Explaining Sudden Unexplained Death

Abstract

Sudden unexplained death (SUD) of the young is the term used for sudden deaths occurring before the age of 40 years, which remain unexplained despite analysis of all available antemortem information (usually because the victims had no family history of heart disease or warning symptoms) and a postmortem examination that was unrevealing or was not performed.1–3 For the surviving family members, the fact that the tragic death of a previously healthy relative remains unexplained only adds frustration and confusion to grief.4 Furthermore, because arrhythmic death in the young is often caused by familial diseases, reaching the correct diagnosis is important for those left behind, who may then receive appropriate prophylactic measures. Therefore, it is good clinical practice to systematically evaluate families of SUD victims in attempts to minimize the unexplained. Having said that, it is also important that family members considering screening be aware of the potential negative consequences associated with the diagnosis of an asymptomatic inheritable disease. Unjustified remorse or recrimination may torment parents of a deceased child, whereas unforeseen anxiety or disqualification from sports or life insurance policies may become problematic for asymptomatic, yet affected, siblings.5 A 1%/year risk of sudden death, as currently estimated for asymptomatic individuals with Brugada syndrome discovered through screening,6 may be perceived as reassuring by some but may be terrifying to others. Article see p 933 Evaluation of SUD families should begin with a meticulous review of available data concerning the index SUD victim. The circumstances of death are important: sleep-related death favors long-QT syndrome (LQTS) of the LQT3 type, short-QT syndrome, or Brugada syndrome (if male); sudden death during stress favors coronary disease (congenital coronary anomalies or premature atherosclerosis), cardiomyopathies, catecholaminergic polymorphic ventricular tachycardia (CPVT), or LQTS, whereas unexplained drowning favors LQT1 and CPVT.7 Favoring …