ROORYCK, Caroline; KYNDT, Florence; BOZON, Dominique; ROUX-BUISSON, Nathalie; SACHER, Frederic; PROBST, Vincent; THAMBO, Jean-Benoit

doi:10.1111/jce.12763

Metadatos

Licencia de uso del documento

ROORYCK, Caroline
CHU de Bordeaux Pellegrin [Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]

KYNDT, Florence

BOZON, Dominique

Idioma

Article de revue

Este ítem está publicado en

Journal of Cardiovascular Electrophysiology. 2015-10-01, vol. 26, n° 10, p. 1146-1150

Resumen en inglés

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.< Leer menos

Palabras clave

Genetic arrhythmias

Palabras clave en inglés

Catecholaminergic polymorphic ventricular tachycardia

Presymptomatic testing

Sudden cardiac death

Triadin