medRxiv (Medicine)
2026-06-24 00:00
DOI:
HASH:26107a50ef61ff2a104f3c3b7e474800
Utility of genetic screening for the prediction of severe arrhythmic outcomes in mitral valve prolapse
Authors:
Abstract
Background: Cardiomyopathy and channelopathy (CC) gene variants have been linked to sudden cardiac arrest (SCA) or death (SCD) in small, selected pedigree or post-mortem studies of arrhythmic mitral valve prolapse (MVP). However, the utility of clinical whole exome sequencing (WES) panels as a risk stratification tool in unselected MVP samples is unknown. Objectives: The goal of the study was to test the utility of clinical WES panels with CC variant screening for arrhythmic risk stratification in MVP. Methods: We performed research based WES in 203 consecutive MVPs without other arrhythmic substrate. Variants were filtered for rare (