Caracterização das Variantes no Gene MYBPC3 em Pacientes com Cardiomiopatias Hereditárias

Abstract

Hereditary cardiomyopathies represent a significant cause of sudden death in young individuals and constitute a public health concern due to their association with ventricular arrhythmias, progressive heart failure, and premature adverse outcomes. The MYBPC3 gene is the major contributor to hypertrophic cardiomyopathy and is also implicated in phenotypes of dilated cardiomyopathy and arrhythmic disorders, reflecting the broad spectrum of variants that impair the stability, structure, and function of the cMyBPC protein. Functional reduction of cMyBPC, arising from mechanisms of haploinsufficiency,typically mediated by truncating variants subject to transcript decay, but also by missense variants that disrupt folding, phosphorylation, or sarcomeric interactions,leads to myofibrillar disarray, cardiac remodeling, and fibrosis. In this study, we describe and characterize MYBPC3 variants identified in patients with cardiomyopathies classified as idiopathic who are followed at the Cardiology Service of Hospital Universitário Professor Edgard Santos and who underwent etiological investigation through next-generation sequencing.