Cardiogenetic screening of first-degree relatives after sudden cardiac death in the young: a population-based approach

Abstract

This editorial refers to ‘Cardiogenetic screening of first-degree relatives after sudden cardiac death in the young: a population-based approach’ by A. Hendrix et al. , on page 716. The term sudden unexpected death syndrome (SUDS) was first used by Professor Michael Davies 25 years ago to describe deaths that remain unexplained despite expert pathological review.1 He recommended that SUDS be made a specific diagnostic category on the death certificate to aid bereaved families and to promote research in the field. Sudden unexpected death syndrome or, as it is frequently termed, sudden arrhythmic death syndrome (SADS) represents a potentially avoidable cause of death in an otherwise healthy individual. The emotional and psychological consequences of these deaths are devastating for the families affected and this is compounded by the fact that a significant proportion are due to inherited conditions, hence raising complex questions regarding clinical and genetic screening and its consequences. Once one excludes acute myocardial infarction and structural heart disease (e.g. hypertrophic cardiomyopathy, aortic stenosis, and anomalous coronary arteries), the principal causes of sudden deaths are electrical-ion channelopathies: long QT syndrome, Brugada syndrome, cathecholaminergic polymorphic ventricular tachycardia, and concealed forms of cardiomyopathy such as arrhythmogenic right ventricular cardiomyopathy (ARVC). A cardiologist facing the task of screening families for these disorders must be prepared to keep an open mind and ensure that first-degree relatives are …