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.