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Ann Noninvasive Electrocardiol. 2012 Oct;17(4):387-93. doi: 10.1111/anec.12024.

A family with recurrent sudden death and no clinical clue.

Author information

1
Leviev Heart Center, Sheba Medical Center, Tel Hashomer and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. michael.arad@sheba.health.gov.il

Abstract

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.

PMID:
23094885
DOI:
10.1111/anec.12024
[Indexed for MEDLINE]
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