title: 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.affiliation: Univ. Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), Bordeaux, France.|LIRYC, L'Institut de rythmologie et modélisation cardiaque, Université de Bordeaux INSERM, France.|Service des cardiopathies congénitales, Hôpital Cardiologique du Haut-Lévêque, CHU Bordeaux, Bordeaux, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Rooryck
authors.affiliation: Institut du thorax, Clinique Cardiologique Inserm, CHU de Nantes, France.
authors.forename: Florence
authors.initials: F
authors.lastname: Kyndt
authors.affiliation: Laboratoire de Cardiogénétique Moléculaire, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, France.
authors.forename: Dominique
authors.initials: D
authors.lastname: Bozon
authors.affiliation: INSERM U836, Grenoble Institut des Neurosciences, Equipe Muscle et Pathologies, Grenoble, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Roux-Buisson
authors.affiliation: LIRYC, L'Institut de rythmologie et modélisation cardiaque, Université de Bordeaux INSERM, France.
authors.forename: Frederic
authors.initials: F
authors.lastname: Sacher
authors.affiliation: Institut du thorax, Clinique Cardiologique Inserm, CHU de Nantes, France.
authors.forename: Vincent
authors.initials: V
authors.lastname: Probst
authors.affiliation: LIRYC, L'Institut de rythmologie et modélisation cardiaque, Université de Bordeaux INSERM, France.|Service des cardiopathies congénitales, Hôpital Cardiologique du Haut-Lévêque, CHU Bordeaux, Bordeaux, France.
authors.forename: Jean-Benoit
authors.initials: JB
authors.lastname: Thambo
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005190:Family; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics*; D017180:Tachycardia, Ventricular / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*; D000098850:Polymorphic Catecholaminergic Ventricular Tachycardia
chemical_list: D002352:Carrier Proteins; D005819:Genetic Markers; D009124:Muscle Proteins; C498269:TRDN protein, human
keywords: catecholaminergic polymorphic ventricular tachycardia; genetic arrhythmias; presymptomatic testing; sudden cardiac death; triadin