Heart Transplantation from Biventricular Support in Infant with Novel SMYD1 Mutation
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SET and MYND domain-containing protein 1 (SMYD1) has been shown to be responsible for the development of fast twitch and cardiac muscle. Mutations in SMYD1 have been shown to be uniformly fatal in laboratory studies, and not previously described in living humans. We describe here the care of an infant suffering from cardiac failure due to an SMYD1 mutation requiring biventricular assist devices as a bridge to successful heart transplantation. The patient is now doing well 2 years post-transplant and represents a known survivor of a suspected uniformly fatal genetic mutation.
KeywordsSMYD1 mutation Pediatric ventricular assist device Heart transplant Biventricular assist
Compliance with Ethical Standards
Conflict of interest
The authors report no funding and no conflict of interest with this report.
This article is a case report and did not require Institutional Review Board approval.
Informed consent was obtained for all clinical activities described in this case report.