A family with recurrent sudden death and no clinical clue

Michael Arad*, Michael Glikson, Dalia El-Ani, Lorenzo Monserrat-Inglesias

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)387-393
Number of pages7
JournalAnnals of Noninvasive Electrocardiology
Volume17
Issue number4
DOIs
StatePublished - Oct 2012

Keywords

  • Electrophysiology - ventricular tachycardia
  • Molecular biology/genetics
  • Sudden death

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