期刊
DIAGNOSTICS
卷 10, 期 7, 页码 -出版社
MDPI
DOI: 10.3390/diagnostics10070435
关键词
sudden cardiac arrest; CPVT; catecholaminergic polymorphic ventricular tachycardia; genetic testing
资金
- National Institute of Cardiology [2.19/II/14]
- National Centre for Research and Development [ERA-CVD DETECTIN-HF/2/2017]
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of causes of sudden cardiac death in the young, especially in athletes. Diagnosis of CPVT may be difficult since all cardiological examinations performed at rest are usually normal, and exercise stress test-induced ventricular tachycardia is not commonly present. The identification of a pathogenic mutation in RYR2 or CASQ2 is diagnostic in CPVT. We report on a 20-year-old athlete who survived two sudden cardiac arrests during swimming. Moreover, he suffered repeated syncopal spells on exercise. The diagnosis was made only following genetic testing using a multi-gene panel, and the p.Arg420Gln RYR2 variant was identified. We present diagnostic and therapeutic issues in this young athlete with CPVT.
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