Pathology and investigation of potentially hereditary sudden cardiac death syndromes in structurally normal hearts

SummarySudden cardiac death (SCD) in younger people is rarely due to ischaemic or hypertensive heart disease, but more commonly is a consequence of congenital heart defects, genetic abnormalities affecting the myocardium and other rare non-ischaemic causes. The potentially hereditary causes include cardiomyopathies, primary arrhythmogenic disorders (e.g. channelopathies) and some storage disorders. Here we describe a pragmatic approach to autopsies that may represent SCD due to a potentially hereditary condition. We consider briefly non-cardiac and cardiac causes of sudden death that should be excluded as part of a detailed autopsy investigation. We discuss the circumstances in which genetic analysis of material preserved at autopsy, followed by family screening, should be undertaken. We then describe the recently instigated UK Cardiac Pathology Network that aims to improve and maintain standards of autopsy investigation and to encourage subsequent genetic analysis of relevant material and family screening, in addition to setting up and maintaining a database of SCD due to these rare potentially hereditary conditions in the UK.