Spatial and Functional Distribution of <i>MYBPC3</i> Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.

ABSTRACT:

Background

Pathogenic variants in MYBPC3, encoding cardiac MyBP-C (myosin binding protein C), are the most common cause of familial hypertrophic cardiomyopathy. A large number of unique MYBPC3 variants and relatively small genotyped hypertrophic cardiomyopathy cohorts have precluded detailed genotype-phenotype correlations.

Methods

Patients with hypertrophic cardiomyopathy and MYBPC3 variants were identified from the Sarcomeric Human Cardiomyopathy Registry. Variant types and locations were analyzed, morphological severity was assessed, and time-event analysis was performed (composite clinical outcome of sudden death, class III/IV heart failure, left ventricular assist device/transplant, atrial fibrillation). For selected missense variants falling in enr

SUBMITTER: Helms AS 

PROVIDER: S-EPMC7676622 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature