Reevaluating Genetic Associations in Hypertrophic Cardiomyopathy

An expert panel reclassifies the strength of association for several genotypes and identifies new candidate genes.

Hypertrophic cardiomyopathy (HCM) is hereditary but genetically heterogeneous. Current guidelines strongly recommend genetic testing, primarily to inform decisions around surveillance and screening for at-risk family members. This paper reports the systematic reappraisal of the strength of association for the several reported genetic abnormalities potentially causing HCM as well as for recently identified candidate variants.

The assessment was performed by an expert panel of the Clinical Genome Resource and funded in part by the National Institutes of Health. It included genes that were classified as having a disputed association with HCM >3 years ago or as being moderately associated with HCM 2 years ago or strongly associated 3 years ago. …

Reviewing Author

Frederick A. Masoudi, MD, MSPH, MACC, FAHA

Disclosures

Consultant/Advisory BoardBristol Myers Squibb; CPC Clinical Research

Grant/Research SupportNational Heart, Lung, and Blood Institute

Editorial BoardsUpToDate; American College of Cardiology Self-Assessment Program (SAP)

Leadership Positions in Professional SocietiesAmerican College of Cardiology (Chair, Innovations Committee)