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

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 neoaorti...

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Bibliographic Details
Published inCardiology in the young Vol. 33; no. 12; p. 2667
Main Authors 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
Format Journal Article
LanguageEnglish
Published England 01.12.2023
Subjects
SMAD 4
Hereditary haemorrhagic telangiectasia
Fontan
aortopathy
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Summary: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, but workup revealed a SMAD4 variant consistent with hereditary haemorrhagic telangiectasia/juvenile polyposis syndrome. This case underscores the importance of genetic modifiers in CHD, especially those with Fontan physiology.
ISSN:1467-1107
DOI:10.1017/S104795112300344X