Key result
Genetic testing identifying a mutation in the cardiac ryanodine receptor established the diagnosis of catecholaminergic polymorphic ventricular tachycardia in a family with recurrent sudden death.
Case Report
Genetic testing can be crucial for diagnosing CPVT in families with unexplained recurrent sudden cardiac death when standard clinical and autopsy data are inconclusive.
May support genetic testing for CPVT in unexplained familial sudden death; leaves open prospective validation before broader adoption.
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.
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Arad et al. (2012) conducted a case report in Sudden cardiac death and recurrent ventricular fibrillation. Genetic testing for cardiac ryanodine receptor mutation was evaluated on Diagnosis of catecholaminergic polymorphic ventricular tachycardia (CPVT). Genetic testing identifying a mutation in the cardiac ryanodine receptor established the diagnosis of catecholaminergic polymorphic ventricular tachycardia in a family with recurrent sudden death.
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