Pediatric Cardiology

, Volume 40, Issue 8, pp 1745–1747 | Cite as

Heart Transplantation from Biventricular Support in Infant with Novel SMYD1 Mutation

  • Garrett N. Coyan
  • Matthew D. Zinn
  • Shawn C. West
  • Mahesh S. SharmaEmail author
Case Report


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.


SMYD1 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.

Ethical Approval

This article is a case report and did not require Institutional Review Board approval.

Informed Consent

Informed consent was obtained for all clinical activities described in this case report.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Division of Cardiothoracic Surgery, Children’s Hospital of PittsburghThe University of Pittsburgh Medical CenterPittsburghUSA
  2. 2.Division of Pediatric Cardiology, Children’s Hospital of PittsburghThe University of Pittsburgh Medical CenterPittsburghUSA
  3. 3.Division of Cardiothoracic Surgery, North Carolina Children’s HospitalThe University of North Carolina Medical CenterChapel HillUSA

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