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

Sanam Safi, Stephen P Sanders, Melissa Zhao, Chrystalle Katte Carreon

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.

OriginalsprogEngelsk
TidsskriftCardiology in the Young
Vol/bind32
Udgave nummer8
Sider (fra-til)1333-1337
Antal sider5
ISSN1047-9511
DOI
StatusUdgivet - aug. 2022

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