Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers.

ABSTRACT:

Background

Predictive genetic screening of relatives of patients with hypertrophic cardiomyopathy (HCM) caused by sarcomere protein (SP) gene mutations is current standard of care, but there are few data on long-term outcomes in mutation carriers without HCM.

Objectives

The aim of this study was to determine the incidence of new HCM diagnosis in SP mutation carriers.

Methods

This was a retrospective analysis of adult and pediatric SP mutation carriers identified during family screening who did not fulfill diagnostic criteria for HCM at first evaluation.

Results

The authors evaluated 285 individuals from 156 families (median age 14.2 years [interquartile range: 6.8 to 31.6 years], 141 [49.5%] male individuals); 145 (50.9%) underwent cardiac magnetic resonance (C

SUBMITTER: Lorenzini M 

PROVIDER: S-EPMC7397507 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature