Sudden cardiac death in young: A cardiac-focused autopsy and molecular study to identify the cause

Sudden cardiac death in young (SCDY) is a rare and important public health concern which needs to be addressed and documented. The present study was undertaken to identify the various cardiovascular causes and genetic factors leading to sudden cardiac death (SCD) in young individuals in North India.

All the suspected SCD cases meeting the inclusion criteria in the age group between 18 and 45 years, received at the forensic mortuary were studied over a period of four years (October 2019-November 2023). Detailed verbal and conventional autopsy, gross and microscopic examination of the heart with whole-exome genetic sequencing (WEGS) was performed to identify all the possible causes of death in these individuals.

A total of 59 cases were included. Mean age was 33.7 years with male predominance. Sudden unexplained death (SUD)/negative autopsy was the commonest (n = 21, 35.6 %), followed by coronary artery disease (CAD) with myocardial infarction (MI) (n = 17, 28.8 %) and structural cardiomyopathies (n = 15, 25.4 %). Hypertrophic cardiomyopathy (HCM) was the commonest structural cardiomyopathy. Congenital anomalies constituted 5 %. Isolated cases include myopericarditis, severe aortic stenosis, arrhythmogenic cardiomyopathy, post-partum cardiomyopathy, and cardiac rupture. Molecular yield in SUDs was 42.8 %. Sarcomeric genes (30.4 %) and Z-disk protein genes (21.7 %) constituted the most significant proportion, followed by genes associated with channelopathies and junctional proteins.

Negative autopsy/SUD constituted the most common observation in sudden young deaths, followed by CAD/MI. Molecular autopsy in sudden unexplained deaths in young will give a definitive molecular yield of 14.3 %.