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Uhl's Disease: an Uncommon Presentation of a Rare Disease

2018Journal article Open access
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dc.contributor.authorAguiar Rosa, S
dc.contributor.authorAgapito, A
dc.contributor.authorAntónio, M
dc.contributor.authorde Sousa, L
dc.contributor.authorOliveira, JA
dc.contributor.authorLaranjo, S
dc.contributor.authorMartins, S
dc.contributor.authorJalles Tavares, N
dc.contributor.authorPinto, MF
dc.contributor.authorCruz Ferreira, R
dc.date.accessioned2019-11-11T16:34:52Z
dc.date.available2019-11-11T16:34:52Z
dc.date.issued2018
dc.description.abstractUhl'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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationRev Port Cardiol. 2018 Dec;37(12):1007.e1-1007.e5.pt_PT
dc.identifier.doi10.1016/j.repc.2017.06.025pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/3351
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.subjectAdultpt_PT
dc.subjectCardiomegalypt_PT
dc.subjectCyanosispt_PT
dc.subjectEchocardiographypt_PT
dc.subjectHumanspt_PT
dc.subjectHypertension, Pulmonarypt_PT
dc.subjectMagnetic Resonance Imagingpt_PT
dc.subjectMalept_PT
dc.subjectCardiomyopathy, Dilatedpt_PT
dc.subjectHeart Defects, Congenitalpt_PT
dc.subjectHSM CARpt_PT
dc.subjectHSM CAR PEDpt_PT
dc.titleUhl's Disease: an Uncommon Presentation of a Rare Diseasept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage1007.e5pt_PT
oaire.citation.issue12pt_PT
oaire.citation.startPage1007.e1pt_PT
oaire.citation.titleRevista Portuguesa de Cardiologiapt_PT
oaire.citation.volume37pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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