Abstract

HERRERA-RODRIGUEZ, Diana L. et al. Genes frequently associated with sudden death in primary hypertrophic cardiomyopathy. Arch. Cardiol. Méx. [online]. 2020, vol.90, n.1, pp.59-68.  Epub Oct 23, 2020. ISSN 1665-1731.  https://doi.org/10.24875/acme.m20000085.

Hypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy without apparent cardiac justification. Sudden cardiac death may be the first manifestation of the disease. It occurs mainly in adulthood and can be seen in childhood and adolescence where genetic origin predominates. Primary HCM (“familial”) is inherited in an autosomal dominant pattern in the 25 subtypes informed in Online Mendelian Inheritance in Man. The proteins encoded by the mutated genes are part of the sarcomere in the cardiac cells, being the thick filament the most frequently affected, with the worst prognosis. In the present article, we describe the Mendelian inheritance of the disease and the two most associated genes with sudden death: MYBPC3 and MYH7.

Keywords : Hypertrophic cardiomyopathy; Genes; Gene variants; MYBPC3; MYH7; Sudden cardiac death.