Article
New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene.
Journal of cardiovascular electrophysiology - 1 Oct 2015
Rooryck Caroline, Kyndt Florence, Bozon Dominique, Roux-Buisson Nathalie, Sacher Frederic, Probst Vincent, Thambo Jean-Benoit
Abstract excerpt
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.Gln205* and c.22 + 29 A>G) were identified in the Triadin gene in 2 sibs who experienced early...
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