A novel variant in RyR2 causes familiar catecholaminergic polymorphic ventricular tachycardia

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• 作者：Cristina Bosch^a ; ¹ ; Oscar Campuzano^a ; ^b ; ¹ ; Georgia Sarquella-Brugada^c ; Sergi Cesar^c ; Alexandra Perez-Serra^a ; Monica Coll^a ; Irene Mademont^a ; Jesus Mates^a ; Bernat del Olmo^a ; Anna Iglesias^a ; Josep Brugada^c ; Volker Petersen^d ; Ramon Brugada^a ; ^b ; ^e ; ^{ramon@brugada.org}
• 关键词：Sudden cardiac death ; Catecholaminergic polymorphic ventricular tachycardia ; Genetics ; RyR2
• 刊名：Forensic Science International
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：270
• 期：Complete
• 页码：173-177
• 全文大小：928 K
• 卷排序：270

文摘

Catecholaminergic polymorphic ventricular tachycardia is a cause of sudden death. Molecular autopsy should be performed in sudden death cases showing normal autopsy. Next Generation Sequencing technology allows a comprehensive genetic analysis. Familial assessment is crucial to identify relatives at risk of sudden death.