• Caroline Rooryck, Florence Kyndt, Dominique Bozon, Nathalie Roux-Buisson, Frederic Sacher, Vincent Probst, and Jean-Benoit Thambo.
• Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), Bordeaux, France.
• J. Cardiovasc. Electrophysiol. 2015 Oct 1; 26 (10): 1146-50.

AbstractWe 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 severe arrhythmias without evidence of CPVT diagnosis at first cardiac evaluation. However, significant arrhythmias occurred after catecholaminergic stimulation. 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. © 2015 Wiley Periodicals, Inc.

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