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Article

Holt-Oram syndrome presenting as agenesis of the left pericardium.

International journal of cardiology - 2 Jan 2007

Dias Ricardo Ribeiro, Albuquerque João M A C, Pereira Alexandre C, Stolf Noedir A G, Krieger Jose E, Mady Charles, Oliveira Sérgio A

Abstract excerpt

We report on a case of a 60-year-old man with progressive heart failure, mitral and aortic valve insufficiency and bilateral asymmetrical skeletal upper-limb deformities. Central to the suspicion of Holt-Oram syndrome in this patient was the surgical finding of agenesis of the left pericardium. A Holt-Oram syndrome diagnostic was confirmed through molecular analysis of the TBX5 gene. A new amino acid substitution...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16376438
DOI: 10.1016/j.ijcard.2005.09.056

Genes

TBX5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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