Description:
<jats:p>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.</jats:p>