Hypertrophic cardiomyopathy: single gene disease or complex trait?

Abstract

Landmark genetic mapping studies beginning in the 1990s defined hypertrophic cardiomyopathy (HCM) as an autosomal dominant inherited disease caused by specific mutations in cardiac sarcomere genes. Certain mutations in large families were initially described as being more deleterious than others, giving hope that genetic testing would enable predictions of… (More)
DOI: 10.1093/eurheartj/ehv562

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