Hereditary Hemorrhagic Telangiectasia with SMAD4 Mutations Is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery Aneurysm, and Abdominal Aortic Aneurysm

A 52-year-old man with recurrent epistaxis and palpebral conjunctival telangiectasia visited our hospital for a follow-up checkup for gastrointestinal polyposis. At 48 years of age, he underwent Y-graft replacement for an abdominal aortic aneurysm. Arteriovenous malformation was detected in his lung...

Descripción completa

Detalles Bibliográficos
Autores principales: Inoguchi, Yasunori, Kaku, Bunji, Kitagawa, Naotaka, Katsuda, Shoji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6395134/
https://www.ncbi.nlm.nih.gov/pubmed/30210120
http://dx.doi.org/10.2169/internalmedicine.1287-18
_version_ 1783399029027110912
author Inoguchi, Yasunori
Kaku, Bunji
Kitagawa, Naotaka
Katsuda, Shoji
author_facet Inoguchi, Yasunori
Kaku, Bunji
Kitagawa, Naotaka
Katsuda, Shoji
author_sort Inoguchi, Yasunori
collection PubMed
description A 52-year-old man with recurrent epistaxis and palpebral conjunctival telangiectasia visited our hospital for a follow-up checkup for gastrointestinal polyposis. At 48 years of age, he underwent Y-graft replacement for an abdominal aortic aneurysm. Arteriovenous malformation was detected in his lungs, and a genetic test revealed an SMAD4 mutation. Eventually, he was diagnosed with juvenile polyposis-hereditary hemorrhagic telangiectasia (JP-HHT) syndrome. In addition, fatty degeneration of the left ventricle and a coronary aneurysm were detected. This is the first report suggesting the possibility of an association between these manifestations and JP-HHT due to SMAD4 mutations. Examining cardiovascular disorders in JP-HHT patients is imperative.
format Online
Article
Text
id pubmed-6395134
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher The Japanese Society of Internal Medicine
record_format MEDLINE/PubMed
spelling pubmed-63951342019-03-01 Hereditary Hemorrhagic Telangiectasia with SMAD4 Mutations Is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery Aneurysm, and Abdominal Aortic Aneurysm Inoguchi, Yasunori Kaku, Bunji Kitagawa, Naotaka Katsuda, Shoji Intern Med Case Report A 52-year-old man with recurrent epistaxis and palpebral conjunctival telangiectasia visited our hospital for a follow-up checkup for gastrointestinal polyposis. At 48 years of age, he underwent Y-graft replacement for an abdominal aortic aneurysm. Arteriovenous malformation was detected in his lungs, and a genetic test revealed an SMAD4 mutation. Eventually, he was diagnosed with juvenile polyposis-hereditary hemorrhagic telangiectasia (JP-HHT) syndrome. In addition, fatty degeneration of the left ventricle and a coronary aneurysm were detected. This is the first report suggesting the possibility of an association between these manifestations and JP-HHT due to SMAD4 mutations. Examining cardiovascular disorders in JP-HHT patients is imperative. The Japanese Society of Internal Medicine 2018-09-12 2019-02-01 /pmc/articles/PMC6395134/ /pubmed/30210120 http://dx.doi.org/10.2169/internalmedicine.1287-18 Text en Copyright © 2019 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Inoguchi, Yasunori
Kaku, Bunji
Kitagawa, Naotaka
Katsuda, Shoji
Hereditary Hemorrhagic Telangiectasia with SMAD4 Mutations Is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery Aneurysm, and Abdominal Aortic Aneurysm
title Hereditary Hemorrhagic Telangiectasia with SMAD4 Mutations Is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery Aneurysm, and Abdominal Aortic Aneurysm
title_full Hereditary Hemorrhagic Telangiectasia with SMAD4 Mutations Is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery Aneurysm, and Abdominal Aortic Aneurysm
title_fullStr Hereditary Hemorrhagic Telangiectasia with SMAD4 Mutations Is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery Aneurysm, and Abdominal Aortic Aneurysm
title_full_unstemmed Hereditary Hemorrhagic Telangiectasia with SMAD4 Mutations Is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery Aneurysm, and Abdominal Aortic Aneurysm
title_short Hereditary Hemorrhagic Telangiectasia with SMAD4 Mutations Is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery Aneurysm, and Abdominal Aortic Aneurysm
title_sort hereditary hemorrhagic telangiectasia with smad4 mutations is associated with fatty degeneration of the left ventricle, coronary artery aneurysm, and abdominal aortic aneurysm
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6395134/
https://www.ncbi.nlm.nih.gov/pubmed/30210120
http://dx.doi.org/10.2169/internalmedicine.1287-18
work_keys_str_mv AT inoguchiyasunori hereditaryhemorrhagictelangiectasiawithsmad4mutationsisassociatedwithfattydegenerationoftheleftventriclecoronaryarteryaneurysmandabdominalaorticaneurysm
AT kakubunji hereditaryhemorrhagictelangiectasiawithsmad4mutationsisassociatedwithfattydegenerationoftheleftventriclecoronaryarteryaneurysmandabdominalaorticaneurysm
AT kitagawanaotaka hereditaryhemorrhagictelangiectasiawithsmad4mutationsisassociatedwithfattydegenerationoftheleftventriclecoronaryarteryaneurysmandabdominalaorticaneurysm
AT katsudashoji hereditaryhemorrhagictelangiectasiawithsmad4mutationsisassociatedwithfattydegenerationoftheleftventriclecoronaryarteryaneurysmandabdominalaorticaneurysm

Ejemplares similares