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Article

A rare case of isolated right atrial enlargement and TBX5 mutation associated with Holt-Oram syndrome.

Prenatal diagnosis - 1 Jul 2023

Kikano Sandra D, Belay Wubishet, Kavanaugh-McHugh Ann

Abstract excerpt

Holt-Oram syndrome or atriodigital dysplasia is commonly associated with cardiac malformations, most often with defects of the muscular septum. We describe the case of a fetus referred for fetal cardiology evaluation in the setting of right atrial enlargement without tricuspid valve abnormalities with small muscular VSDs, and without other significant cardiac lesions. On serial fetal echocardiograms, isolated...

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Source

Identifiers

PMID: 37340539
DOI: 10.1002/pd.6399

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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