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Intracardiac amorphous tumor presenting in a patient with homocystinuria; a case report with literature review

Homocystinuria is a rare genetic disease with autosomal recessive pattern. It is reported to be highest in Arabian descend and could cause thrombosis, but mainly peripherally. Cardiac amorphous tumor has been recognized in the past 20 years and it is also a very rare cause primary benign tumor of th...

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Autores principales: Hama-Karim, Diar S., Othman, Yad N., Majeed, Zryan Salar, Ali, Razhan K., Mohammed, Arian, Muhamad, Han Nihad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9870922/
https://www.ncbi.nlm.nih.gov/pubmed/36704364
http://dx.doi.org/10.1016/j.radcr.2022.12.040
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author Hama-Karim, Diar S.
Othman, Yad N.
Majeed, Zryan Salar
Ali, Razhan K.
Mohammed, Arian
Muhamad, Han Nihad
author_facet Hama-Karim, Diar S.
Othman, Yad N.
Majeed, Zryan Salar
Ali, Razhan K.
Mohammed, Arian
Muhamad, Han Nihad
author_sort Hama-Karim, Diar S.
collection PubMed
description Homocystinuria is a rare genetic disease with autosomal recessive pattern. It is reported to be highest in Arabian descend and could cause thrombosis, but mainly peripherally. Cardiac amorphous tumor has been recognized in the past 20 years and it is also a very rare cause primary benign tumor of the heart. Most of the cases reported to be associated with end-stage renal disease. Homocystinuria associated with Cardiac Amorphous tumor is extremely rare. Up to our knowledge, there has been only one other case has been reported. Our patient is a 14-year-old female known case of homocystinuria presented with dyspnea and leg edema. On workup was found to have a mass in the right atrium extending to superior vena cava and inferior cava. Surgery undertaken on cardiopulmonary bypass partial resection of the mass was done and result came back as cardiac amorphous tumor. We assume the cause of this sinister complication of her primary illness is calcification of thrombus as stated in literature. And also recommend further studies regarding issue on hand.
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spelling pubmed-98709222023-01-25 Intracardiac amorphous tumor presenting in a patient with homocystinuria; a case report with literature review Hama-Karim, Diar S. Othman, Yad N. Majeed, Zryan Salar Ali, Razhan K. Mohammed, Arian Muhamad, Han Nihad Radiol Case Rep Case Report Homocystinuria is a rare genetic disease with autosomal recessive pattern. It is reported to be highest in Arabian descend and could cause thrombosis, but mainly peripherally. Cardiac amorphous tumor has been recognized in the past 20 years and it is also a very rare cause primary benign tumor of the heart. Most of the cases reported to be associated with end-stage renal disease. Homocystinuria associated with Cardiac Amorphous tumor is extremely rare. Up to our knowledge, there has been only one other case has been reported. Our patient is a 14-year-old female known case of homocystinuria presented with dyspnea and leg edema. On workup was found to have a mass in the right atrium extending to superior vena cava and inferior cava. Surgery undertaken on cardiopulmonary bypass partial resection of the mass was done and result came back as cardiac amorphous tumor. We assume the cause of this sinister complication of her primary illness is calcification of thrombus as stated in literature. And also recommend further studies regarding issue on hand. Elsevier 2023-01-19 /pmc/articles/PMC9870922/ /pubmed/36704364 http://dx.doi.org/10.1016/j.radcr.2022.12.040 Text en © 2022 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Hama-Karim, Diar S.
Othman, Yad N.
Majeed, Zryan Salar
Ali, Razhan K.
Mohammed, Arian
Muhamad, Han Nihad
Intracardiac amorphous tumor presenting in a patient with homocystinuria; a case report with literature review
title Intracardiac amorphous tumor presenting in a patient with homocystinuria; a case report with literature review
title_full Intracardiac amorphous tumor presenting in a patient with homocystinuria; a case report with literature review
title_fullStr Intracardiac amorphous tumor presenting in a patient with homocystinuria; a case report with literature review
title_full_unstemmed Intracardiac amorphous tumor presenting in a patient with homocystinuria; a case report with literature review
title_short Intracardiac amorphous tumor presenting in a patient with homocystinuria; a case report with literature review
title_sort intracardiac amorphous tumor presenting in a patient with homocystinuria; a case report with literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9870922/
https://www.ncbi.nlm.nih.gov/pubmed/36704364
http://dx.doi.org/10.1016/j.radcr.2022.12.040
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