Disclosure: The authors disclose that they have no conflict of interest.
The Phenotype of a CASQ2 Mutation in a Saudi Family with Catecholaminergic Polymorphic Ventricular Tachycardia
Article first published online: 31 MAY 2012
©2012, The Authors. Journal compilation ©2012 Wiley Periodicals, Inc.
Pacing and Clinical Electrophysiology
Volume 36, Issue 5, pages e140–e142, May 2013
How to Cite
AL-HASSNAN, Z. N., TULBAH, S., AL-MANEA, W. and AL-FAYYADH, M. (2013), The Phenotype of a CASQ2 Mutation in a Saudi Family with Catecholaminergic Polymorphic Ventricular Tachycardia. Pacing and Clinical Electrophysiology, 36: e140–e142. doi: 10.1111/j.1540-8159.2012.03434.x
- Issue published online: 24 APR 2013
- Article first published online: 31 MAY 2012
- Manuscript Accepted: 9 JAN 2012
- Manuscript Revised: 12 DEC 2011
- Manuscript Received: 28 JUN 2011
- Catecholaminergic Polymorphic Ventricular Tachycardia;
- sudden death
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. (PACE 2013; 36:e140–e142)