Complex ventricular arrhythmia may have different etiologies within a single family, highlighting the importance of performing genetic testing in the individual with the broadest spectrum of symptoms.
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Desmin variants may underlie familial ventricular arrhythmias without cardiomyopathy; hypothesis-generating for genetic evaluation in similar cases.
We present two symptomatic sisters who had a positive family history of sudden death. None of them had structural heart disease. In the 25-year-old proband, complex ventricular arrhythmia, cardiac conduction system disease, and skeletal muscle weakness were found. Genetic examination showed a pathogenic intronic variant in the desmin gene in the proband only. In the elder sister with palpitations, complex ventricular arrhythmia (>46 000 ectopic beats) was removed by radiofrequency ablation. This family case shows that complex ventricular arrhythmia may have different background within one family, genetic examinations should be performed in a person with broadest spectrum of symptoms.
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Stępień‐Wojno et al. (2019) studied this question.
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