Petrungaro Mattia, Scarà Antonio, Borrelli Alessio, Sciarra Luigi
Unit of Electrophysiology, Belcolle Hospital, 01100 Viterbo, Italy.
Department of Clinical and Molecular Medicine, Sapienza University of Rome, 00100 Rome, Italy.
J Cardiovasc Dev Dis. 2023 Feb 23;10(3):97. doi: 10.3390/jcdd10030097.
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a rare electrical genetic disease characterized by ventricular polymorphic tachycardia and/or bidirectional ventricular tachycardia induced by the release of catecholamines caused by intense physical or emotional stress in structurally normal hearts. Mostly, it is caused by mutations in genes that are involved in calcium homeostasis, in particular in the gene encoding for cardiac ryanodine receptor (RyR2). Our observation is the first description of familial CPVT caused by mutation of the RyR2 gene, linked to the complete AV block.
儿茶酚胺能性多形性室性心动过速（CPVT）是一种罕见的遗传性电疾病，其特征为在结构正常的心脏中，由强烈的身体或情绪应激引起的儿茶酚胺释放所诱发的室性多形性心动过速和/或双向性室性心动过速。大多数情况下，它是由参与钙稳态的基因突变引起的，特别是编码心脏雷诺丁受体（RyR2）的基因。我们的观察是首次描述由RyR2基因突变引起的、与完全性房室传导阻滞相关的家族性CPVT。
