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Intermediate Effect Variants in HCM: Integration into Clinical Practice and Family Screening

Roddy Walsh1, Pablo Garcia-Pavia2,3,4, Juan Pablo Ochoa3,4

  • 1Cardiovascular and Genomics Research Institute, City St. George's, University of London, London, UK (R.W.).

Circulation
|May 4, 2026
PubMed
Abstract

No abstract available in PubMed .

Keywords:
cardiomyopathy, hypertrophicgenetic testingrisk factors

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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