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Article

Hereditary haemorrhagic telangiectasia and SMAD4 mutation in a patient with complex single ventricle heart disease.

Cardiology in the young - 1 Dec 2023

Grasty Madison A, Mavroudis Constantine D, DeWitt Aaron G, Kozyak Benjamin W, Mamula Peter, MacFarland Suzanne P, Nuri Muhammad A K, Rogers Lindsay S, Rome Jonathan J, Gaynor J William, Goldberg David J

Abstract excerpt

We report a case of hypoplastic left heart syndrome and with subsequent aortopathy and then found to have hereditary haemorrhagic telangiectasia/juvenile polyposis syndrome due to a germline SMAD4 pathologic variant. The patient's staged palliation was complicated by the development of neoaortic aneurysms, arteriovenous malformations, and gastrointestinal bleeding thought to be secondary to Fontan circulation,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37807723
DOI: 10.1017/S104795112300344X

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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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