Variants in MHY7 Gene Cause Arrhythmogenic Cardiomyopathy.

ABSTRACT:

Background

Arrhythmogenic Cardiomyopathy (ACM) is a disease of the cardiac muscle, characterized by frequent ventricular arrhythmias and functional/ structural abnormalities, mainly of the right ventricle. To date, 20 different genes have been associated with ACM and the majority of them encode for desmosomal proteins. In this study, we describe the characterization of two novel variants in MHY7 gene, segregating in two ACM families. MYH7 encodes for myosin heavy chain β (MHC-β) isoform, involved in cardiac muscle contractility.

Method and results

In family A, the autopsy revealed ACM with biventricular involvement in both the proband and his father. In family B, the proband had been diagnosed as affected by ACM and implanted with implantable cardioverter defibrillato

SUBMITTER: Ferradini V 

PROVIDER: S-EPMC8224781 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature