Hypertrophic cardiomyopathy causes

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Hypertrophic Cardiomyopathy Microchapters


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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ogheneochuko Ajari, MB.BS, MS [2] Soroush Seifirad, M.D.[3]


Hypertrophic cardiomyopathy is a condition that is most often passed down through families (inherited). It is thought to result from gene mutations that control heart muscle growth. Genes involved in the pathogenesis of hypertrophic cardiomyopathy include MYH7, TNNT2, TPM1. Nevertheless, a number of chronic medical conditions might be contributed to hypertrophic cardiomyopathy development, among them are thyroid disease, diabetes, and obesity, and hypertension.


Life Threatening Causes

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

Common Causes

Causes by Organ System

Cardiovascular Atrial myxoma, cardiofaciocutaneous syndrome, congenital generalized lipodystrophy type 2, Costello syndrome, hypertension, hypertrichotic osteochondrodysplasia, hypertrophic obstructive cardiomyopathy, Noonan syndrome, subendocardial ischemia, very long-chain acyl-CoA dehydrogenase deficiency, Yunis-Varon syndrome
Chemical / poisoning No underlying causes
Dermatologic Cardiofaciocutaneous syndrome, congenital generalized lipodystrophy type 2, Yunis-Varon syndrome
Drug Side Effect Prednisolone
Ear Nose Throat No underlying causes
Endocrine Diabetes mellitus, glycogenosis type 2, thyroid disease
Environmental No underlying causes
Gastroenterologic Glycogenosis type 2, very long-chain acyl-CoA dehydrogenase deficiency
Genetic Cardiofaciocutaneous syndrome, congenital generalized lipodystrophy type 2, Costello syndrome, cytochrome c oxidase deficiency, Fabry's disease, familial, Friedreich's ataxia, gene mutation, glycogenosis type 2, long-chain acyl-CoA dehydrogenase deficiency, malonyl-CoA decarboxylase deficiency, MELAS, multiple lentigines syndrome, myotonic dystrophy, Noonan syndrome, sarcomeric protein mutations
Hematologic Hereditary spherocytosis
Iatrogenic No underlying causes
Infectious Disease No underlying causes
Musculoskeletal / Ortho Hypertrichotic osteochondrodysplasia, myotonic dystrophy, Yunis-Varon syndrome
Neurologic Friedreich's ataxia, MELAS, myotonic dystrophy
Nutritional / Metabolic Cytochrome c oxidase deficiency, dihydrolipoamide dehydrogenase deficiency, Fabry's disease, long-chain acyl-CoA dehydrogenase deficiency, malonyl-CoA decarboxylase deficiency, MELAS, muscle glycogen synthase deficiency, very long-chain acyl-CoA dehydrogenase deficiency
Obstetric/Gynecologic No underlying causes
Oncologic No underlying causes
Opthalmologic No underlying causes
Overdose / Toxicity No underlying causes
Psychiatric Costello syndrome, hypertrichotic osteochondrodysplasia
Pulmonary No underlying causes
Renal / Electrolyte No underlying causes
Rheum / Immune / Allergy No underlying causes
Sexual No underlying causes
Trauma No underlying causes
Urologic No underlying causes
Dental No underlying causes
Miscellaneous Aging, idiopathic

Causes in Alphabetical Order


Hypertrophic cardiomyopathy is transmitted in an autosomal dominant pattern.

Genes involved in the pathogenesis of hypertrophic cardiomyopathy include:

The development of Hypertrophic cardiomyopathy is the result of multiple genetic mutations such as:

HCM is the most common genetically transmitted cardiovascular disease. Hypertrophic cardiomyopathy is inherited as an autosomal dominant trait and is attributed to mutations in one of a number of genes that encode for one of the sarcomere proteins.  Penetrance of HCM is incomplete, variable and time or age-related. The disease may be sporadic but affected family members are discovered in 13% of cases. More than 200 mutations involving at least 10 chromosomes encoding structural proteins of the myocyte have been discovered. These mutations have varying degrees of penetrance and even the same mutation may have variable expression, implying the superimposed effects of other genes or environmental influences. Children of a patient with HCM have a 50% chance of inheriting the trait.


  1. Abdou M, Hayek S, Williams BR (2013). "Atrial myxoma in a patient with hypertrophic cardiomyopathy". Tex Heart Inst J. 40 (4): 462–4. PMC 3783132. PMID 24082380.
  2. Fukao T, Sakai S, Shimozawa N, Kuwahara T, Kano M, Goto E; et al. (1996). "Life-threatening cardiac involvement throughout life in a case of Costello syndrome". Clin Genet. 50 (4): 244–7. PMID 9001809.
  3. Adam T, Alexandrescu L, Voinea F, Toringhibel M, Hâncu A (2006). "Fabry's disease". Rom J Intern Med. 44 (4): 455–64. PMID 18386622.
  4. Jauslin ML, Wirth T, Meier T, Schoumacher F (2002). "A cellular model for Friedreich Ataxia reveals small-molecule glutathione peroxidase mimetics as novel treatment strategy". Hum Mol Genet. 11 (24): 3055–63. PMID 12417527.
  5. Halawa A, Iskandar SB, Brahmbhatt V, Fahrig SA (2007). "Atrial flutter and myotonic dystrophy in a male adolescent treated with radiofrequency catheter ablation". Rev Cardiovasc Med. 8 (2): 118–22. PMID 17603429.
  6. Prendiville TW, Gauvreau K, Tworog-Dube E, Patkin L, Kucherlapati RS, Roberts AE; et al. (2014). "Cardiovascular disease in Noonan syndrome". Arch Dis Child. 99 (7): 629–34. doi:10.1136/archdischild-2013-305047. PMID 24534818.
  7. Tucci S, Flögel U, Hermann S, Sturm M, Schäfers M, Spiekerkoetter U (2014). "Development and pathomechanisms of cardiomyopathy in very long-chain acyl-CoA dehydrogenase deficient (VLCAD(-/-)) mice". Biochim Biophys Acta. 1842 (5): 677–85. doi:10.1016/j.bbadis.2014.02.001. PMID 24530811.

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