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New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene.
ROORYCK, Caroline
CHU de Bordeaux Pellegrin [Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
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CHU de Bordeaux Pellegrin [Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
ROORYCK, Caroline
CHU de Bordeaux Pellegrin [Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
CHU de Bordeaux Pellegrin [Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
THAMBO, Jean-Benoit
Centre de recherche Cardio-Thoracique de Bordeaux [Bordeaux] [CRCTB]
IHU-LIRYC
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
Hôpital Haut-Lévêque [CHU Bordeaux]
CHU Pessac
Institut de rythmologie et modélisation cardiaque [Pessac] [IHU Liryc]
< Reduce
Centre de recherche Cardio-Thoracique de Bordeaux [Bordeaux] [CRCTB]
IHU-LIRYC
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
Hôpital Haut-Lévêque [CHU Bordeaux]
CHU Pessac
Institut de rythmologie et modélisation cardiaque [Pessac] [IHU Liryc]
Language
EN
Article de revue
This item was published in
Journal of Cardiovascular Electrophysiology. 2015-10-01, vol. 26, n° 10, p. 1146-1150
English 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 ...Read more >
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.Read less <
Keywords
Genetic arrhythmias
English Keywords
Catecholaminergic polymorphic ventricular tachycardia
Presymptomatic testing
Sudden cardiac death
Triadin