Uhl's Disease: an Uncommon Presentation of a Rare Disease
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.17/3351 |
Resumo: | Uhl's disease, also known as Uhl anomaly, is a rare disease secondary to selective but uncontrolled apoptosis of right ventricular myocytes during the perinatal period, after complete cardiac development, leading to the absence of right ventricular myocardium and the direct apposition of endocardium to epicardium without a myocardial layer in between, resulting in right ventricular failure. The present paper describes a case of Uhl's disease with an uncommon presentation. A 28-year-old man was admitted with dyspnea and cyanosis. Transthoracic echocardiography showed severe dilation of the right chambers, impaired right ventricular systolic function and a large ostium secundum atrial septal defect (ASD). Cardiac catheterization revealed pulmonary hypertension, with increased pulmonary capillary wedge pressure (mean 19mmHg) and Qp:QS 0.88:1. At this point, the authors considered that a main diagnosis of ASD could not explain the clinical features and hemodynamic data. A primary disease of the right ventricle was the most likely hypothesis and cardiac magnetic resonance imaging was performed, which demonstrated an extremely thin-walled right ventricle, with almost complete absence of right ventricular free wall myocardium, compatible with Uhl's disease. |
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Uhl's Disease: an Uncommon Presentation of a Rare DiseaseAdultCardiomegalyCyanosisEchocardiographyHumansHypertension, PulmonaryMagnetic Resonance ImagingMaleCardiomyopathy, DilatedHeart Defects, CongenitalHSM CARHSM CAR PEDUhl's disease, also known as Uhl anomaly, is a rare disease secondary to selective but uncontrolled apoptosis of right ventricular myocytes during the perinatal period, after complete cardiac development, leading to the absence of right ventricular myocardium and the direct apposition of endocardium to epicardium without a myocardial layer in between, resulting in right ventricular failure. The present paper describes a case of Uhl's disease with an uncommon presentation. A 28-year-old man was admitted with dyspnea and cyanosis. Transthoracic echocardiography showed severe dilation of the right chambers, impaired right ventricular systolic function and a large ostium secundum atrial septal defect (ASD). Cardiac catheterization revealed pulmonary hypertension, with increased pulmonary capillary wedge pressure (mean 19mmHg) and Qp:QS 0.88:1. At this point, the authors considered that a main diagnosis of ASD could not explain the clinical features and hemodynamic data. A primary disease of the right ventricle was the most likely hypothesis and cardiac magnetic resonance imaging was performed, which demonstrated an extremely thin-walled right ventricle, with almost complete absence of right ventricular free wall myocardium, compatible with Uhl's disease.ElsevierRepositório do Centro Hospitalar Universitário de Lisboa Central, EPEAguiar Rosa, SAgapito, AAntónio, Mde Sousa, LOliveira, JALaranjo, SMartins, SJalles Tavares, NPinto, MFCruz Ferreira, R2019-11-11T16:34:52Z20182018-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/3351engRev Port Cardiol. 2018 Dec;37(12):1007.e1-1007.e5.10.1016/j.repc.2017.06.025info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-03-10T09:42:32Zoai:repositorio.chlc.min-saude.pt:10400.17/3351Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:20:40.044555Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Uhl's Disease: an Uncommon Presentation of a Rare Disease |
title |
Uhl's Disease: an Uncommon Presentation of a Rare Disease |
spellingShingle |
Uhl's Disease: an Uncommon Presentation of a Rare Disease Aguiar Rosa, S Adult Cardiomegaly Cyanosis Echocardiography Humans Hypertension, Pulmonary Magnetic Resonance Imaging Male Cardiomyopathy, Dilated Heart Defects, Congenital HSM CAR HSM CAR PED |
title_short |
Uhl's Disease: an Uncommon Presentation of a Rare Disease |
title_full |
Uhl's Disease: an Uncommon Presentation of a Rare Disease |
title_fullStr |
Uhl's Disease: an Uncommon Presentation of a Rare Disease |
title_full_unstemmed |
Uhl's Disease: an Uncommon Presentation of a Rare Disease |
title_sort |
Uhl's Disease: an Uncommon Presentation of a Rare Disease |
author |
Aguiar Rosa, S |
author_facet |
Aguiar Rosa, S Agapito, A António, M de Sousa, L Oliveira, JA Laranjo, S Martins, S Jalles Tavares, N Pinto, MF Cruz Ferreira, R |
author_role |
author |
author2 |
Agapito, A António, M de Sousa, L Oliveira, JA Laranjo, S Martins, S Jalles Tavares, N Pinto, MF Cruz Ferreira, R |
author2_role |
author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE |
dc.contributor.author.fl_str_mv |
Aguiar Rosa, S Agapito, A António, M de Sousa, L Oliveira, JA Laranjo, S Martins, S Jalles Tavares, N Pinto, MF Cruz Ferreira, R |
dc.subject.por.fl_str_mv |
Adult Cardiomegaly Cyanosis Echocardiography Humans Hypertension, Pulmonary Magnetic Resonance Imaging Male Cardiomyopathy, Dilated Heart Defects, Congenital HSM CAR HSM CAR PED |
topic |
Adult Cardiomegaly Cyanosis Echocardiography Humans Hypertension, Pulmonary Magnetic Resonance Imaging Male Cardiomyopathy, Dilated Heart Defects, Congenital HSM CAR HSM CAR PED |
description |
Uhl's disease, also known as Uhl anomaly, is a rare disease secondary to selective but uncontrolled apoptosis of right ventricular myocytes during the perinatal period, after complete cardiac development, leading to the absence of right ventricular myocardium and the direct apposition of endocardium to epicardium without a myocardial layer in between, resulting in right ventricular failure. The present paper describes a case of Uhl's disease with an uncommon presentation. A 28-year-old man was admitted with dyspnea and cyanosis. Transthoracic echocardiography showed severe dilation of the right chambers, impaired right ventricular systolic function and a large ostium secundum atrial septal defect (ASD). Cardiac catheterization revealed pulmonary hypertension, with increased pulmonary capillary wedge pressure (mean 19mmHg) and Qp:QS 0.88:1. At this point, the authors considered that a main diagnosis of ASD could not explain the clinical features and hemodynamic data. A primary disease of the right ventricle was the most likely hypothesis and cardiac magnetic resonance imaging was performed, which demonstrated an extremely thin-walled right ventricle, with almost complete absence of right ventricular free wall myocardium, compatible with Uhl's disease. |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018 2018-01-01T00:00:00Z 2019-11-11T16:34:52Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.17/3351 |
url |
http://hdl.handle.net/10400.17/3351 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Rev Port Cardiol. 2018 Dec;37(12):1007.e1-1007.e5. 10.1016/j.repc.2017.06.025 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Elsevier |
publisher.none.fl_str_mv |
Elsevier |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799131302680592384 |