The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probands.

Abstract : AIMS: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmic disorder with a highly malignant clinical course. Exercise-stress test is the first-line approach to diagnose suspected individuals. We sought to elucidate the value of exercise-stress test for predicting mutations and future cardiac events in CPVT-family relatives. METHODS AND RESULTS: The present study included 67 asymptomatic relatives (24 ± 15 years) of 17 genetically positive CPVT probands, who underwent exercise-stress test without any medication and genetic testing. Exercise-stress test, which was considered positive with the induction of ventricular tachycardia or premature ventricular contractions consisting of bigeminy or couplets, was positive in 17 relatives (25%). Genetic analysis disclosed mutations in 16 of these 17 relatives (94%) and in 16 of the 50 relatives (32%) with negative exercise-stress test; the sensitivity and specificity for a positive genotype were 50 and 97%, respectively (P< 0.001). Among 32 mutation carriers, cardiac events occurred in 7 of the 16 relatives with positive and 2 of the 16 relatives with negative exercise-stress test during the follow-up period of 9.6 ± 3.8 years, and four with positive and two with negative stress test were not on regular beta-blocker treatment at these events. In the 16 relatives with positive stress test, those on beta-blocker treatment demonstrated a trend of lower cardiac event rate (Log-rank P= 0.054). CONCLUSION: In asymptomatic relatives of CPVT probands, exercise-stress test can be used as a simple diagnostic tool. Nevertheless, because of the low sensitivity for predicting mutations and future cardiac events in those with negative stress test, genetic analysis should be performed to improve patient management.
Type de document :
Article dans une revue
EP-Europace, Oxford University Press (OUP): Policy B, 2012, 14 (9), pp.1344-51. 〈10.1093/europace/eus031〉
Liste complète des métadonnées

Littérature citée [22 références]  Voir  Masquer  Télécharger

http://www.hal.inserm.fr/inserm-00905386
Contributeur : Nathalie Roux-Buisson <>
Soumis le : lundi 18 novembre 2013 - 11:04:11
Dernière modification le : mercredi 21 mars 2018 - 18:57:36
Document(s) archivé(s) le : samedi 8 avril 2017 - 00:03:04

Fichier

 Accès restreint
Fichier visible le : jamais

Connectez-vous pour demander l'accès au fichier

Identifiants

Collections

Citation

Miyuki Hayashi, Isabelle Denjoy, Meiso Hayashi, Fabrice Extramiana, Alice Maltret, et al.. The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probands.. EP-Europace, Oxford University Press (OUP): Policy B, 2012, 14 (9), pp.1344-51. 〈10.1093/europace/eus031〉. 〈inserm-00905386〉

Partager

Métriques

Consultations de la notice

292