Genetics and arrhythmias: for whom? why? how?

被引:0
|
作者
Leenhardt, A. [1 ,2 ]
Extramiana, F. [1 ,2 ]
Messali, A. [1 ,2 ]
Maison-Blanche, P. [1 ,2 ]
Dejode, P. [1 ,2 ]
Fressart, V. [3 ]
Berthet, M. [4 ,5 ]
Guicheney, P. [3 ,4 ,5 ]
Charron, P. [5 ,6 ,7 ]
Hainque, B. [3 ]
Lupoglazoff, J. -M. [4 ,5 ,8 ,9 ]
Denjoy, I. [1 ,2 ,4 ,5 ]
机构
[1] Univ Paris 07, Hop Lariboisiere, AP HP, Dept Cardiol, F-75475 Paris 10, France
[2] Univ Paris 07, Hop Lariboisiere, AP HP, Ctr Reference Malad Cardiaques Hereditaires, F-75475 Paris 10, France
[3] Grp Hosp Pitie Salpetriere, Serv Biochim B, UF Cardiogenet & Myogenet, F-75634 Paris, France
[4] Grp Hosp Pitie Salpetriere, Inserm, U582, F-75634 Paris, France
[5] Univ Paris 06, IFR14, Paris, France
[6] Grp Hosp Pitie Salpetriere, Dept Genet, Ctr Reference Malad Cardiaques Hereditaires, F-75634 Paris, France
[7] Grp Hosp Pitie Salpetriere, U621, Inserm, F-75634 Paris, France
[8] Univ Paris 07, Hop Robert Debre, AP HP, Dept Cardiol Neonatale, Paris, France
[9] Univ Paris 07, Hop Robert Debre, AP HP, Ctr Reference Malad Cardiaques Hereditaires, Paris, France
关键词
Genetics; Mutations; Ionic channels; Long QT syndrome; Catecholaminergic polymorphic ventricular tachycardia; Brugada syndrome; Short QT syndrome; Arrhythmogenic dysplasia of the right ventricle;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
There have been important developments in genetics in the past few years, particularly in the study of arrhythmias, which has introduced a molecular approach to cardiac rhythm disorders. The knowledge on hereditary rhythm pathologies has evolved rapidly with the identification of new genes and new mutations and more recently with new data on gene expression regulation. Highly significant advances have thus been made in the clinical as well as in the physiopathologic and therapeutic domains. Molecular biology is a complementary tool that provides that can assist the clinician in a variety of ways in different situations (diagnosis, prognosis, predictive, prenatal) depending on the rhythm pathology studied. The objective of this study was to review the relevance of genetics in the main monogenic cardiac rhythm disorders in terms of diagnosis, prognosis, and therapeutics. Genetic testing is returned to this context so that those requesting such testing take into account its medical, psychological, and socioprofessional dimensions as well as its medical-legal framework. This request should take place within broader genetic counseling based on patient information and screening that takes place within the family. The need for a recognized, experienced and often multidisciplinary team (cardiologist, geneticist-clinician, or a counselor in genetics, social worker, obstetrician, etc.) will be emphasized. This team should tie part of the Health Ministry's "Rare Diseases Plan" (2005-2009) and should be designated as one of the Reference Centers and then Centers of Competence in the domain. (C) 2008 Published by Elsevier Masson SAS.
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页码:3 / 14
页数:12
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