" /> Familial Hypertrophic Cardiomyopathy Type 1 - CISMeF





Preferred Label : Familial Hypertrophic Cardiomyopathy Type 1;

NCIt synonyms : CMH1; Idiopathic Hypertrophic Subaortic Stenosis; IHSS; Hereditary Ventricular Hypertrophy; Asymmetric Septal Hypertrophy;

NCIt 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.;

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30/07/2025


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