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

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.