title: [Presymptomatic screening after a sudden cardiac death in the family].
abstract: Sudden cardiac death without ischaemic heart disease may be due to a hereditary heart disease with an autosomal dominant heredity. The occurrence, if any, of sudden death in such a family is a main indicator for the risk of sudden cardiac death in other family members. Cardiological and/or genetic investigation may reveal a hereditary disease in relatives without symptoms. Of some of these pathological conditions, the corresponding chromosomal localizations and sometimes the gene mutations have been identified. The psychic burden of family investigation and the socio-economic consequences (insurances, occupation, family relationships) are potentially heavy. Prophylactic treatment of asymptomatic persons in whom a gene mutation is established may comprise advice about lifestyle (e.g. avoidance of peak exercise in patients with hypertrophic cardiomyopathy), medication (e.g. beta-receptor blockers in patients with a long QT interval) or implantation of a pacemaker or internal defibrillator (e.g. in asymptomatic persons with the Brugada syndrome, a form of right bundle branch block). Presymptomatic investigation must be performed multidisciplinary.
authors.affiliation: Academisch Medisch Centrum, Amsterdam. a.a.wilde@amc.uva.nl
authors.forename: A A
authors.initials: AA
authors.lastname: Wilde
authors.forename: I M
authors.initials: IM
authors.lastname: van Langen
authors.forename: J P
authors.initials: JP
authors.lastname: van Tintelen
authors.forename: R N
authors.initials: RN
authors.lastname: Hauer
mesh_terms: D002318:Cardiovascular Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D016757:Death, Sudden, Cardiac / Q000209:etiology*; D003937:Diagnosis, Differential; D004562:Electrocardiography; D005820:Genetic Testing; D006801:Humans