期刊
ANNALS OF NONINVASIVE ELECTROCARDIOLOGY
卷 25, 期 4, 页码 -出版社
WILEY
DOI: 10.1111/anec.12707
关键词
basic; clinical; electrophysiology - cardiac arrest; sudden death; molecular biology; genetics
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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