Desminopathy: A Rare Cause of Cardiac Arrhythmia

Résumé fourni par la source

BACKGROUND: Desminopathy is a disorder of the desmin intermediate filament network, caused by a defect in the desmin gene (DES), which can lead to cardiomyopathy and skeletal myopathy. However, cardiac arrhythmia is a rare presentation of desminopathy. CASE SUMMARY: A previously well 29-year-old woman presented with ventricular fibrillation and complete heart block, with subsequently slow decline in skeletal muscle function. Following extensive work-up, she was found to have a novel mutation of the desmin gene (DES c.640-1G>C). DISCUSSION: We have identified a new DES variant possibly causing ventricular fibrillation, complete heart block, and skeletal myopathy. There is currently no cure, and management focusses on optimizing medical management and quality of life. TAKE-HOME MESSAGES: It is important to determine the cause for unusual arrhythmic presentations, and we hope to increase awareness of genetic causes for cardiac arrhythmias. Multidisciplinary teamwork is important in managing these cases and optimizing patient care.

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