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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-Bahr
Published 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.
Keyphrases
  • left ventricular
  • genome wide
  • copy number
  • gene expression
  • atrial fibrillation