These studies were supported by the Israel Science Foundation (ISF Grants 876/2005 and 763/10) and the Bircher–Baner award from 2007 by Tel Aviv University, Genetic analysis in families with sudden cardiac death.
HEREDITARY ARRHYTHMIA CORNER: LEARNING FROM CHALLENGING PATIENTS
A Family with Recurrent Sudden Death and No Clinical Clue
Article first published online: 25 OCT 2012
©2012, Wiley Periodicals, Inc.
Annals of Noninvasive Electrocardiology
Volume 17, Issue 4, pages 387–393, October 2012
How to Cite
Arad, M., Glikson, M., El-Ani, D. and Monserrat-Inglesias, L. (2012), A Family with Recurrent Sudden Death and No Clinical Clue. Annals of Noninvasive Electrocardiology, 17: 387–393. doi: 10.1111/anec.12024
- Issue published online: 25 OCT 2012
- Article first published online: 25 OCT 2012
- Molecular biology/genetics;
- Electrophysiology - ventricular tachycardia;
- Sudden death
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.