0185 : Genetic screening identifies a high proportion of mutations in patients with idiopathic ventricular fibrillation and sudden cardiac death

Abstract : Introduction Several gene defects are associated with idiopathic ventricular fibrillation (IVF) and sudden cardiac death (SCD). The recent development of NGS-based mutation screening provides a unique opportunity to estimate extensively the spectrum and prevalence of rare variants in genes associated with cardiac diseases. Methods Cohort 1 was composed of 75 patients resuscitated from cardiac arrest due to IVF. All patients have undergone a complete clinical cardiac examination including 12 lead-ECG, cardiac echography, coronography and exercise test. Cohort 2 was composed of 99 victims of SCD related to ventricular fibrillation younger than 45 years old and without explanation for the SCD at the time of the reanimation. Genetic screening was based on the use of the HaloPlex(tm) Target Enrichment System (Agilent Technologies) prior to HiSeq sequencing (Illumina). The custom kit designed for this study covers 163 genes previously reported as involved in cardiac arrhythmias, conduction defect and cardiomyopathies. Results In cohort 1, the mean age was 36±10 years with a male predominance (52 males, 69%). In cohort 2, the mean age was 37±7 years with a male predominance (76 males, 79%). In cohort 1, we identified 50 putative mutations in 35 patients (47%). In cohort 2, we identified 30 putative mutations in 24 patients (24%). Conclusion Our study identified mutations in almost 50 % of IVF patients after a complete cardiac evaluation. These results suggest that molecular analysis must be part of the work up in this kind of patients. In young patients affected by unexplained sudden death, the molecular analyses are less contributive probably because of a more important percentage of patients affected by ischemic cardiomyopathies.
Type de document :
Communication dans un congrès
Archives of Cardiovascular Diseases Supplements, Apr 2015, Toulouse, France. 7, pp.170, 2015, Printemps de la Cardiologie : Recherche Fondamentale et Clinique - Centre de Congrès Pierre Baudis, Toulouse, 2-3 avril 2015. 〈10.1016/S1878-6480(15)30107-5〉
Liste complète des métadonnées

https://hal-univ-rennes1.archives-ouvertes.fr/hal-01150486
Contributeur : Laurent Jonchère <>
Soumis le : lundi 11 mai 2015 - 13:35:23
Dernière modification le : lundi 25 juin 2018 - 09:33:30

Lien texte intégral

Identifiants

Citation

Vincent Probst, Solena Le Scouarnec, Florence Kyndt, Jean-Jacques Schott, Jean-Baptiste Gourraud, et al.. 0185 : Genetic screening identifies a high proportion of mutations in patients with idiopathic ventricular fibrillation and sudden cardiac death. Archives of Cardiovascular Diseases Supplements, Apr 2015, Toulouse, France. 7, pp.170, 2015, Printemps de la Cardiologie : Recherche Fondamentale et Clinique - Centre de Congrès Pierre Baudis, Toulouse, 2-3 avril 2015. 〈10.1016/S1878-6480(15)30107-5〉. 〈hal-01150486〉

Partager

Métriques

Consultations de la notice

229