A novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers.

ABSTRACT:

Background and aims

Pathogenic desmoplakin (DSP) gene variants are associated with the development of a distinct form of arrhythmogenic cardiomyopathy known as DSP cardiomyopathy. Patients harbouring these variants are at high risk for sustained ventricular arrhythmia (VA), but existing tools for individualized arrhythmic risk assessment have proven unreliable in this population.

Methods

Patients from the multi-national DSP-ERADOS (Desmoplakin SPecific Effort for a RAre Disease Outcome Study) Network patient registry who had pathogenic or likely pathogenic DSP variants and no sustained VA prior to enrolment were followed longitudinally for the development of first sustained VA event. Clinically guided, step-wise Cox regression analysis was used to develop a novel clinical to

SUBMITTER: Carrick RT 

PROVIDER: S-EPMC11335372 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature