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Article

Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies.

Nature reviews. Cardiology - 1 Mar 2022

Walsh Roddy, Offerhaus Joost A, Tadros Rafik, Bezzina Connie R

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) was traditionally described as an autosomal dominant Mendelian disease but is now increasingly recognized as having a complex genetic aetiology. Although eight core genes encoding sarcomeric proteins account for >90% of the pathogenic variants in patients with HCM, variants in several additional genes (ACTN2, ALPK3, CSRP3, FHOD3, FLNC, JPH2, KLHL24, PLN and TRIM63), encoding...

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Identifiers

PMID: 34526680
DOI: 10.1038/s41569-021-00608-2

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