) NEXN[39]
Presenilin 1 PSEN1[40]
Presenilin 2 PSEN2[40]
RNA binding motif protein 20 RBM20[41][42]
Sarcoglycan alpha SGCD[6][7]
Sodium channel, volatage-gated, type V, alpha subunit SCN5A[34][43][44][45][46][47]
Tafazzin TAZ[48][49]
Thymopoietin TMPO[50]
Troponin C type 1 (slow) TNNC1[51]
Troponin I type 3 (cardiac) TNNI3[52][53]
Troponin T type 2 (cardiac) TNNT2[38][54][51][55][56][57][58]
Tropomyosin 1 (alpha) TPM1[59][60]
Titin TTN[61][62][63]
Vinculin VCL[64][65]

Genes Encoding Calcium Handling Proteins

Gene Abbreviation
Phospholamban PLN[66][67][68][69][70][71][72][73]

Genes Encoding Mitochondrial Proteins

Gene Abbreviation
Succinate dehydrogenase complex, subunit A, flavoprotein SDHA[74]

Genes Encoding Nuclear Proteins

Gene Abbreviation
ATP-binding cassette, sub-family C, member 9 ABCC9[75]
Lamin A/C LMNA[76][77][78][79][80][81][82][83]
Spectrin repeat containing, nuclear envelope 2 SYNE2[84]

The increase in whole exome and whole genome sequencing has significantly increased the number of rare variants that are associated with dilated cardiomyopathy [4]. A challenge in the field today is that many individuals without disease carry rare variants in their genome. Thus the task at hand is not in the sequencing but rather in the translation to define if the rare variants discovered are in fact pathophysiologic in nature. Secondly, evidence is accumulating that many patients with dilated cardiomyopathy may have many different mutations that contribute to or modify disease. [85]

Associated Conditions

A review of systems is also helpful in regards to connective tissue disease associated dilated cardiomyopathy. Some of the disease that can be associated with dilated cardiomyopathy are:

Gross Pathology

On gross pathological examination, the heart may show

  • Globular heart (markedly dilated ventricles > 4 cm at the level of papillary muscles)
  • Patchy fibrosis in the epicardium
  • Endocardial thickening (Cardiac fibroelastosis)
  • Ballooning of valve leaflets into the atria
  • Few patients show left ventricular non-compaction or minimally dilated ventricles.

Images shown below are Courtesy of Professor Peter Anderson DVM PhD and published with permission. © PEIR, University of Alabama at Birmingham, Department of Pathology

  • Cardiomyopathy: Gross view from the left atrium, in which the mitral valve anterior leaflet appears to balloon a bit into the atrium

    Cardiomyopathy: Gross view from the left atrium, in which the mitral valve anterior leaflet appears to balloon a bit into the atrium

  • Cardiomyopathy: Gross view of mitral and tricuspid valves from the atria, showing normal anatomy.

    Cardiomyopathy: Gross view of mitral and tricuspid valves from the atria, showing normal anatomy.

  • Cardiomyopathy: Gross dilated left ventricle with marked endocardial thickening "adult fibroelastosis"

    Cardiomyopathy: Gross dilated left ventricle with marked endocardial thickening "adult fibroelastosis"

  • Dilated Cardiomyopathy: Gross dilated left ventricle

    Dilated Cardiomyopathy: Gross dilated left ventricle

  • Dilated Cardiomyopathy: Gross dilated left ventricle with marked endocardial sclerosis

    Dilated Cardiomyopathy: Gross dilated left ventricle with marked endocardial sclerosis

  • Cardiomyopathy: Gross intact globular shaped heart

    Cardiomyopathy: Gross intact globular shaped heart

  • Dilated Cardiomyopathy: Gross opened dilated left ventricle with endocardial thickening

    Dilated Cardiomyopathy: Gross opened dilated left ventricle with endocardial thickening

  • Cardiomyopathy: Gross globular heart (external view) in a 10-year old girl with sickle cell anemia

    Cardiomyopathy: Gross globular heart (external view) in a 10-year old girl with sickle cell anemia

  • Cardiomyopathy: Gross horizontal sections of ventricles dilation type 10 year old girl with sickle cell anemia

    Cardiomyopathy: Gross horizontal sections of ventricles dilation type 10 year old girl with sickle cell anemia

  • Cardiomyopathy: Intermediate between hypertrophic and dilated

    Cardiomyopathy: Intermediate between hypertrophic and dilated

  • Dilated Cardiomyopathy: Gross opened globular left ventricle

    Dilated Cardiomyopathy: Gross opened globular left ventricle

Microscopic Pathology

On microscopic pathological examination, the heart may show

  • Variations in myocyte size
  • Interstitial fibrosis
  • Myofiber disarray
  • Transmural scars may be present.
  • Further, microscopic examination can verify the underlying cause as inflammation, amyloid, iron, and granulomas.[86]

References

  1. ↑ Janssen PM (2010). "Myocardial contraction-relaxation coupling". Am J Physiol Heart Circ Physiol. 299 (6): H1741–9. doi:10.1152/ajpheart.00759.2010. PMC 3006276. PMID 20852049.
  2. ↑ Schultheiss HP, Fairweather D, Caforio ALP, Escher F, Hershberger RE, Lipshultz SE; et al. (2019). "Dilated cardiomyopathy". Nat Rev Dis Primers. 5 (1): 32. doi:10.1038/s41572-019-0084-1. PMID 31073128.
  3. ↑ Weintraub RG, Semsarian C, Macdonald P (2017). "Dilated cardiomyopathy". Lancet. 390 (10092): 400–414. doi:10.1016/S0140-6736(16)31713-5. PMID 28190577.
  4. ↑ 4.0 4.1 McNally EM, Golbus JR, Puckelwartz MJ (2013). "Genetic mutations and mechanisms in dilated cardiomyopathy". J Clin Invest. 123 (1): 19–26. doi:10.1172/JCI62862. PMC 3533274. PMID 23281406.
  5. ↑ Knöll R, Postel R, Wang J, Krätzner R, Hennecke G, Vacaru AM; et al. (2007). "Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells". Circulation. 116 (5): 515–25. doi:10.1161/CIRCULATIONAHA.107.689984. PMID 17646580.
  6. ↑ 6.0 6.1 {{cite journal| author=Tsubata S, Bowles KR, Vatta M, Zintz C, Titus J, Muhonen L et al.| title=Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. | journal=J Clin Invest | year= 2000 | volume= 106 | issue= 5 | pages= 655-62 | pmid=10974018 | doi=10.1172/JCI9224 | pmc=PMC381284 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10974018
  7. ↑ 7.0 7.1 Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C; et al. (2008). "Revised spectrum of mutations in sarcoglycanopathies". Eur J Hum Genet. 16 (7): 793–803. doi:10.1038/ejhg.2008.9. PMID 18285821.
  8. ↑ Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT (1998). "Actin mutations in dilated cardiomyopathy, a heritable form of heart failure". Science. 280 (5364): 750–2. PMID 9563954.
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  61. ↑ Itoh-Satoh M, Hayashi T, Nishi H, Koga Y, Arimura T, Koyanagi T; et al. (2002). "Titin mutations as the molecular basis for dilated cardiomyopathy". Biochem Biophys Res Commun. 291 (2): 385–93. doi:10.1006/bbrc.2002.6448. PMID 11846417.
  62. ↑ Gerull B, Gramlich M, Atherton J, McNabb M, Trombitás K, Sasse-Klaassen S; et al. (2002). "Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy". Nat Genet. 30 (2): 201–4. doi:10.1038/ng815. PMID 11788824.
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