Rationale and design of the CAREFUL study The yield of CARdiogenetic scrEening in First degree relatives of sudden cardiac and UnexpLained death victims <45 years

• Published in: Netherlands heart journal Vol. 18; no. 6; pp. 286 - 290
• Main Authors: Hendrix, A., van der Werf, C., Bots, M. L., Birnie, E., van der Smagt, J. J., Borleffs, C. J. W., Vink, A., van Weert, H. C., Doevendans, P. A. F. M., Wilde, A. A. M., Mosterd, A., van Langen, I. M.
• Format: Journal Article
• Language: Dutch; English
• Published: Houten Bohn Stafleu van Loghum 01.06.2010
• Subjects: Cardiology; Medical Education; Medicine; Medicine & Public Health; Study Design; Study Design Article; Death; Family; Bereavement; Attitude to Death; Genetic Counseling; Social Support
• DOI: 10.1007/BF03091778
• ISSN: 1568-5888

Background. Sudden cardiac death (SCD) in the young (1-45 years) is a strong risk factor for the presence of inherited cardiac diseases in surviving first-degree relatives. Postmortem investigation of the victim and cardiogenetic evaluation of the first-degree relatives is indicated to detect inherited cardiac diseases and treat relatives at an early stage to prevent SCD. In the Netherlands, postmortem investigation is often not performed and relatives of SCD and sudden unexplained death (SUD) victims are rarely evaluated for inherited cardiac diseases.Methods. A prospective population-based follow-up study carried out in two intervention regions and two control regions. In the intervention regions a comprehensive intervention (stimulate autopsy and storage of victims DNA and the referral of first-degree relatives for cardiogenetic evaluation) is applied in a 'top down' and 'bottom up' mode. In each region, young sudden death victims are registered and for all cases performance of autopsy and evaluation of relatives in a cardiogenetics outpatient clinic will be determined.Expected results. The study will provide information on the incidence of sudden death in the young and the proportion of diagnosed inherited cardiac diseases. Moreover, the additional value of the introduction of two different preventive strategies directed at early detection of inherited cardiac diseases in first-degree relatives to usual care will be evaluated. Conclusion. The CAREFUL study will help to set a new standard of care in the evaluation of young sudden death victims and their relatives to identify the presence of inherited cardiac diseases, in order to prevent sudden death. (Neth Heart J 2010;18:286-90.).