Abstract
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.)
Similar content being viewed by others
References
Behr E, Wood DA, Wright M, Syrris P, Sheppard MN, Casey A, et al. Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome. Lancet. 2003;362:1457-9.
Hofman N, Tan HL, Clur SA, Alders M, van Langen I, Wilde AA. Contribution of inherited heart disease to sudden cardiac death in childhood. Pediatrics. 2007; 120:e967-73.
Behr ER, Dalageorgou C, Christiansen M, Syrris P, Hughes S, Tome Esteban MT, et al. Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J. 2008;29:1670-80.
Schwartz K, Carrier L, Guicheney P, Komajda M. Molecular basis of familial cardiomyopathies. Circulation. 1995;91:532-40.
Garson A Jr, Dick M, Fournier A, Gillette PC, Hamilton R, Kugler JD, et al. The long QT syndrome in children. An international study of 287 patients. Circulation. 1993;87:1866-72.
Tan HL, Hofman N, van Langen I, van der Wal AC, Wilde AA. Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation. 2005;112:207-13.
Vaartjes I, Hendrix A, Hertogh EM, Grobbee DE, Doevendans PA, Mosterd A, et al. Sudden death in persons younger than 40 years of age: incidence and causes. Eur J Cardiovasc Prev Rehabil. 2009;16:592-6.
Drory Y, Turetz Y, Hiss Y, Lev B, Fisman EZ, Pines A, et al. Sudden unexpected death in persons less than 40 years of age. Am J Cardiol. 1991;68:1388-92.
Basso C, Burke M, Fornes P, Gallagher PJ, de Gouveia RH, Sheppard M. et al. Guidelines for autopsy investigation of sudden cardiac death. Virchows Arch. 2008;452:11-8.
Clinical indications for genetic testing in familial sudden cardiac death syndromes: an HRUK position statement. Heart. 2008;94:502-7.
Oppewal F, Meyboom-de Jong B. Issues involved in Dutch general practitioners' failure to request autopsy: report from three focus groups. Ned Tijdschr Geneeskd. 2003;147:1315-8.
College van zorgverzekeraars. Bijlage bij pakketadvies, 2007 (www.cvz.nl).
de Vreede-Swagemakers JJ, Gorgels AP, Dubois-Arbouw WI, van Ree JW, Daemen MJ, Houben LG, et al. Out-of-hospital cardiac arrest in the 1990's: a population-based study in the Maastricht area on incidence, characteristics and survival. J Am Coll Cardiol. 1997;30:1500-5.
Casparie M, Tiebosch AT, Burger G, Blauwgeers H, van de Pol A, van Krieken JH, et al. Pathology databanking and biobanking in The Netherlands, a central role for PALGA, the nationwide histopathology and cytopathology data network and archive. Cell Oncol. 2007;29:19-24.
Author information
Authors and Affiliations
Corresponding author
Additional information
Interuniversity Cardiology Institute of the Netherlands, Utrecht and Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, the Netherlands
Drs. A. Hendrix and C. van der Werf contributed equally to this article.
Department of Cardiology, Academic Medical Center, Amsterdam, the Netherlands
Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, the Netherlands
Institute of Health Policy and Management, Erasmus Medical Center, Rotterdam, the Netherlands
Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands
Department of Cardiology, Leiden University Medical Center, Leiden, the Netherlands
Department of Pathology, University Medical Center Utrecht, Utrecht, the Netherlands
Department of General Practice, Academic Medical Center, Amsterdam, the Netherlands
Interuniversity Cardiology Institute of the Netherlands, Utrecht and Department of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands
Interuniversity Cardiology Institute of the Netherlands, Utrecht and Department of Cardiology, Academic Medical Center, Amsterdam, the Netherlands
Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, Departments of Cardiology, University Medical Center Utrecht, Utrecht, and Meander Medical Center, Amersfoort, the Netherlands
Department of Clinical Genetics, Academic Medical Center, Amsterdam; Currently: Department of Clinical Genetics, Academic Medical Centre, Groningen, the Netherlands
A. Hendrix Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht (STR 6.131), PO Box 85500, 3508 GA Utrecht, the Netherlands
Rights and permissions
About this article
Cite this article
Hendrix, A., van der Werf, C., Bots, M.L. et al. Rationale and design of the CAREFUL study . NHJL 18, 286–290 (2010). https://doi.org/10.1007/BF03091778
Issue Date:
DOI: https://doi.org/10.1007/BF03091778