Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome
Mulibrey nanism is a rare autosomal recessive syndrome caused by a mutation in the TRIM37 gene with severe growth retardation and multiple organ involvement. Early diagnosis is important because 50% of the patients develop congestive heart failure owing to constrictive pericarditis, and this condit...
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Tehran University of Medical Sciences
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doaj-b9ce65efaa084fc1b771fe0baccd26632020-11-25T04:05:19ZengTehran University of Medical SciencesJournal of Tehran University Heart Center1735-86202008-23712017-02-01114448Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism SyndromeTahereh Davarpasand0Maryam Sotoudeh Anvari1Mohammad Naderan2Mohammad Ali Boroumand3Hossein Ahmadi4Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran.Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran.Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran.Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran.Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran. Mulibrey nanism is a rare autosomal recessive syndrome caused by a mutation in the TRIM37 gene with severe growth retardation and multiple organ involvement. Early diagnosis is important because 50% of the patients develop congestive heart failure owing to constrictive pericarditis, and this condition plays a critical role in the final prognosis. A 37-year-old female patient presented with symptoms of dyspnea on exertion and shortness of breath. She had severe growth failure and craniofacial dysmorphic feature. Cardiac evaluation showed constrictive pericarditis, moderate pulmonary hypertension, and mild pericardial effusion. The patient underwent pericardiectomy, but her thick and adhesive pericardium forced the surgeon to do partial pericardiotomy. Our report underlines the importance of attention to probable Mulibrey nanism when confronting patients with primary amenorrhea, growth retardation, and dysmorphic features. Early cardiac examination is of great significance in the course of the disorder, and patients must be pericardiectomized to relieve the symptoms and increase survival. https://jthc.tums.ac.ir/index.php/jthc/article/view/648Mulibrey nanism • Pericarditisconstrictive • Amenorrhea • Syndactyly |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Tahereh Davarpasand Maryam Sotoudeh Anvari Mohammad Naderan Mohammad Ali Boroumand Hossein Ahmadi |
spellingShingle |
Tahereh Davarpasand Maryam Sotoudeh Anvari Mohammad Naderan Mohammad Ali Boroumand Hossein Ahmadi Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome Journal of Tehran University Heart Center Mulibrey nanism • Pericarditis constrictive • Amenorrhea • Syndactyly |
author_facet |
Tahereh Davarpasand Maryam Sotoudeh Anvari Mohammad Naderan Mohammad Ali Boroumand Hossein Ahmadi |
author_sort |
Tahereh Davarpasand |
title |
Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome |
title_short |
Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome |
title_full |
Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome |
title_fullStr |
Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome |
title_full_unstemmed |
Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome |
title_sort |
constrictive pericarditis and primary amenorrhea with syndactyly in an iranian female: mulibrey nanism syndrome |
publisher |
Tehran University of Medical Sciences |
series |
Journal of Tehran University Heart Center |
issn |
1735-8620 2008-2371 |
publishDate |
2017-02-01 |
description |
Mulibrey nanism is a rare autosomal recessive syndrome caused by a mutation in the TRIM37 gene with severe growth retardation and multiple organ involvement. Early diagnosis is important because 50% of the patients develop congestive heart failure owing to constrictive pericarditis, and this condition plays a critical role in the final prognosis. A 37-year-old female patient presented with symptoms of dyspnea on exertion and shortness of breath. She had severe growth failure and craniofacial dysmorphic feature. Cardiac evaluation showed constrictive pericarditis, moderate pulmonary hypertension, and mild pericardial effusion. The patient underwent pericardiectomy, but her thick and adhesive pericardium forced the surgeon to do partial pericardiotomy. Our report underlines the importance of attention to probable Mulibrey nanism when confronting patients with primary amenorrhea, growth retardation, and dysmorphic features. Early cardiac examination is of great significance in the course of the disorder, and patients must be pericardiectomized to relieve the symptoms and increase survival.
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topic |
Mulibrey nanism • Pericarditis constrictive • Amenorrhea • Syndactyly |
url |
https://jthc.tums.ac.ir/index.php/jthc/article/view/648 |
work_keys_str_mv |
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