Molecular basis of sarcomeric variants and the modifying role of non-sarcomeric genes in Sudden unexplained nocturnal death syndrome (SUNDS)

Sudden unexplained nocturnal death syndrome (SUNDS), a subtype of sudden unexplained death, predominantly affects young, otherwise healthy individuals, with a higher prevalence in males and a geographic concentration in Southeast Asia, particularly Thailand. Despite extensive investigation, the genetic basis of SUNDS remains incompletely understood. Sarcomeric and non-sarcomeric gene variants were investigated in 98 SUNDS cases using whole-exome sequencing (WES). Postmortem cardiac examination and molecular modeling were performed to assess myocardial abnormalities and the structural impact of selected sarcomeric variants.