European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death.

Détails

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Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_1F50978130CD
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Institution
Titre
European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death.
Périodique
European journal of human genetics
Auteur(s)
Fellmann F., van El C.G., Charron P., Michaud K., Howard H.C., Boers S.N., Clarke A.J., Duguet A.M., Forzano F., Kauferstein S., Kayserili H., Lucassen A., Mendes Á., Patch C., Radojkovic D., Rial-Sebbag E., Sheppard M.N., Tassé A.M., Temel S.G., Sajantila A., Basso C., Wilde AAM, Cornel M.C.
Collaborateur(s)
on behalf of European Society of Human Genetics, European Council of Legal Medicine, European Society of Cardiology working group on myocardial and pericardial diseases, European Reference Network for rare, low prevalence and complex diseases of the heart (ERN GUARD-Heart), Association for European Cardiovascular Pathology
ISSN
1476-5438 (Electronic)
ISSN-L
1018-4813
Statut éditorial
Publié
Date de publication
12/2019
Peer-reviewed
Oui
Volume
27
Numéro
12
Pages
1763-1773
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Résumé
Sudden cardiac death (SCD) accounts for 10-20% of total mortality, i.e., one in five individuals will eventually die suddenly. Given the substantial genetic component of SCD in younger cases, postmortem genetic testing may be particularly useful in elucidating etiological factors in the cause of death in this subset. The identification of genes responsible for inherited cardiac diseases have led to the organization of cardiogenetic consultations in many countries worldwide. Expert recommendations are available, emphasizing the importance of genetic testing and appropriate information provision of affected individuals, as well as their relatives. However, the context of postmortem genetic testing raises some particular ethical, legal, and practical (including economic or financial) challenges. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with international experts, developed recommendations on management of SCD after a workshop sponsored by the Brocher Foundation and ESHG in November 2016. These recommendations have been endorsed by the ESHG Board, the European Council of Legal Medicine, the European Society of Cardiology working group on myocardial and pericardial diseases, the ERN GUARD-HEART, and the Association for European Cardiovascular Pathology. They emphasize the importance of increasing the proportion of both medical and medicolegal autopsies and educating the professionals. Multidisciplinary collaboration is of utmost importance. Public funding should be allocated to reach these goals and allow public health evaluation.
Mots-clé
Autopsy, Death, Sudden, Cardiac/epidemiology, Death, Sudden, Cardiac/pathology, Death, Sudden, Cardiac/prevention & control, European Union/organization & administration, Genetic Testing/standards, Heart Diseases/genetics, Heart Diseases/mortality, Heart Diseases/pathology, Humans, Myocardium/pathology
Pubmed
Web of science
Open Access
Oui
Création de la notice
26/07/2019 14:11
Dernière modification de la notice
25/07/2020 5:19
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