C172092Level 7
Familial Hypertrophic Cardiomyopathy Type 1
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the CAV3 gene, MYH7 gene, or MYLK2 gene encoding caveolin-3, myosin heavy chain 7, and myosin light chain kinase 2, skeletal/cardiac muscle respectively.
**Synonyms:** - Asymmetric Septal Hypertrophy - CMH1 - Hereditary Ventricular Hypertrophy - IHSS - Idiopathic Hypertrophic Subaortic Stenosis
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