RESUMO
Multidisciplinary cardiogenetic consulting offers a global clinical approach to patients suffering from channelopathies or hereditary cardiomyopathies. Mutation is discovered in around 50 % of the cases. Several experts are working together to bring probands and their families useful and necessary informations to help them understanding causes, consequences and support of their disease. This approach is developped in close collaboration with the treating physician.
La consultation multidisciplinaire de cardiogénétique offre une approche globale spécialisée aux patients souffrant de canalopathies ou de cardiomyopathies héréditaires. Une mutation génétique est identifiée dans près de 50 % des cas. Les différents experts engagés travaillent conjointement pour apporter aux patients et à leurs familles les renseignements utiles et nécessaires pour comprendre les causes, les conséquences et la prise en charge de la maladie concernée. La consultation se fait en étroite collaboration avec les médecins traitants.
Assuntos
Cardiomiopatias/genética , Canalopatias/genética , Aconselhamento Genético/métodos , Cardiomiopatias/fisiopatologia , Canalopatias/fisiopatologia , Humanos , Comunicação Interdisciplinar , Mutação , Relações Médico-PacienteRESUMO
There is a need to standardise, within a coordinated Swiss framework, the practical aspects of genetic testing and genetic counselling on possibly inherited cardiovascular disorders in relatives of a sudden cardiac death (SCD) victim. Because of the major advances in genetic investigation techniques and recent publication of international guidelines in the field of cardiology, genetics and pathology, we consider it important to summarise the current evidence and propose an optimal approach to post-mortem genetic investigation for SCD victims and their families in Switzerland. In this article, we discuss important technical, financial and medico-ethical aspects, and provide updated information on specific situations in which forensic pathologists, general practitioners and cardiologists should suspect a genetic origin of the SCD. At present, the principles of benefit, the duty to warn and the impact of genetic information for family members at risk are considered as strong justifications for post-mortem disclosure and prevail over the arguments of respect for a deceased person's privacy and confidentiality. This paper underlines also the need to update and improve the general knowledge concerning the genetic risk of cardiovascular pathologies, the importance to perform an autopsy and post-mortem genetic testing in SCD victims, and to develop standardized post-mortem disclosure policy at national and international levels for SCD cases and relatives.