Desmin-related Myopathy Manifested by Various Types of Arrhythmias: a Case Report and Literature Review

Overview

Journal J Int Med Res

Publisher Sage Publications

Specialty General Medicine

Date 2024 Nov 6

PMID 39501717

Authors

Lu Geng

Mengxiao Wang

Keke Wang

Liang Xu

Jiaqi Li

Fan Liu

Jingchao Lu

Affiliations

Soon will be listed here.

Abstract

Desmin is a type III intermediate filament protein specifically expressed in muscle cells, which is encoded by the 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 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 gene mutation.

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