Article
Natural History, Phenotype Spectrum, and Clinical Outcomes of Desmin (DES)-Associated Cardiomyopathy.
Circulation. Genomic and precision medicine - 1 Apr 2025
Asatryan Babken, Rieder Marina, Murray Brittney, Muller Steven A, Tichnell Crystal, Gasperetti Alessio, Carrick Richard T, Joseph Emily, Leung Doris G, Te Riele Anneline S J M, Zimmerman Stefan L, Calkins Hugh, James Cynthia A, Barth Andreas S
Abstract excerpt
BACKGROUND: Pathogenic/likely pathogenic (LP) desmin (DES) variants cause heterogeneous cardiomyopathy and skeletal myopathy phenotypes. Limited data suggest a high incidence of major adverse cardiac events (MACEs), including cardiac conduction disease, sustained ventricular arrhythmias (VA), and heart failure (HF) events (HF hospitalization, left ventricular assist device/cardiac transplant, HF-related death) in...
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