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New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene |
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| Authors: | CAROLINE ROORYCK M.D. Ph.D. FLORENCE KYNDT Pharm.D. Ph.D. DOMINIQUE BOZON Ph.D. NATHALIE ROUX‐BUISSON M.D. Ph.D. FREDERIC SACHER M.D. Ph.D. VINCENT PROBST M.D. Ph.D. JEAN‐BENOIT THAMBO M.D. Ph.D. |
| Affiliation: | 1. Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), Bordeaux, France;2. LIRYC, L'Institut de rythmologie et modélisation cardiaque, Université de Bordeaux INSERM, France;3. Service des cardiopathies congénitales, H?pital Cardiologique du Haut‐Lévêque, CHU Bordeaux, Bordeaux, France;4. Institut du thorax, Clinique Cardiologique Inserm, CHU de Nantes, France;5. Laboratoire de Cardiogénétique Moléculaire, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, France;6. INSERM U836, Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, Grenoble, France |
| 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. |
| Keywords: | catecholaminergic polymorphic ventricular tachycardia genetic arrhythmias presymptomatic testing sudden cardiac death triadin |