Desmin-related myopathy manifested by various types of arrhythmias: a case report and literature review

• Published in: Journal of international medical research Vol. 52; no. 11; p. 3000605241291741
• Main Authors: Geng, Lu, Wang, Mengxiao, Wang, Keke, Xu, Liang, Li, Jiaqi, Liu, Fan, Lu, Jingchao
• Format: Journal Article
• Language: English
• Published: Sage UK: London, England SAGE Publications 01.11.2024; SAGE Publishing
• Subjects: Case Report and Case Series
• ISSN: 0300-0605; 1473-2300; 1473-2300
• DOI: 10.1177/03000605241291741

Desmin is a type III intermediate filament protein specifically expressed in muscle cells, which is encoded by the DES gene. Defects in the desmin protein and cytoskeletal instability may interfere with cardiac muscle conduction signals, a fundamental mechanism for arrhythmias in patients with desmin-related myopathy. This current case report presents a female patient in her early 20s who presented with early-onset complete atrioventricular block and complete left bundle branch block over the previous decade. More recently, she had developed ventricular tachycardia, ventricular fibrillation, atrial fibrillation and other arrhythmias. Echocardiography revealed non-compaction of the ventricular myocardium and pulmonary hypertension. Whole-exome sequencing analysis identified a heterozygous missense mutation in the DES gene: c.1216C>T (p.Arg406Trp). She was eventually diagnosed with arrhythmias due to desmin-related myopathy. A literature review of international databases was undertaken to summarise the clinical characteristics of the cardiac involvement associated with this DES gene mutation.