Strategy for clinical evaluation and screening of sudden cardiac death relatives

Fundam Clin Pharmacol. 2010 Oct;24(5):619-35. doi: 10.1111/j.1472-8206.2010.00864.x.


Sudden cardiac death (SCD) may be the first and final manifestation of several heart diseases. In the young, SCD is often caused by a hereditary cardiac disease. As the most frequently seen inherited cardiac diseases have an autosomal-dominant pattern of inheritance, half of the first-degree relatives are at risk of having or developing the same disease. Therefore, screening of these high-risk relatives is a rational approach to reduce the incidence of SCD. To offer family screening and counseling, the cause of death should be carefully established. Autopsy is only performed in a limited number of cases. We advocate for systematic autopsies in SCD, because positive findings are crucial for choosing the optimal screening program for the relatives. A negative autopsy makes identification of at-risk population difficult. However, this finding also provides clues to the cardiologist, because a limited number of inherited cardiac diseases associated with SCD are without any structural changes. In other cases, the autopsy may reveal noncardiac causes of death, which is also important for reassuring the relatives. However, in cases with no autopsy or negative findings, thorough clinical examinations and selective genetic screening of relatives may identify a likely diagnosis in more than 50% of affected families. There is a need for consensus regarding routine evaluation of SCD cases and the ethical and legal framework related to postmortem testing. We propose an algorithm that narrows the diagnostic possibilities in apparently healthy relatives of young SCD victims. Molecular autopsy may play an important role.

Publication types

  • Review

MeSH terms

  • Algorithms
  • Autopsy / methods
  • Death, Sudden, Cardiac / etiology
  • Death, Sudden, Cardiac / prevention & control*
  • Genetic Predisposition to Disease
  • Genetic Testing / methods*
  • Heart Diseases / complications
  • Heart Diseases / diagnosis*
  • Heart Diseases / genetics
  • Humans
  • Mass Screening / methods