Clinical and genetic investigation of catecholaminergic polymorphic ventricular tachycardia in a consanguineous Tunisian family

摘要

Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare disease presenting with syncopal events and sudden cardiac death at a young age in the absence of structural heart disease. Two major genes have been shown to be responsible for CPVT: RYR2 and CASQ2 genes involved in calcium homeostasis. Methods: We report here clinical and molecular investigation of a consanguineous Tunisian family including three affected members. Involvement of RYR2 and CASQ2 genes was investigated. Results: Mutation screening for RYR2 gene showed that no mutation were detected in the coding sequence. A novel variation c.572C/T was identified in CASQ2 gene leading to a p.Pro191Leu. Conclusion: To our knowledge, this is the first clinical and genetic investigation of CPVT in North Africa.