Dilated cardiomyopathy pathophysiology: Difference between revisions
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====Genes Encoding Plasma Membrane Proteins==== | ====Genes Encoding Plasma Membrane Proteins==== | ||
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|Gene||Abbreviation||References|| | |||
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| 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> | |||
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| Sarcoglycan delta|| 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> | |||
====Genes Encoding Cytoskeletal Proteins==== | ====Genes Encoding Cytoskeletal Proteins==== | ||
Revision as of 18:07, 10 October 2013
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Dilated cardiomyopathy Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Dilated cardiomyopathy pathophysiology On the Web |
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American Roentgen Ray Society Images of Dilated cardiomyopathy pathophysiology |
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Risk calculators and risk factors for Dilated cardiomyopathy pathophysiology |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-in-Chief: Sachin Shah, M.D., Jennifer Hall
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.[1] Phenotypic characteristics typically include ventricular chamber enlargement and systolic dysfunction with normal wall thickness.[1] 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.[1] Dilated cardiomyopathy is the third most common cause of heart failure.[1]
Pathophysiology
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.[2] These mutations are listed below.
Genes Encoding Plasma Membrane Proteins
| Gene | Abbreviation | References | |
| Laminin alpha 4 | LAMA4 | [3] | |
| Sarcoglycan delta | SGCD | [4] [5]
Genes Encoding Cytoskeletal ProteinsGenes Encoding Calcium Handling ProteinsGenes Encoding Mitochondrial Proteins*Genes Encoding Nuclear Proteins The increase in whole exome and whole genome sequencing has significantly increased the number of rare variants that are associated with dilated cardiomyopathy [2]. 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. [6] Genetic TestingAssociated ConditionsA 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 PathologyImages shown below are Courtesy of Professor Peter Anderson DVM PhD and published with permission. © PEIR, University of Alabama at Birmingham, Department of Pathology
References
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