Sudden Unexplained Death – Treating the Family

Sudden unexplained death in the context of a normal heart at post-mortem and negative toxicological analysis is termed sudden arrhythmic death syndrome (SADS). SADS is often due to cardiac genetic disease, particularly channelopathies. Assessment of family members of SADS victims will reveal at least one affected individual in up to half of families. Specialist evaluation begins with an expert cardiac autopsy that improves diagnostic accuracy and minimises erroneous interpretation of minor pathological findings. Retention of appropriate material for post-mortem genetic testing, ‘the molecular autopsy’, is recommended as this may provide a genetic diagnosis in up to a third of cases. Clinical assessment of families initially comprises 12-lead ECG with high right ventricular leads, echocardiogram and exercise testing. Additional investigations include sodium channel blocker and epinephrine provocation tests. Families with a diagnosis should be managed as per guidelines. Those with negative investigations can generally be discharged unless they are young and/or symptomatic.