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A MYH7 variant in a five-generation-family with hypertrophic cardiomyopathy

8 Feb 2024

Abstract excerpt

Background: Hypertrophic cardiomyopathy (HCM) is a genetic condition with a prevalence of 1:500–1:3 000. Variants in genes encoding sarcomeric proteins are mainly responsible for the disease. MYH7 gene encoding a myosin heavy chain beta, together with MYPBC3 gene are the two most commonly affected genes. The clinical presentation of this disease varies widely between individuals. This study aims to report a...

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PMID: 38389574
DOI: 10.3389/fgene.2024.1306333

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