Undiagnosed Congenital Heart Defects as a Cause of Sudden, Unexpected Death in Children

Abstract

Despite advances in the diagnosis and treatment of congenital heart defects (CHDs), these defects are still an important cause of sudden, unexpected death in young children. This retrospective study identified 64 cases of CHDs presenting as a cause of sudden, unexpected death in a busy, urban Medical Examiner's Office pediatric population between 2006 and 2016. The majority of cases (52 of 64, 81%) were infants. Interestingly, 52% of cases were undiagnosed prior to autopsy. Ventricular septal defects and atrioventricular septal defects were the most common simple (14%) and complex (17%) malformations observed, respectively. In many cases, there were coexistent simple and/or complex defects. Most of the cases diagnosed with CHD prior to autopsy (48%) had undergone some type of surgical repair. This study highlights the importance of considering undiagnosed CHDs as a cause of sudden, unexpected death, particularly in young children.

Keywords: autopsies; congenital heart defects; congenital heart disease; forensic pathology; forensic science; pediatric population; sudden death.