A Family with Recurrent Sudden Death and No Clinical Clue

被引：6

作者：

Arad, Michael ^{[1
,2
]}

Glikson, Michael ^{[2
]}

El-Ani, Dalia ^{[2
]}

Monserrat-Inglesias, Lorenzo ^{[3
,4
]}

机构：

[1] Chaim Sheba Med Ctr, Leviev Heart Inst, Leviev Heart Ctr, IL-52621 Tel Hashomer, Israel

[2] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel

[3] A Coruna Univ Hosp, La Coruna, Spain

[4] Galician Hlth Serv SERGAS, La Coruna, Spain

来源：

ANNALS OF NONINVASIVE ELECTROCARDIOLOGY | 2012年 / 17卷 / 04期

基金：

以色列科学基金会;

关键词：

Molecular biology; genetics; Electrophysiology - ventricular tachycardia; Sudden death; POLYMORPHIC VENTRICULAR-TACHYCARDIA; CARDIAC RYANODINE RECEPTOR; UNEXPLAINED DEATH; MUTATIONAL ANALYSIS; RYR2; MUTATIONS; FOLLOW-UP; ARRHYTHMIAS; AUTOPSY; GENE;

D O I：

10.1111/anec.12024

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Background: Sudden cardiac death of a child is a devastating event for the family and an enormous challenge for the attending physician. Methods and Results: We report a family with repeat events of sudden cardiac death and recurrent ventricular fibrillation in a teenage girl, where autopsy data and clinical investigations were inconclusive. The diagnosis of catecholaminergic polymorphic ventricular tachycardia (CPVT) was established only following finding a gene mutation in the cardiac ryanodine receptor. Conclusions: Interpretation of autopsy data, provocation testing and genetic testing in victims of sudden death and family members are discussed to correctly identify the cause and properly manage asymptomatic carriers in such families.

引用

页码：387 / 393

页数：7

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