A rare cause of sudden unexpected death syndrome (SUDS) in the first year of life: endomyocardial fibroelastosis (EFE) due to two compound heterozygous MYBPC3 mutations.
Benno HartungAnne TankSven DittmannStefanie Ritz-TimmeEric Schulze-BahrPublished in: BMC cardiovascular disorders (2021)
The presented case highlights the need for clinical autopsies including cardiac examinations and postmortem molecular testing; it also paves the way for further cascade screening of family members for cardiac disease, if a distinct genetic disorder is suspected.