Key result
Postmortem molecular autopsy of a 5.5-month-old infant with sudden unexpected death and endomyocardial fibroelastosis revealed two compound heterozygous MYBPC3 mutations, enabling cascade screening for the family.
Why the study?
Autopsies aim to clarify the cause of death, but relatives may also directly benefit from findings in the setting of heritable traits.
Population
A 5.5-months-old child with sudden unexpected cardiac death
Design
Case presentation
Authors
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Supports molecular autopsy for family screening after sudden infant death; leaves open broader recommendations pending larger studies.
Case Report (n=1)
Postmortem molecular autopsy in cases of sudden unexpected death in infancy can identify rare genetic causes like compound heterozygous MYBPC3 mutations, enabling crucial cascade screening and counseling for surviving relatives.
Hartung et al. (2021) conducted a case report in Sudden unexpected death syndrome (SUDS) and endomyocardial fibroelastosis (EFE) (n=1). Compound heterozygous MYBPC3 mutations was evaluated on Genetic cause of endomyocardial fibroelastosis and sudden death. Postmortem molecular autopsy of a 5.5-month-old infant with sudden unexpected death and endomyocardial fibroelastosis revealed two compound heterozygous MYBPC3 mutations, enabling cascade screening for the family.
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