Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (<i>DES</i>)-Associated Cardiomyopathy.

ABSTRACT:

Background

Pathogenic/likely pathogenic (P/LP) desmin (DES) variants cause heterogeneous cardiomyopathy and/or skeletal myopathy phenotypes. Limited data suggest a high incidence of major adverse cardiac events (MACE), including cardiac conduction disease (CCD), sustained ventricular arrhythmias (VA), and heart failure (HF) events (HF hospitalization, LVAD/cardiac transplant, HF-related death), in patients with P/LP DES variants. However, pleiotropic presentation and small cohort sizes have limited clinical phenotype and outcome characterization.

Objectives

We aimed to describe the natural history, phenotype spectrum, familial penetrance and outcomes in patients with P/LP DES variants through a systematic review and individual patient data meta-analysis

SUBMITTER: Asatryan B 

PROVIDER: S-EPMC11383507 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature