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Pediatric Cardiology

Erschienen in:

05.07.2019 | Case Report

Heart Transplantation from Biventricular Support in Infant with Novel SMYD1 Mutation

verfasst von: Garrett N. Coyan, Matthew D. Zinn, Shawn C. West, Mahesh S. Sharma

Erschienen in: Pediatric Cardiology | Ausgabe 8/2019

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Abstract

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.

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Titel: Heart Transplantation from Biventricular Support in Infant with Novel SMYD1 Mutation
verfasst von: Garrett N. Coyan
Matthew D. Zinn
Shawn C. West
Mahesh S. Sharma
Publikationsdatum: 05.07.2019
Verlag: Springer US
Erschienen in: Pediatric Cardiology / Ausgabe 8/2019
Print ISSN: 0172-0643
Elektronische ISSN: 1432-1971
DOI: https://doi.org/10.1007/s00246-019-02139-7

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Springer Medizin

Heart Transplantation from Biventricular Support in Infant with Novel SMYD1 Mutation

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