Unexplained sudden death, focussing on genetics and family phenotyping

Abstract

Purpose of review: Unexplained sudden death and the sudden arrhythmic death syndrome (SADS) affect a small but significant proportion of young and apparently healthy individuals. This review revisits the causes underlying such deaths and the investigational strategies that identify surviving family who may be at risk.

Recent findings: Recent epidemiological data is available from case series or government records. The yield from familial cardiological evaluation for inherited conditions has been supported by additional small series. The greatest advance has come with molecular autopsy studies, which have utilized various methodologies and candidate genes to investigate SADS cases and their families.

Summary: The latest research replicates and extends the existing knowledge regarding epidemiology and familial evaluation of SADS, whilst genetic studies support a role for the molecular autopsy.