Presymptomatisch onderzoek na plotselinge hartdood in de familie

- 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.