Catecholaminergic polymorphic ventricular tachycardia in a child: a case report.
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare arrythmogenic disease characterized by exercise--or stress--induced ventricular tachyarrythmias, syncope, or sudden death, usually in the pediatric age group. Familial occurrence has been noted in about 30% of cases. Inheritance may be autosomal dominant or recessive, usually with high penetrance. The causative genes have been mapped to chromosome 1. Mutations of the cardiac ryanodine receptor gene (RyR2) have been identified in autosomal dominant pedigrees, while calsequestrin gene (CASQ2) mutations are seen in recessive cases.


CONCLUSIONS
Due to its potential lethal outcome, exclusion or confirmation of catecholaminergic polymorphic ventricular tachycardia in children with physical and emotional syncope is mandatory. We report a case of catecholaminergic polymorphic ventricular tachycardia in a three-year-old child only diagnosed by genetic mapping.
Department of Pediatric Cardiology, University Hospital Gent, Belgium.
Lara
L
Garabedian
Ann
A
Verryckt
Joseph
J
Panzer
Daniel
D
De Wolf
D000889:Anti-Arrhythmia Agents / Q000627:therapeutic use; D001262:Atenolol / Q000627:therapeutic use; D002395:Catecholamines; D002675:Child, Preschool; D003937:Diagnosis, Differential; D015444:Exercise / Q000502:physiology; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics; D013575:Syncope / Q000209:etiology*; D017180:Tachycardia, Ventricular / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*
D000889:Anti-Arrhythmia Agents; D002395:Catecholamines; D019837:Ryanodine Receptor Calcium Release Channel; D001262:Atenolol