New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene.

Abstract

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 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.

• Authors: Caroline Rooryck, Florence Kyndt, Dominique Bozon, Nathalie Roux-Buisson, Frederic Sacher, Vincent Probst, Jean-Benoit Thambo
• Journal: Journal of cardiovascular electrophysiology (J Cardiovasc Electrophysiol) Vol. 26 Issue 10 Pg. 1146-50 (Oct 2015) ISSN: 1540-8167 [Electronic] United States
• PMID: 26200674 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2015 Wiley Periodicals, Inc.

Chemical References

• Carrier Proteins
• Genetic Markers
• Muscle Proteins
• TRDN protein, human

Topics

• Carrier Proteins (genetics)
• Child
• Child, Preschool
• Family
• Genetic Markers
• Genetic Predisposition to Disease (genetics)
• Humans
• Muscle Proteins (genetics)
• Tachycardia, Ventricular (classification, diagnosis, genetics)