Yield of family screening for dilated cardiomyopathy: 10-year experience at a multidisciplinary cardiogenetic outpatient clinic.

ABSTRACT:

Introduction

Current family screening approaches in dilated cardiomyopathy (DCM) depend on the presence or absence of a familial genetic variant, in which variant pathogenicity (i.e. benign or pathogenic) classification drives screening recommendations. However, this approach has never been systematically evaluated.

Methods

To describe the yield of DCM family screening stratified by variant classification in the Netherlands, we included 358 relatives (mean age ± standard deviation: 44.4 ± 15.9 years at baseline; 52% female; 41% (likely) pathogenic (LP/P) variant carriers from 210 families). Demographics, symptoms and genetic/cardiac test results were obtained. Endpoints were the development of DCM (left ventricular ejection fraction < 50% of non-ischaemic aetiology) or occur

SUBMITTER: Thierry IP 

PROVIDER: S-EPMC11757811 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature