title: A family with recurrent sudden death and no clinical clue.
abstract: BACKGROUND
  Sudden cardiac death of a child is a devastating event for the family and an enormous challenge for the attending physician.
  
  
  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.
authors.affiliation: 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
authors.forename: Michael
authors.initials: M
authors.lastname: Arad
authors.forename: Michael
authors.initials: M
authors.lastname: Glikson
authors.forename: Dalia
authors.initials: D
authors.lastname: El-Ani
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Monserrat-Inglesias
mesh_terms: D000293:Adolescent; D000328:Adult; D001344:Autopsy; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics; D002648:Child; D016757:Death, Sudden, Cardiac; D017147:Defibrillators, Implantable; D003937:Diagnosis, Differential; D004554:Electric Countershock; D004562:Electrocardiography / Q000379:methods*; D005192:Family Health; D005260:Female; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008297:Male; D009154:Mutation; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D013575:Syncope / Q000235:genetics*; D017180:Tachycardia, Ventricular / Q000235:genetics* / Q000628:therapy; D014693:Ventricular Fibrillation / Q000235:genetics*; D000098850:Polymorphic Catecholaminergic Ventricular Tachycardia
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel