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Biventricular non-compaction cardiomyopathy and tricuspid hypoplasia in a novel non-POU domain-containing octamer-binding gene variant

Part of: Cardiac Morphology

Published online by Cambridge University Press:  12 January 2022

Sanam Safi Open the ORCID record for Sanam Safi [Opens in a new window] ,
Stephen P. Sanders ,
Melissa Zhao  and
Chrystalle Katte Carreon
Sanam Safi*
Affiliation:
Cardiac Registry, Departments of Cardiology, Pathology, and Cardiac Surgery, Boston Children’s Hospital, Boston, MA, USA Department of Cardiology, Gentofte University Hospital, Copenhagen, Denmark
Stephen P. Sanders
Affiliation:
Cardiac Registry, Departments of Cardiology, Pathology, and Cardiac Surgery, Boston Children’s Hospital, Boston, MA, USA Department of Pediatrics, Harvard Medical School, Boston, MA, USA
Melissa Zhao
Affiliation:
Department of Pathology, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA, USA
Chrystalle Katte Carreon
Affiliation:
Cardiac Registry, Departments of Cardiology, Pathology, and Cardiac Surgery, Boston Children’s Hospital, Boston, MA, USA Department of Pathology, Boston Children’s Hospital and Harvard Medical School, Boston, MA, USA
*
Author for correspondence: S. Safi, Cardiac Registry, Departments of Cardiology, Pathology, and Cardiac Surgery, Boston Children’s Hospital, Boston, MA, USA. Tel: +4538673331. E-mails: [email protected], [email protected]
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Abstract

A maternally inherited novel pathogenic non-POU domain-containing octamer-binding gene variant c.767G>T, p.R256I [NM_001145408], manifested in a male infant as dilated cardiomyopathy with severe left ventricular dysfunction and dilation, biventricular non-compaction, tricuspid hypoplasia, and hydrocephaly. To the best of our knowledge, no previous non-POU domain-containing octamer-binding gene variants with biventricular non-compaction have been associated with tricuspid valve hypoplasia. Hence, this case introduces a new pathogenic variant observed in the non-POU domain-containing octamer-binding gene and adds to the range of cardiac phenotypes identified in non-POU domain-containing octamer-binding gene variants.

Keywords

Non-compaction cardiomyopathybiventricular non-compactiontricuspid hypoplasianon-POU domain-containing octamer-binding genenon-POU domain-containing octamer-binding gene variantCHDNONO cardiomyopathy
Type
Brief Report
Information
Cardiology in the Young , Volume 32 , Issue 8 , August 2022 , pp. 1333 - 1337
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Copyright
© The Author(s), 2022. Published by Cambridge University Press

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