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 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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:33 |
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| Enthalten in: |
Cardiology in the young - 33(2023), 12 vom: 11. Dez., Seite 2667-2669 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Grasty, Madison A [VerfasserIn] |
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| Links: |
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| Themen: |
Aortopathy |
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| Anmerkungen: |
Date Completed 16.12.2023 Date Revised 16.12.2023 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1017/S104795112300344X |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM363009175 |
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| 245 | 1 | 0 | |a Hereditary haemorrhagic telangiectasia and SMAD4 mutation in a patient with complex single ventricle heart disease |
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| 500 | |a Date Revised 16.12.2023 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Journal Article | |
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| 650 | 4 | |a Hereditary haemorrhagic telangiectasia | |
| 650 | 4 | |a SMAD 4 | |
| 650 | 4 | |a aortopathy | |
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| 700 | 1 | |a Mavroudis, Constantine D |e verfasserin |4 aut | |
| 700 | 1 | |a DeWitt, Aaron G |e verfasserin |4 aut | |
| 700 | 1 | |a Kozyak, Benjamin W |e verfasserin |4 aut | |
| 700 | 1 | |a Mamula, Peter |e verfasserin |4 aut | |
| 700 | 1 | |a MacFarland, Suzanne P |e verfasserin |4 aut | |
| 700 | 1 | |a Nuri, Muhammad A K |e verfasserin |4 aut | |
| 700 | 1 | |a Rogers, Lindsay S |e verfasserin |4 aut | |
| 700 | 1 | |a Rome, Jonathan J |e verfasserin |4 aut | |
| 700 | 1 | |a Gaynor, J William |e verfasserin |4 aut | |
| 700 | 1 | |a Goldberg, David J |e verfasserin |4 aut | |
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