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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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