Journal of cardiovascular electrophysiology
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J. Cardiovasc. Electrophysiol. · Oct 2015
Case ReportsNew Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene.
We describe a new family with cathecholaminergic polymorphic ventricular tachycardia (CPVT) linked to the Triadin gene. This is the second report of such a CPVT of autosomal recessive inheritance. Using an NGS panel including 42 genes involved in cardiac sudden death, 2 heterozygous pathogenic mutations (c.613C> T/p. ⋯ Each of the TRDN mutations was inherited from a healthy parent. In this family, genetic studies permit confirmation of the CPVT diagnosis in the 2 affected sibs and permit the early diagnosis of the third asymptomatic child. It also helped guide the therapeutic strategy in this family.