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Revision as of 14:05, 5 September 2013

Cardiomyopathy Microchapters

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Overview

Historical Perspective

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Pathophysiology

Causes

Differentiating Cardiomyopathy from other Diseases

Epidemiology and Demographics

Risk Factors

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2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]

Overview

Cardiomyopathy can result from various causes which include: infectious (e.g. adenovirus, african trypanosomiasis, arbovirus, ascariasis), metabolic (e.g. 3-hydroxyacyl-CoA dehydrogenase deficiency, beriberi, Borud syndrome), genetic (e.g. Emery-Dreifuss muscular dystrophy, familial cardiomyopathy, Friedreich's ataxia) and many other disease processes.

Causes

Life Threatening Causes

Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated.

Common Causes

Causes by Organ System

Cardiovascular Arrhythmogenic right ventricular dysplasia, arterial calcification of infancy, Brugada syndrome, cardiac transplant rejection, cardiomyopathy-renal anomalies,[1] chronic tachycardia, coronary artery disease, cytochrome C oxidase deficiency, endomyocardial fibrosis, eosinophilic endomyocardial disease, giant cell myocarditis, hypertension,Keshan disease, left ventricular noncompaction, Loeffler endocarditis, myocarditis, Naxos disease, obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay,[2] prolonged QT syndrome, X-linked dilated cardiomyopathy,[3] X-linked fatal infantile cardiomyopathy[4]
Chemical / poisoning Arsenic, cobalt, endothall, ethanol, lead, thallium, allylamine, carbon monoxide, toxic mushrooms
Dermatologic Familial cutaneous collagenoma,[5] lentiginosis, dermatomyositis, Carvajal-Huerta syndrome, Hand-Schuller-Christian syndrome, McLeod syndrome, multiple lentigines syndrome, Naxos disease, pityriasis lichenoides et varioliformis acuta, Refsum disease
Drug Side Effect 5-fluorouracil, aclarubicin, actinomycin D, alemtuzumab, amrubicin, bleomycin, certolizumab pegol, cisplatin, clozapine, cyclophosphamide, dasatinib, daunorubicin, disopyramide, doxorubicin, epirubicin, fenfluramine, hydralazine, idarubicin, imatinib, interferon-alpha, mitoxantrone, paclitaxel, paracetamol, pirarubicin, pixantrone, streptomycin, sunitinib, tacrolimus, trastuzumab, tricyclic anti-depressant abuse, valrubicin
Ear Nose Throat No underlying causes
Endocrine Acromegaly, amyloidosis, carcinoid syndrome, celiac disease, cushing syndrome, diabetes mellitus, gout, hemochromatosis, hyperparathyroidism, hyperthyroidism, hypothyroidism, obesity-colitis-hypothyroidism-cardiac hypertrophy developmental delay,[2] paraneoplastic syndromes, pheochromocytoma, pituitary tumor, WAGR syndrome, Whipple's disease
Environmental Heatstroke, hypothermia, lightning strike, radiation
Gastroenterologic Hemochromatosis, obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay complex, [2]Whipple's disease
Genetic Alpers' disease, Borud syndrome, Brugada syndrome, Carvajal-Huerta syndrome, congenital disorders of glycosylation, congenital generalized lipodystrophy, Costello syndrome, cytochrome C oxidase deficiency, desmin-related myofibrillar myopathy, Emery-Dreifuss muscular dystrophy, familial cardiomyopathy, Friedreich's ataxia, hereditary spherocytosis, Hurler syndrome, Hutchinson-Gilford progeria syndrome, hypertrichotic osteochondrodysplasia, Keshan disease, Laing distal myopathy, LAMA2-related muscular dystrophy, mitochondrial trifunctional protein deficiency, multiple lentigines syndrome, muscular dystrophy, Naxos disease, Noonan syndrome, porphyria, prolonged QT syndrome, pseudoxanthoma elasticum, Refsum disease, respiratory chain complex I deficiency, Salih myopathy, sarcoglycanopathy, syndromic microphthalmia type 7, WAGR syndrome, X-linked dilated cardiomyopathy, [3] X-linked fatal infantile cardiomyopathy, [4] Yunis-Varon syndrome
Hematologic Hereditary spherocytosis
Iatrogenic Cardiac irradiation
Infectious Disease Adenovirus, african trypanosomiasis, arbovirus, ascariasis, aspergillosis, beta-hemolytic streptococci, blastomycosis, brucella, Chagas disease, coccidioidomycosis, coxsackie A virus, coxsackie virus B1-B5, cryptococcosis, cysticercosis, cytomegalovirus, diptheria, echovirus, enterococci, Epstein-Barr virus (EBV), filariasis, flavivirus, histoplasmosis, HIV, influenza, leishmaniasis, leptospirosis, loeffler endocarditis, Lyme disease, malaria, measles, mumps, pertussis, poliomyelitis, psittacosis, Q fever, rabies, rheumatic fever, rocky mountain spotted fever, sarcosporidiosis, schistosomiasis, staphylococcus, syphilis, tetanus, toxoplasmosis, trichinosis, tuberculosis, typhoid fever, varicella-zoster virus
Musculoskeletal / Ortho Arthrogryposis due to muscular dystrophy, cytochrome c oxidase deficiency, dermatomyositis, Duchenne muscular dystrophy, Emery-Dreifuss muscular dystrophy, Hand-Schuller-Christian Syndrome, Kearns-Sayre syndrome, mitochondrial myopathy, muscular dystrophy, myotonic dystrophy
Neurologic Alpers' disease, d-2-hydroxyglutarate dehydrogenase deficiency, Friedreich's ataxia, Hand-Schuller-Christian Syndrome, Kearns-Sayre syndrome, MELAS syndrome, Whipple's disease
Nutritional / Metabolic 3-hydroxyacyl-CoA dehydrogenase deficiency, beriberi , Borud syndrome, carbohydrate deficient glycoprotein syndrome type 1a, carnitine deficiency, Coenzyme Q10 (CoQ10) deficiency, coenzyme Q cytochrome c reductase deficiency, congenital disorder of glycosylation, cytochrome C Oxidase deficiency, d-2-hydroxyglutarate dehydrogenase deficiency, Fabry disease, gangliosidosis, Gaucher's disease, glutaric acidemia type 2, gout, hemochromatosis, Hunter syndrome, Hurler syndrome, Isobutyryl-coenzyme A dehydrogenase deficiency, Keshan disease, kwashiorkor, long-chain Acyl CoA dehydrogenase deficiency, malonic aciduria, MELAS syndrome, mitochondrial trifunctional protein deficiency, mucopolysaccharidoses, Niemann-Pick disease, niacin deficiency, oxalosis, paraneoplastic syndromes, Pompe disease, porphyria, Refsum disease, respiratory chain complex I deficiency, s-adenosylhomocysteine hydrolase deficiency, scurvy, selenium deficiency, subacute necrotising encephalomyelopathy, triosephosphate isomerase deficiency, uremia, vitamin B deficiency, vitamin D overdose
Obstetric/Gynecologic Peripartum cardiomyopathy
Oncologic Angioma, myxomas, pituitary tumour, rhabdomyoma, sarcoma, leukemia, WAGR syndrome, carcinoid syndrome
Ophthalmologic Hand-Schuller-Christian syndrome, syndromic microphthalmia type 7, myotonic dystrophy, WAGR syndrome
Overdose / Toxicity Alcohol, cobalt poisoning, cocaine abuse, oxalosis, paracetamol, tricyclic antidepressant, vitamin D overdose
Psychiatric Takotsubo cardiomyopathy
Pulmonary No underlying causes
Renal / Electrolyte Cardiomyopathy-renal anomalies,[1] hypocalcemia, hypokalemia, hypomagnesemia, uremia, WAGR syndrome, MELAS syndrome
Rheum / Immune / Allergy Gout, Kawasaki disease, polyarteritis nodosa, rheumatoid arthritis, systemic sclerosis, scleroderma, systemic lupus erythematosus
Sexual No underlying causes
Trauma No underlying causes
Urologic No underlying causes
Dental No underlying causes
Miscellaneous Black widow spider bite, cardiac transplant rejection, idiopathic dilated cardiomyopathy, mitochondrial trifunctional protein deficiency, obesity, obstructive sleep apnea, stress-induced cardiomyopathy

Causes in Alphabetical Order

Cardiomyopathies and Genetics

Genetic causes of cardiomyopathies.[6]

Phenotype Inheritance Pattern Chromosomal Locus Gene Protein Skeletal Myopathy
Dilated cardiomyopathy X-linked Xp21 dystrophin Dystrophin Duchenne / Becker muscular dystrophy
X-linked Xq28 G4.5 Tafazzin Barth syndrome
Autosomal dominant 15q14 actin Actin Nemaline myopathy
2q35 desmin Desmin Desmin myopathy
5q33 δ-sarcoglycan δ-sarcoglycan Limb girdle muscular dystrophy 2F
1q32 Troponin T Troponin T
14q11 β-myosin heavy chain β-myosin heavy chain
15q2 α-tropomyosin α-tropomyosin Nemaline myopathy
Midna Mitochondrial respiratory chain Mitochondrial respiratory chain Mitochondrial myopathy
Dilated cardiomyopathy with conduction disease Autosomal dominant 1q21 lamin A/C Lamin A/C Emery-Dreifuss muscular dystrophy
Hypertrophic cardiomyopathy Autosomal dominant 14q11 β-myosin heavy chain β-myosin heavy chain
14q11 β-myosin heavy chain β-myosin heavy chain
1q32 Troponin T Troponin T
12q23 Troponin T Troponin T
15q2 α-tropomyosin α-tropomyosin Nemaline myopathy
11q11 myosin-binding protein C myosin-binding protein C
3p21 myosin essential light chain myosin essential light chain
3p21 myosin regulatory light chain myosin regulatory light chain
2p31 Titin Titin
Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome 7q3 AMPK AMPK
MIDINA Mitochondrial respiratory chain Mitochondrial respiratory chain Mitochondrial myopathy
Left ventricular noncompaction X-linked Xq28 G4.5 Tafazzin Barth syndrome
Autosomal dominant 18q12 α-dystrobrevin α-dystrobrevin Muscular dystrophy

References

  1. ↑ 1.0 1.1 1.2 Leask, KM.; Kerr, B.; Ladusans, E. (2007). "Cardiomyopathy with renal anomalies in two siblings: a new recessive syndrome?". Clin Dysmorphol. 16 (1): 51–3. doi:10.1097/MCD.0b013e328010caa9. PMID 17159516. Unknown parameter |month= ignored (help)
  2. ↑ 2.0 2.1 2.2 2.3 Tan, TY.; Amor, DJ. (2007). "Obesity, hypothyroidism, craniosynostosis, cardiac hypertrophy, colitis, and developmental delay: a novel syndrome". Am J Med Genet A. 143 (2): 114–8. doi:10.1002/ajmg.a.31548. PMID 17163533. Unknown parameter |month= ignored (help)
  3. ↑ 3.0 3.1 3.2 Towbin, JA.; Hejtmancik, JF.; Brink, P.; Gelb, B.; Zhu, XM.; Chamberlain, JS.; McCabe, ER.; Swift, M. (1993). "X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus". Circulation. 87 (6): 1854–65. PMID 8504498. Unknown parameter |month= ignored (help)
  4. ↑ 4.0 4.1 4.2 Gedeon, AK.; Wilson, MJ.; Colley, AC.; Sillence, DO.; Mulley, JC. (1995). "X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome". J Med Genet. 32 (5): 383–8. PMID 7616547. Unknown parameter |month= ignored (help)
  5. ↑ 5.0 5.1 Dawn, ME.; Deng, AC.; Petrali, J.; Wessely, C.; Jaffe, D.; Gaspari, AA. "Familial cutaneous collagenoma". Skinmed. 7 (1): 43–5. PMID 18174804.
  6. ↑ Towbin JA, Bowles NE (2002). "The failing heart". Nature. 415 (6868): 227–33. doi:10.1038/415227a. PMID 11805847. Unknown parameter |month= ignored (help)

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