P218: Inflammatory and arrhythmogenic cardiac phenotype associated with the DES c.832C>T (p.R278W) variant

Genetics in Medicine Open 2026 Open access

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Authors: Sophie Melly, Natalie C. Lippa, Andreas Brodehl, Alessia Paldino, Mathew S. Maurer, F. Z. Ab. Latif, Barry M. Fine
DOI: 10.1016/j.gimo.2026.103712
Cited by: 0

Abstract

Pathogenic variants in DES, encoding the intermediate filament protein desmin, are linked to a spectrum of cardiomyopathies, including dilated (DCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC). The DES c.832C>T (p.R278W) variant has been reported in DCM and hypertrophic cardiomyopathy (HCM) cohorts, though its ACMG/AMP pathogenicity classification remains disputed among commercial genetic laboratories (ClinVar Variation ID: 201703). We describe five individuals carrying this variant, their associated cardiac phenotypes, and complementary cellular studies assessing the biological effect of this variant on DES structure.

Fields of Study & Subjects

Cardiomyopathy and Myosin Studies Cardiovascular Effects of Exercise Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103712–103712
Publication date
1 January 2026
Language
EN