The phenotype of a CASQ2 mutation in a Saudi family with catecholaminergic polymorphic ventricular tachycardia.
Catecholaminergic polymorphic ventricular tachycardia (CPVT) manifests with episodic syncope or sudden death in young patients following physical activity or emotional stress. The autosomal recessive form of CPVT is caused by mutations in the CASQ2 gene. In a consanguineous family, a novel homozygous CASQ2 mutation (p.L77P) was identified in a child with CPVT who required implantation of a cardioverter defibrillator due to episodes of syncope while on medical therapy. Genetic testing found the younger sibling, who had normal initial clinical screening, to be affected. Our cases underscore the importance of family screening through genetic testing to preemptively apply the appropriate medical intervention in CPVT.
Department of Medical Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia. zhassnan@kfshrc.edu.sa
Zuhair N
ZN
Al-Hassnan
Sahar
S
Tulbah
Waleed
W
Al-Manea
Majid
M
Al-Fayyadh
D000293:Adolescent; D002155:Calsequestrin / Q000235:genetics*; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012529:Saudi Arabia; D017180:Tachycardia, Ventricular / Q000175:diagnosis* / Q000235:genetics*; D000098850:Polymorphic Catecholaminergic Ventricular Tachycardia
C443109:CASQ2 protein, human; D002155:Calsequestrin