43 results on '"Rui Anjos"'
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2. Gene-Edited Human-Induced Pluripotent Stem Cell Lines to Elucidate DAND5 Function throughout Cardiac Differentiation
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José M. Inácio, Mafalda M. Nunes, Micael Almeida, Fernando Cristo, Rui Anjos, and José A. Belo
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DAND5 ,cardiomyocyte proliferation ,congenital heart disease ,disease modelling ,Cytology ,QH573-671 - Abstract
(1) Background: The contribution of gene-specific variants for congenital heart disease, one of the most common congenital disabilities, is still far from our complete understanding. Here, we applied a disease model using human-induced pluripotent stem cells (hiPSCs) to evaluate the function of DAND5 on human cardiomyocyte (CM) differentiation and proliferation. (2) Methods: Taking advantage of our DAND5 patient-derived iPSC line, we used CRISPR-Cas9 gene-editing to generate a set of isogenic hiPSCs (DAND5-corrected and DAND5 full-mutant). The hiPSCs were differentiated into CMs, and RT-qPCR and immunofluorescence profiled the expression of cardiac markers. Cardiomyocyte proliferation was analysed by flow cytometry. Furthermore, we used a multi-electrode array (MEA) to study the functional electrophysiology of DAND5 hiPSC-CMs. (3) Results: The results indicated that hiPSC-CM proliferation is affected by DAND5 levels. Cardiomyocytes derived from a DAND5 full-mutant hiPSC line are more proliferative when compared with gene-corrected hiPSC-CMs. Moreover, parallel cardiac differentiations showed a differential cardiac gene expression profile, with upregulated cardiac progenitor markers in DAND5-KO hiPSC-CMs. Microelectrode array (MEA) measurements demonstrated that DAND5-KO hiPSC-CMs showed prolonged field potential duration and increased spontaneous beating rates. In addition, conduction velocity is reduced in the monolayers of hiPSC-CMs with full-mutant genotype. (4) Conclusions: The absence of DAND5 sustains the proliferation of hiPSC-CMs, which alters their electrophysiological maturation properties. These results using DAND5 hiPSC-CMs consolidate the findings of the in vitro and in vivo mouse models, now in a translational perspective. Altogether, the data will help elucidate the molecular mechanism underlying this human heart disease and potentiates new therapies for treating adult CHD.
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- 2023
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3. Extracorporeal membrane oxygenation as a bridge to surgery in a neonate with total anomalous pulmonary venous return
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Mariana Lemos, Joana Borges, Francisco Abecasis, and Rui Anjos
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total anomalous pulmonary venous return ,extracorporeal life support ,neonatal intensive care ,Medicine ,Pediatrics ,RJ1-570 - Abstract
Total anomalous pulmonary venous return (TAPVR) is a life-threatening condition that requires emergency surgical correction. The diagnosis of TAPVR can be challenging, especially in non-tertiary centers lacking pediatric cardiology support. Extracorporeal membrane oxygenation (ECMO) has been used in some patients as a bridge to cardiac surgery or for postoperative support. We describe a term neonate with severe pulmonary hypertension who was placed on ECMO, which facilitated the diagnosis and subsequent surgical correction of obstructive TAPVR with excellent outcomes.
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- 2021
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4. Coronary artery bypass grafting in a child with Kawasaki disease
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Pedro Magro, Nuno Carvalho, Rui Anjos, and José Neves
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Doença de Kawasaki ,Enxerto de bypass de artéria coronária ,Aneurisma coronário ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Kawasaki disease (KD) with cardiac involvement can result in the development of coronary aneurysm, stenosis or thrombosis with significant cardiovascular implications. We report the case of a 23-month-old male with a late diagnosis of KD, in whom intravenous immunoglobulin treatment was not feasible. The patient's course was assessed by routine echocardiography. At the age of five years, angiographic assessment revealed an aneurysm of the anterior descending coronary artery measuring 17 mm×7 mm involving the first diagonal branch, 90% post-aneurysmal stenosis, and an aneurysm of the right coronary artery measuring 32 mm×6 mm. Due to the critical anatomy of the anterior descending artery the revascularization method of choice was coronary artery bypass surgery with an internal mammary artery graft, under cardiopulmonary bypass. There were no significant intraoperative or postoperative complications. This confirms coronary artery bypass grafting as a reliable treatment option for patients who present with coronary sequelae from KD, even at a very young age. Resumo: A doença de Kawasaki pode resultar no desenvolvimento de aneurisma, estenose e trombose coronária com importantes implicações cardiovasculares. Reportamos o caso de um doente do sexo masculino de 23 meses com o diagnóstico tardio de doença de Kawasaki, impossibilitando o tratamento atempado com imunoglobulina endovenosa. O doente foi seguido em ambulatório com controlo ecocardiográfico e angiográfico. Aos cinco anos de idade a coronariografia revelava: a) aneurisma da artéria descendente anterior com 17×7 mm, envolvendo a primeira diagonal; b) estenose de 90% pós-aneurismática: c) aneurisma da coronária direita com 32×6 mm. Tendo em consideração a anatomia crítica da lesão envolvendo a artéria descendente anterior, a estratégia de intervenção escolhida foi cirurgia de revascularização miocárdica com um enxerto de artéria mamária esquerda in situ, sob circulação extracorporal. O procedimento decorreu sem intercorrências intra ou pós-operatórias de relevo. A cirurgia de revascularização miocárdica apresenta-se como uma opção viável na presença de sequelas coronárias de doença de Kawasaki, mesmo em doentes muito jovens.
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- 2021
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5. Generation and characterization of a human iPS cell line from a patient-related control to study disease mechanisms associated with DAND5 p.R152H alteration
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Selin Pars, Fernando Cristo, José M. Inácio, Graça Rosas, Isabel Marques Carreira, Joana Barbosa Melo, Patrícia Mendes, Duarte Saraiva Martins, Luís Pereira de Almeida, José Maio, Rui Anjos, and José A. Belo
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Biology (General) ,QH301-705.5 - Abstract
A DAND5-control human iPSC line was generated from the urinary cells of a phenotypically normal donor. Exfoliated renal epithelial (RE) cells were collected and reprogrammed into iPSCs using Sendai virus reprogramming system. The pluripotency, in vitro differentiation potential, karyotype stability, and the transgene-free status of generated iPSC line were analyzed and confirmed. This cell line can be exploited as a control iPSC line to better understand the mechanisms involved in DAND5-associated cardiac disease.
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- 2018
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6. Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration
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Fernando Cristo, José M. Inácio, Graça Rosas, Isabel Marques Carreira, Joana Barbosa Melo, Luís Pereira de Almeida, Patrícia Mendes, Duarte Saraiva Martins, José Maio, Rui Anjos, and José A. Belo
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Biology (General) ,QH301-705.5 - Abstract
A human iPSC line was generated from exfoliated renal epithelial (ERE) cells of a patient affected with Congenital Heart Disease (CHD) and Laterality Defects carrying tshe variant p.R152H in the DAND5 gene. The transgene-free iPSCs were generated with the human OSKM transcription factor using the Sendai-virus reprogramming system. The established iPSC line had the specific heterozygous alteration, a stable karyotype, expressed pluripotency markers and generated embryoid bodies that can differentiate towards the three germ layers in vitro. This iPSC line offers a useful resource to study the molecular mechanisms of cardiomyocyte proliferation, as well as for drug testing.
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- 2017
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7. Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects
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Fernando Cristo, José M. Inácio, Salomé de Almeida, Patrícia Mendes, Duarte Saraiva Martins, José Maio, Rui Anjos, and José A. Belo
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DAND5 ,Congenital Heart Diseases ,laterality defects ,Nodal signaling ,allelic variation ,Internal medicine ,RC31-1245 ,Genetics ,QH426-470 - Abstract
Abstract Background Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of isolated cases of CHDs or cases of laterality defects with associated CHDs is linked with variants of genes involved in the Nodal signaling pathway. Methods With this in mind, we analyzed a cohort of 38 unrelated patients with Congenital Heart Defects that can arise from initial perturbations in the formation of the Left-Right axis and 40 unrelated ethnically matched healthy individuals as a control population. Genomic DNA was extracted from buccal epithelial cells, and variants screening was performed by PCR and direct sequencing. A Nodal-dependent luciferase assay was conducted in order to determine the functional effect of the variant found. Results In this work, we report two patients with a DAND5 heterozygous non-synonymous variant (c.455G > A) in the functional domain of the DAND5 protein (p.R152H), a master regulator of Nodal signaling. Patient 1 presents left isomerism, ventricular septal defect with overriding aorta and pulmonary atresia, while patient 2 presents ventricular septal defect with overriding aorta, right ventricular hypertrophy and pulmonary atresia (a case of extreme tetralogy of Fallot phenotype). The functional analysis assay showed a significant decrease in the activity of this variant protein when compared to its wild-type counterpart. Conclusion Altogether, our results provide new insight into the molecular mechanism of the laterality defects and related CHDs, priming for the first time DAND5 as one of multiple candidate determinants for CHDs in humans.
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- 2017
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8. Cardiopatia Congénita em Crianças com Síndrome de Down: O que Mudou nas Últimas Três Décadas?
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Filipa Mestre A. Dias, Susana Cordeiro, Isabel Menezes, Graça Nogueira, Ana Teixeira, Marta Marques, Miguel Abecasis, and Rui Anjos
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Cardiopatias Congénitas ,Procedimentos Cirúrgicos Cardíacos ,Resultado do Tratamento ,Síndrome de Down. ,Medicine ,Medicine (General) ,R5-920 - Abstract
Introdução: A prevalência da síndrome de Down tem aumentado nos últimos 30 anos; 55% destas crianças apresentam cardiopatia congénita. Material e Métodos: Estudo retrospetivo longitudinal de coorte; dados clínicos obtidos em bases de dados de 1982 a 2013 com o diagnóstico de síndrome de Down ou trissomia 21 num hospital de referência em cardiologia pediátrica e cirurgia cardíaca. Objetivo: Avaliar a evolução, nas últimas três décadas, dos cuidados cardiológicos prestados às crianças com síndrome de Down e cardiopatia congénita. Resultados: Estudámos 102 doentes com síndrome de Down e cardiopatia congénita submetidos a terapêutica invasiva: cirurgia cardíaca corretiva, paliativa e cateterismo terapêutico. Em doentes referenciados no primeiro ano de vida, a referenciação foi cada vez mais precoce. O diagnóstico mais frequente foi o defeito completo do septo aurículo-ventricular (41%). Verificou-se uma tendência para cirurgia corretiva cada vez mais precoce em doentes abaixo dos 12 meses (p < 0,001). A partir de 2000, a grande maioria dos doentes foi operada antes dos seis meses de idade. As principais complicações cardíacas foram alterações de ritmo e baixo débito e as principais não cardíacas foram pulmonares e infeciosas. A taxa de mortalidade a 30 dias foi de 3/102 casos (2,9%). Dos doentes em follow-up, 89% estão em classe funcional I da NYHA. Discussão e Conclusão: A correção cirúrgica mais precoce verificada nos últimos 15 anos vai ao encontro do proposto na literatura. A taxa de mortalidade a 30 dias verificada é sobreponível aos resultados internacionais. Os doentes com síndrome de Down submetidos a cirurgia corretiva de cardiopatia congénita apresentam uma excelente capacidade funcional a longo prazo.
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- 2016
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9. Assistência ventricular esquerda numa criança de 5 anos – ponte para recuperação num caso de miocardite viral
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Margarida Silva, Nuno Carvalho, Graça Nogueira, Patrícia Costa, Rui Rodrigues, Miguel Abecasis, Manuela Nunes, Rui Anjos, and José Neves
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Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Resumo: Introdução: A miocardite viral pode cursar com insuficiência cardíaca refratária à medicação. Nestes casos, a assistência ventricular externa é uma alternativa que pode ser usada como ponte para transplante ou para recuperação. Descrevemos o primeiro caso em Portugal de recuperação da função ventricular após assistência ventricular por miocardite grave. Caso clínico: Apresentamos o caso de uma criança de 5 anos, sexo masculino, sem doença cardíaca prévia, com miocardite viral grave, insuficiência cardíaca refratária à medicação e serologias positivas para Parvovírus B19 e vírus Ebstein-Barr. Foi implantado o Berlin Heart Excor® 15 dias após o diagnóstico. A biopsia cardíaca, na altura da implantação, mostrava áreas de fibrose subendocárdica. Verificou-se recuperação da função miocárdica, tendo sido retirada a assistência ventricular após 40 dias da implantação. O doente teve alta 15 dias depois. Discussão: A sobrevida das crianças em assistência ventricular tem vindo a melhorar significativamente, devido ao planeamento atempado e à otimização da anticoagulação. A presença de fibrose subendocárdica no contexto de miocardite não constitui uma indicação formal para transplante. Abstract: Introduction: Viral myocarditis can lead to heart failure that is refractory to medication. In these cases, a ventricular assist device is a good therapeutic option that can be used as a bridge to transplantation or recovery. We describe the first case in Portugal of recovery with ventricular assistance after severe myocarditis. Case report: A five-year-old boy with no previous cardiac disease presented with severe viral myocarditis, refractory to medical treatment, with positive serology for parvovirus B19 and Ebstein-Barr virus. A Berlin Heart Excor® was implanted 15 days after diagnosis. A biopsy at the time of implantation showed subendocardial fibrosis. After 40 days of assistance ventricular function recovered and the device was explanted. The patient was discharged from hospital 15 days later. Discussion: Survival of children with ventricular assistance has improved significantly because of earlier implantation and coagulation monitoring. The presence of subendocardial fibrosis in the context of myocarditis is not a mandatory indication for transplantation. Palavras-chave: Assistência ventricular externa, Berlin Heart Excor®, Insuficiência cardíaca, Miocardite viral, Keywords: Assisted circulation, Circulatory assist devices, Heart failure, Viral myocarditis
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- 2012
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10. Cirurgia de revascularização coronária após doença de Kawasaki
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Vera Santos, Ana Sofia Simões, Ana Teixeira, Miguel Abecasis, Marília Loureiro, and Rui Anjos
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Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Resumo: A doença de Kawasaki (DK) é uma vasculite sistémica, de etiologia desconhecida, constituindo a principal causa de cardiopatia adquirida em idade pediátrica em países desenvolvidos. As principais complicações resultam do aparecimento de aneurismas coronários que podem evoluir para doença coronária isquémica.Apresenta-se o caso clínico de um adolescente com diagnóstico de DK aos 7 anos. Efetuou terapêutica com imunoglobulina e ácido acetilsalicílico e a avaliação ecocardiográfica na fase aguda foi aparentemente normal. Aos 11 anos de idade desenvolveu quadro de angor e dispneia de esforço. A cintigrafia de perfusão miocárdica com prova de esforço revelou hipoperfusão dos territórios correspondentes às artérias descendente anterior esquerda (DA) e coronária direita (CD). O cateterismo cardíaco demonstrou oclusão dos segmentos proximais de ambas as artérias. Foi submetido a cirurgia de revascularização coronária (artéria mamária interna para a DA e veia safena interna para a CD) com boa evolução clínica e desaparecimento das alterações isquémicas na cintigrafia.Este caso clínico vem alertar para a importância do diagnóstico e terapêutica atempados e seguimento posterior na DK, salientando-se a potencial gravidade das complicações cardiovasculares a longo prazo desta doença pediátrica. Abstract: Kawasaki disease (KD) is a systemic vasculitis of unknown etiology, which is the main cause of acquired heart disease in children in developed countries. The main complications result from the development of coronary aneurysms which can lead to ischemic heart disease.We present the case of a teenage boy with a diagnosis of KD at the age of seven. He was treated with gammaglobulin and aspirin and echocardiographic evaluation in the acute phase was apparently normal. At the age of eleven, he developed chest pain and exertional dyspnea. Nuclear perfusion scans with exercise revealed hypoperfusion of the left anterior descending (LAD) and right coronary (RC) artery territories. Cardiac catheterization showed occlusion of the proximal segments of both arteries. He underwent coronary artery bypass graft surgery (internal mammary artery bypass graft to the LAD artery and saphenous vein graft to the RC artery), with a good clinical result.This case report highlights the importance of early diagnosis and treatment of KD and regular cardiological follow-up, bearing in mind the potential late complications of this pediatric disease. Palavras-chave: Doença de Kawasaki, Aneurismas coronários, Cirurgia de revascularização coronária, Keywords: Kawasaki disease, Coronary aneurysm, Coronary artery bypass
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- 2012
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11. Terapêutica de ressincronização na miocardiopatia induzida pelo pacing ventricular direito em doente pediátrico
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Pedro Carmo, Graça Nogueira, Rui Anjos, Pedro Adragão, Diogo Cavaco, Regina Ribeiras, José Pedro Neves, and Maymone Martins
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Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Resumo: Um recém-nascido do sexo masculino apresenta bloqueio aurículo-ventricular completo pelo que foi implantado um pacemaker VVI ao 2.° dia de vida.Três anos depois o doente desenvolve disfunção ventricular esquerda, regurgitação mitral grave e insuficiência cardíaca progressiva apesar da terapêutica médica otimizada. Nesse contexto efetuamos terapêutica de ressincronização (CRT). Este é o primeiro relato português de implantação de CRT em idade pediátrica.Um ano após a implantação o ecocardiogrma mostra melhoria da fração de ejeção, redução do diâmetro telediastólico do ventrículo esquerdo e redução muito significativa da regurgitação mitral. A classe funcional de New York Heart Association melhorou de III-IV para I. Abstract: A 2-day-old male infant required a conventional VVI pacemaker for congenital atrioventricular block.Three years later, he developed progressive heart failure due to left ventricular (LV) dysfunction and mitral regurgitation despite optimized medical treatment, and a cardiac resynchronization therapy (CRT) device was implanted. This is the first Portuguese report of CRT in a pediatric patient.One-year echocardiographic follow-up showed that LV shortening fraction had improved and LV end-diastolic dimension and mitral regurgitation had decreased. New York Heart Association class had improved from III-IV to I at 1-year follow-up. Palavras-chave: Terapêutica de ressincronização cardíaca (CRT), Cardiomiopatia induzida pelo pacing direito, Remodelagem reversa, Keywords: Cardiac resynchronization therapy, Cardiomyopathy after right ventricular pacing, Reverse remodeling
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- 2012
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12. Fetal giant cardiac tumor
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Inês C. Mendes, Ana Rita Araújo, Rui Anjos, and Ana Teixeira
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Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Published
- 2017
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13. The role of three-dimensional transesophageal echocardiography in percutaneous closure of atrial septal defects associated with aneurysm of the atrial septum
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Cátia Costa, Rui Anjos, Duarte Martins, and Manuel Canada
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Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Published
- 2017
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14. Embolização percutânea de fístulas coronárias – Experiência de um centro
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Margarida Silva, Nuno Carvalho, Ana Teixeira, Graça Nogueira, Isabel Menezes, Rui Ferreira, Fernando Maymone-Martins, and Rui Anjos
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Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Resumo: Introdução: Uma fístula coronária é uma conexão entre uma artéria coronária e uma cavidade cardíaca ou grande vaso. É um defeito raro e que geralmente ocorre de forma isolada. Apesar de a ecocardiografia bidimensional ter um papel importante no diagnóstico, a angiotomografia computorizada ou a angiografia coronária são importantes para a delineação da anatomia. A cirurgia é o tratamento tradicional, mas o encerramento percutâneo é actualmente o método recomendado, com excelentes resultados e baixa morbilidade em grupos com experiência em embolização terapêutica. População e métodos: Descrevemos a experiência do nosso centro no tratamento percutâneo de 15 fístulas coronárias em 12 doentes entre 1996 e 2011. Oito (67%) eram do sexo masculino. A idade mediana foi de 25 anos. Os motivos de referência mais frequentes foram sopro e/ou cansaço. Todas as fístulas eram de origem congénita. Cinco doentes (42%) tinham patologia cardíaca concomitante: atrésia da pulmonar com septo interventricular intacto (1), canal arterial persistente (1), comunicação interauricular ostium secundum (1), estenose aórtica em válvula aórtica biscúspide (1), estenose pulmonar crítica operada no período neonatal (1). Três doentes tinham duas fístulas coronárias e nos restantes a lesão era única. As fístulas eram hemodinamicamente significativas, com origem no território da coronária direita (n = 10), da coronária esquerda (n = 3) e da circunflexa (n = 2) e drenavam para o ventrículo direito (n = 5), artéria pulmonar (n = 6), aurícula direita (n = 2), seio coronário (n = 1) e ventrículo esquerdo (n = 1). O material de embolização incluiu coils standard, coils de libertação controlada, microcoils (simples, GDC ou IDC) e um dispositivo Amplatzer® Duct Occluder. Resultados: A embolização da fístula foi obtida em todos os doentes. Não houve mortalidade. Ocorreu enfarte do ventrículo direito num doente com fístula de grandes dimensões e coronária direita de diâmetro muito reduzido distalmente à emergência da fístula. Em três casos ocorreram complicações minor: embolização inadvertida de coil, recuperado no mesmo procedimento (1), arritmia transitória (1) e pseudo-aneurisma femoral (1).Num seguimento médio de 4,9 anos (um mês a 14 anos) não se registaram intercorrências relacionadas com o procedimento. O controlo por ecocardiograma e/ou angiografia coronária mostrou que em dez doentes ocorreu oclusão eficaz e permanente das fístulas, enquanto que dois doentes mantiveram fluxo residual mínimo, por pequenos vasos acessórios, sem repercussão hemodinâmica. Conclusão: As embolizações terapêuticas representam uma forma eficaz de abordagem de fístulas coronárias seleccionadas. Estas anomalias têm características muito variáveis, pelo que é necessário dispor de um grande leque de dispositivos para seleccionar a opção mais eficaz. Abstract: Introduction: A coronary fistula is a connection between one of the coronary arteries and a cardiac chamber or great artery. It is a rare defect and usually occurs in isolation. Two-dimensional echocardiography has an important role in diagnosis but coronary or CT angiography is essential to delineate the anatomy. Surgery is the traditional therapeutic approach but percutaneous closure is now the recommended method, with excellent results and few complications in experienced centers. Methods: We describe our experience with percutaneous treatment of 15 coronary fistulas in 12 patients between 1996 and 2011. Eight (67%) were male and median age was 25 years. The most frequent symptoms were murmur and/or fatigue. All fistulas were congenital. Five patients (42%) had concomitant cardiac disease: pulmonary atresia with intact ventricular septum (1), patent ductus arteriosus (1), ostium secundum atrial septal defect (1), stenotic bicuspid aortic valve (1), and critical pulmonary stenosis operated in the neonatal period (1). Three patients had two fistulas, while the others had a single lesion. All fistulas were hemodynamically significant. They originated in the territory of the right coronary (10), left coronary (3) and circumflex (2), draining into the right ventricle (5), pulmonary artery (6), right atrium (2) coronary sinus (1) and left ventricle (1). Embolization materials included standard coils, controlled-release coils, microcoils (standard, GDC or IDC) and an Amplatzer® duct occluder. Results: Embolization was achieved in all patients. There was no mortality. One patient with a large fistula and a very small right coronary artery distally to the origin of the fistula had a right ventricular infarction. In three patients there were minor complications: inadvertent coil embolization, recovered in the same procedure (1), transient arrhythmia (1) and femoral pseudo-aneurysm (1). In a mean follow-up of 4.9 years (one month to 14 years), there were no procedure-related complications. Echocardiographic and/or angiographic control showed complete and permanent occlusion in ten patients and minimal residual flow in two patients through small collaterals with no hemodynamic significance. Conclusion: Percutaneous embolization represents an effective form of treatment for selected coronary fistulas. A wide range of embolization devices must be available to ensure the best therapeutic approach. Palavras-chave: Fístulas coronárias, Embolização, Intervenção percutânea, Keywords: Coronary fistulas, Embolization, Percutaneous intervention
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- 2011
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15. Dyspnea in a nonagenarian: The usual suspects, an unexpected culprit
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Sérgio Madeira, Luís Raposo, Raquel David, Alexandre Marques, José Andrade Gomes, Nuno Cardim, and Rui Anjos
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Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Platypnea-orthodeoxia syndrome (POS) is an uncommon syndrome characterized by dyspnea and hypoxemia triggered by orthostatism and relieved by recumbency. It is often associated with an interatrial shunt through a patent foramen ovale (PFO). We report the case of a 92-year-old woman initially admitted in the setting of a traumatic femoral neck fracture (successfully treated with hip replacement surgery) in whom a reversible decline in transcutaneous oxygen saturation from 98% (in the supine position) to 84% (in the upright position) was noted early post-operatively. Thoracic multislice computed tomography excluded pulmonary embolism and severe parenchymal lung disease. The diagnosis of POS was confirmed by tilt-table contrast transesophageal echocardiography, which demonstrated a dynamic and position-dependent right-to-left shunt (torrential when semi-upright and minimal in the supine position) through a PFO. The patient underwent percutaneous closure of the PFO with an Amplatzer device, which led to prompt symptom relief and full functional recovery. Resumo: A síndrome platipneia-ortodeoxia (SPO) é uma entidade rara caracterizada por dispneia e hipoxemia desencadeadas pelo ortostatismo e aliviadas pelo decúbito. Está frequentemente associada à presença de um shunt inter-auricular através de um foramen ovale patente (FOP). Relata-se o caso de uma mulher de 92 anos, internada inicialmente por fratura traumática do colo do fémur. Foi submetida a artroplastia da anca sem complicações. No período pós operatório inicial observou-se um declínio reversível da saturação de oxigênio de 98% em decúbito dorsal para 84% na posição ortostática. A angio-tomografia computorizada do tórax excluiu trombo-embolia pulmonar e doença grave do parênquima pulmonar. O diagnóstico de SPO foi confirmado por ecocardiografia transesofágica contrastada (soro agitado) com inclinação na mesa de tilt, que demonstrou um shunt direito-esquerdo dinâmico e posicional (torrencial a 45° e mínimo a 0°) através de um FOP. A doente foi submetida a encerramento percutâneo do FOP com dispositivo Amplatzer, que proporcionou alívio sintomático imediato e permitiu uma recuperação funcional total. Keywords: Platypnea-orthodeoxia syndrome, Tilt table, Transesophageal echocardiography, Percutaneous closure, Patent foramen ovale, Palavras-chave: Síndrome platipneia-ortodeoxia, Inclinação dinâmica, Ecocardiografia transesofágica, Encerramento percutâneo, Foramen ovale patente
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- 2015
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16. Natural history of Brugada syndrome in a patient with congenital heart disease
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Doroteia Silva, Fernando Maymone Martins, Diogo Cavaco, Pedro Adragão, Margarida Matos Silva, Rui Anjos, Álvaro Ferreira, and Isabel Mendes Gaspar
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Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Risk stratification of sudden death in patients with Brugada syndrome (BrS) is a controversial issue, and there is currently no consensus on the best method. Examination of data from the natural history of the disease is of fundamental importance and may help to identify relatives at risk. At the same time, study of the genetic mutations responsible for the disease may also contribute to risk stratification of the syndrome, enabling identification of asymptomatic relatives carrying mutations.This paper presents the case of a young man, aged 26, monitored as a pediatric cardiology outpatient from birth for a simple structural heart defect not requiring surgery. Analysis of the evolution of the patient's electrocardiogram revealed the appearance, at the age of 20, of a pattern compatible with type I BrS. Following an episode of syncope and induction of polymorphic ventricular tachycardia in the electrophysiological study, a cardioverter-defibrillator was implanted. One year later, a single shock terminated an episode of ventricular fibrillation. A molecular study of the SCN5A gene identified a rare mutation, c.3622G>T (p.Glu1208X), recently described and associated with more severe phenotypes in patients with BrS, as in the case presented. Resumo: A estratificação do risco de morte súbita nos doentes com síndrome de Brugada (SB) é um assunto controverso, não existindo atualmente consenso sobre a forma ideal de o fazer. O estudo da história natural da doença é fundamental e pode ajudar a identificar os familiares em risco. Por outro lado, o estudo das mutações genéticas responsáveis pela síndrome pode contribuir para a estratificação do risco, identificando os familiares assintomáticos portadores de mutação.Este artigo apresenta o caso de um jovem de 26 anos de idade, seguido na consulta de Cardiologia Pediátrica desde o nascimento por um defeito cardíaco estrutural simples, que resolveu espontaneamente. A análise evolucionária do eletrocardiograma do doente documentou o aparecimento, aos 20 anos de idade, de um padrão compatível com SB de tipo 1. Após um episódio de síncope e indução de taquicardia ventricular polimórfica no estudo electrofisiológico, foi implantado um cardioversor-desfibrilador. Um ano depois, um episódio de fibrilhação ventricular foi terminado por um choque único. O estudo molecular do gene SCN5A identificou uma mutação rara [c.3622G>(p.Glu1208X)], recentemente descrita e associada a fenótipos mais graves nos doentes com SB, tal como no caso por nós apresentado. Keywords: Brugada syndrome, Electrocardiogram, SCN5A mutation, Sudden cardiac death, Palavras-chave: Síndrome de Brugada, Eletrocardiograma, Mutação SCN5A, Morte súbita
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- 2015
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17. Cardiopatias Congénitas Complexas: Influência do Diagnóstico Pré-Natal
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Marta Correia, Fabiana Fortunato, Duarte Martins, Ana Teixeira, Graça Nogueira, Isabel Menezes, and Rui Anjos
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Cardiopatias Congénitas ,Diagnóstico Pré-natal. ,Medicine ,Medicine (General) ,R5-920 - Abstract
Introdução: As cardiopatias congénitas complexas são patologias graves, e o diagnóstico pré-natal poderá ter implicações sobre a morbilidade e a mortalidade. O objetivo deste trabalho foi estudar a influência do diagnóstico pré-natal e da distância do local de parto a um centro de referência, na morbilidade imediata e mortalidade precoce de um grupo de doentes com cardiopatias congénitas complexas. Material e Métodos: Análise retrospetiva dos doentes com cardiopatias congénitas complexas, seguidos no nosso hospital, nascidos entre 2007 e 2012. Resultados: Identificaram-se 126 doentes com cardiopatias congénitas complexas. Em 95% a gravidez foi vigiada desde o primeiro trimestre existindo diagnóstico pré-natal em 42%. Houve relação estatisticamente significativa entre o local do parto e a existência de diagnóstico pré-natal. A cardiopatia congénita complexa mais frequente foi a transposição das grandes artérias (45,2%), seguida da atresia da pulmonar com comunicação interventricular (17,5%) e ventrículo esquerdo hipoplásico (9,5%). Oitenta e dois doentes (65,1%) foram medicados com prostaglandinas e 38 (30,2%) foram ventilados antes de uma intervenção. A cirurgia ocorreu no período neonatal em 73%. A sobrevida atuarial aos 30 dias, 12 e 24 meses foi 85%, 80% e 75%, respetivamente. Não houve relação estatisticamente significativa entre diagnóstico pré-natal e mortalidade. Discussão: A maioria dos doentes com cardiopatias congénitas complexas não teve diagnóstico pré-natal. Nos casos com diagnóstico pré-natal houve referenciação e parto num centro terciário. Não houve associação estatisticamente significativa entre diagnóstico prénatal e mortalidade neonatal, como já descrito em séries heterogéneas de cardiopatia congénita complexa. Conclusão: A maioria dos doentes com cardiopatias congénitas complexas não teve diagnóstico pré-natal. Estes dados devem ser tomados em conta no planeamento do diagnóstico pré-natal das cardiopatias congénitas.
- Published
- 2015
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18. Pseudo-pulmonary Embolism – A Case of Hypoxemia Associated with Right-to-left Shunt
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Mariana Faustino, Ana Oliveira Soares, Fernando Rodrigues, Rui Anjos, António Freitas, and Victor M. Gil
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Dispneia ,Ecocardiografia Transesofagiana ,Comunicação Interatrial ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Published
- 2015
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19. Constrictive Pericarditis: A Challenging Diagnosis in Paediatrics
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Mariana Faustino, Inês Carmo Mendes, and Rui Anjos
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Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Constrictive pericarditis is an uncommon disease in children, usually difficult to diagnose. We present the case of a 14-year-old boy with a previous history of tuberculosis and right heart failure, in whom constrictive pericarditis was diagnosed. The case highlights the need to integrate all information, including clinical data, noninvasive cardiac imaging, and even invasive hemodynamic evaluation when required, in order to establish the correct diagnosis and proceed to surgical treatment.
- Published
- 2015
- Full Text
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20. Prosthetic mitral valve thrombosis in pregnancy: From thrombolysis to anticoagulation
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Gonçalo Cardoso, Carlos Aguiar, Maria João Andrade, Lino Patrício, Isabel Freire, Fátima Serrano, Rui Anjos, and Miguel Mendes
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Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Introduction: Pregnant women with mechanical prosthetic heart valves are at increased risk for valve thrombosis. Management decisions for this life-threatening complication are complex. Open-heart surgery has a very high risk of maternal mortality and fetal loss. Bleeding and embolic risks associated with thrombolytic agents, the limited efficacy of thrombolysis in certain subgroups, and a lack of experience in the setting of pregnancy raise important concerns. Case report: We report a case of mitral prosthetic valve thrombosis in early pregnancy, which was successfully treated with streptokinase. Ten years later, the same patient had an uneventful pregnancy, throughout which acenocoumarol was maintained. Conclusion: With this case we review the prevention (with oral anticoagulant therapy) and treatment of prosthetic valve thrombosis during pregnancy, which is important for both obstetrician and cardiologist. Resumo: Introdução: Uma doente grávida com uma prótese mitral mecânica tem risco aumentado de trombose de prótese. Esta complicação potencialmente fatal obriga a decisões terapêuticas complexas. A cirurgia cardíaca tem um risco muito elevado de mortalidade materna e fetal. Os riscos hemorrágico e embólico associados aos agentes trombolíticos, a eficácia limitada da trombólise em alguns subgrupos de doentes e a falta de experiência existente no contexto de gravidez são uma forte preocupação. Caso clínico: Os autores descrevem um caso de uma doente com trombose de prótese mitral no primeiro trimestre de gravidez, tratada com sucesso com estreptoquinase. Dez anos mais tarde, a mesma doente tem uma gravidez não complicada sob tratamento com acenocumarol. Conclusão: Este caso permite uma revisão da prevenção (anticoagulação) e do tratamento de trombose de prótese durante a gravidez. Keywords: Valve thrombosis, Thrombolysis, Anticoagulation, Pregnancy, Palavras-chave: Trombose de prótese, Trombólise, Anticoagulação, Gravidez
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- 2015
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21. Severe left ventricular outflow tract obstruction
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Ana Rita Araújo Silva, Inês Carmo Mendes, Susana Cordeiro, and Rui Anjos
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Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Published
- 2016
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22. Hemangioma Hepático Infantil Gigante: Que Opções Terapêuticas?
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Cristina Gonçalves, Luisa Lobo, Rui Anjos, Carlos Salgueiro, and Ana Isabel Lopes
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Medicine ,Medicine (General) ,R5-920 - Abstract
Os hemangiomas hepáticos infantis constituem o terceiro tumor hepático mais frequente na criança e o mais frequente antes dos seis meses. As opções terapêuticas são determinadas pela apresentação clínica, devendo ser individualizadas. Apresenta-se o caso de uma criança actualmente com quatro anos de idade, com diagnóstico neonatal de volumosa malformação hepática vascularizada, com critérios imagiológicos compatíveis com hemangioma hepático infantil. Destaca-se a ocorrência inicial de Síndrome de Kasabach-Merrit (trombocitopenia, anemia) e insuficiência cardíaca que resolveram espontaneamente. Ao longo do período de seguimento, o estudo imagiológico evolutivo (ecografia, doppler ressonância magnética e tomografia computorizada com administração de contraste endovenoso) confirmou a hipótese de HHI ao permitir o mapeamento vascular detalhado. A partir do primeiro ano de vida, constatou-se evolução favorável com redução progressiva da massa. Embora se tenha mantido atitude conservadora, a melhor abordagem e intervenção nesta entidade, permanece controversa. Salientam-se as particularidades deste caso, discutindo a abordagem com melhor relação custo-benefício.
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- 2013
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23. Duplo arco aórtico na origem de estridor persistente: sequência de imagens para orientação cirúrgica
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Bruno Sanches, Duarte Rebelo, Sara Brito, Rui Anjos, Luísa Lobo, Teresa Bandeira, and Ana Saianda
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Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Published
- 2015
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24. Disfunção ventricular grave mas reversível no lactente
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Ana Rita Araújo, Inês Carmo Mendes, Pedro Magro, Ana Teixeira, José Pedro Neves, and Rui Anjos
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Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Published
- 2015
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25. Recuperação Pós-Operatória de Sangue em Doentes Submetidos a Artroplastias Totais do Joelho ou da Anca
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Hugo Laranjeira, Celeste Coimbra, Nuno Fernandes, Romeu Pinho, Rui Anjos, Elisabeth Mesquita, António Barros, Rita Ferreira, and Lúcia Borges
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Medicine ,Medicine (General) ,R5-920 - Abstract
Introdução: Na artroplastia total do joelho e na artroplastia total da anca ocorrem perdas de sangue consideráveis, sendo necessário recorrer frequentemente a transfusões de concentrado de eritrócitos. No entanto, para além dos potenciais riscos inerentes, o sangue homólogo é um recurso limitado e caro. No sentido de reduzir o recurso a transfusões homólogas, tem-se desenvolvido estratégias alternativas, como a recuperação pós-operatória de sangue. Objetivos: Avaliação da implementação da recuperação pós-operatória de sangue no consumo de concentrado de eritrócitos no período pós-operatório e no tempo de internamento, pela avaliação retrospetiva de doentes submetidos a artroplastia total do joelho ou a artroplastia total da anca. Material e Métodos: Os 976 doentes foram divididos em 2 grupos: CELL TRANS – doentes submetidos à intervenção após a implementação da recuperação pós-operatória de sangue e CONT – submetidos à intervenção antes da implementação da estratégia referida. O número de unidades de concentrado de eritrócitos administradas foi obtido pela análise das requisições ao Serviço de Imunohemoterapia e o tempo de internamento foi obtido através do Sistema de Apoio ao Médico. A análise estatística foi realizada com recurso à linguagem R, considerando-se diferenças significativas entre os grupos quando p < 0,05. Resultados: Após a introdução da recuperação pós-operatória de sangue, 29% dos doentes submetidos a artroplastia total do joelho e 38% dos doentes submetidos a artroplastia total da anca receberam concentrado de eritrócitos no período pós-operatório, um número consideravelmente menor ao observado antes da implementação da estratégia, 68% e 59% respetivamente. Concomitantemente, verificou-se uma redução estatisticamente significativa no tempo de internamento de 9,0 para 8,3 dias para o caso dos doentes submetidos a artroplastia total do joelho e de 9,1 para 8,8 dias para o caso dos doentes submetidos a artroplastia total da anca. Conclusões: A recuperação pós-operatória de sangue em doentes submetidos a artroplastia total do joelho ou a artroplastia total da anca reduz significativamente a necessidade de transfusão de concentrado de eritrócitos bem como o tempo de internamento.
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- 2013
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26. Tetralogia de Fallot com agenesia da válvula pulmonar
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Helena Rego, Teresa Jacinto, Ana Araújo, Ana Teixeira, Miguel Abecasis, and Rui Anjos
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Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Published
- 2014
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27. Pericardite como complicação de doença meningocócica.
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Ana P Simões, Rui Anjos, A Aidos, Ana S Neto, Fernando T Noronha, and José M Palminha
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Medicine ,Medicine (General) ,R5-920 - Abstract
We describe a case of a three year old male who presents with meningococcal meningitis. The initial evolution was unremarkable but subsequently he developed pericarditis. The pericardial fluid had features of exudate but it was sterile. The response to antibiotics and anti-inflammatory medication was excellent.
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- 2004
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28. Pericardite constritiva nos dois primeiros anos de vida.
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Lia Silva, Rui Anjos, Fernando Maymone Martins, and Margarida Telo
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Medicine ,Medicine (General) ,R5-920 - Abstract
Two cases of constrictive pericarditis, in children under 2 years of age, of non-tuberculosis aetiology, diagnosed from June 97 to May 98 are reported. This entity is rare in paediatrics and it may progress to severe condition. Surgical treatment has a low risk and is generally associated with good prognosis. Aetiology, clinic presentation, differential diagnosis with restrictive cardiomyopathy and treatment are discussed.
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- 2002
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29. Polymalformative syndrome with congenital heart defect
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Sara Pimentel Marcos, Teresa Castro, Anabela Salazar, and Rui Anjos
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Medicine - Full Text
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30. Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects
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Salomé de Almeida, Patrícia Mendes, José M. Inácio, Rui Anjos, José António Belo, Duarte Martins, José Maio, Fernando Cristo, NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), and Centro de Estudos de Doenças Crónicas (CEDOC)
- Subjects
Allelic variation ,0301 basic medicine ,Heart Septal Defects, Ventricular ,Male ,congenital heart malformation ,Heart disease ,030204 cardiovascular system & hematology ,0302 clinical medicine ,single nucleotide polymorphism ,genetics ,Nodal signaling pathway ,DAND5 protein, human ,pathophysiology ,Genetics (clinical) ,Tetralogy of Fallot ,Congenital Heart Diseases ,allelic variation ,laterality defects ,3. Good health ,female ,Phenotype ,genetic association study ,Cardiology ,Intercellular Signaling Peptides and Proteins ,Female ,Pulmonary atresia ,signal transduction ,Signal Transduction ,Research Article ,Heart Defects, Congenital ,medicine.medical_specialty ,lcsh:Internal medicine ,Genotype ,lcsh:QH426-470 ,phenotype ,Nodal Protein ,HDE GEN ,protein Nodal ,Single-nucleotide polymorphism ,Biology ,Polymorphism, Single Nucleotide ,Laterality defects ,03 medical and health sciences ,SDG 3 - Good Health and Well-being ,Right ventricular hypertrophy ,Internal medicine ,heart septum defect ,Genetics ,medicine ,Genetic predisposition ,Humans ,signal peptide ,Genetic Predisposition to Disease ,human ,lcsh:RC31-1245 ,Genetic Association Studies ,Nodal signaling ,medicine.disease ,lcsh:Genetics ,030104 developmental biology ,Endocrinology ,DAND5 ,Mutation ,Overriding aorta ,genetic predisposition ,NODAL protein, human - Abstract
Background Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of isolated cases of CHDs or cases of laterality defects with associated CHDs is linked with variants of genes involved in the Nodal signaling pathway. Methods With this in mind, we analyzed a cohort of 38 unrelated patients with Congenital Heart Defects that can arise from initial perturbations in the formation of the Left-Right axis and 40 unrelated ethnically matched healthy individuals as a control population. Genomic DNA was extracted from buccal epithelial cells, and variants screening was performed by PCR and direct sequencing. A Nodal-dependent luciferase assay was conducted in order to determine the functional effect of the variant found. Results In this work, we report two patients with a DAND5 heterozygous non-synonymous variant (c.455G > A) in the functional domain of the DAND5 protein (p.R152H), a master regulator of Nodal signaling. Patient 1 presents left isomerism, ventricular septal defect with overriding aorta and pulmonary atresia, while patient 2 presents ventricular septal defect with overriding aorta, right ventricular hypertrophy and pulmonary atresia (a case of extreme tetralogy of Fallot phenotype). The functional analysis assay showed a significant decrease in the activity of this variant protein when compared to its wild-type counterpart. Conclusion Altogether, our results provide new insight into the molecular mechanism of the laterality defects and related CHDs, priming for the first time DAND5 as one of multiple candidate determinants for CHDs in humans. Electronic supplementary material The online version of this article (doi:10.1186/s12881-017-0444-1) contains supplementary material, which is available to authorized users.
- Published
- 2017
31. Generation and characterization of a human iPS cell line from a patient-related control to study disease mechanisms associated with DAND5 p.R152H alteration
- Author
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Graça Rosas, Patrícia Mendes, Selin Pars, Rui Anjos, Joana B. Melo, Luís Pereira de Almeida, Isabel M. Carreira, José Maio, Fernando Cristo, Duarte Martins, José António Belo, José M. Inácio, NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), and Centro de Estudos de Doenças Crónicas (CEDOC)
- Subjects
Male ,0301 basic medicine ,Heart Diseases ,Induced Pluripotent Stem Cells ,Cell Line ,03 medical and health sciences ,SDG 3 - Good Health and Well-being ,Humans ,Cellular Reprogramming Techniques ,Induced pluripotent stem cell ,lcsh:QH301-705.5 ,biology ,Karyotype ,Cell Biology ,General Medicine ,biology.organism_classification ,In vitro ,Sendai virus ,3. Good health ,Cell biology ,030104 developmental biology ,lcsh:Biology (General) ,Cell culture ,Intercellular Signaling Peptides and Proteins ,Line (text file) ,Reprogramming ,Developmental Biology - Abstract
We would like to thank the patient and their guardians for their generous donation of the urine sample used in this study. We also would like to thank Ana Jardim for technical support in karyotype analysis. This work was supported by Fundacao para a Ciencia e a Tecnologia (PTDC/BIM-MED/3363/2014). iNOVA4Health - UID/Multi/04462/2013, a program financially supported by Fundacao para a Ciencia e Tecnologia/Ministerio da Educacao e Ciencia, through national funds and co-funded by FEDER under the PT2020 Partnership Agreement is acknowledged. A DAND5-control human iPSC line was generated from the urinary cells of a phenotypically normal donor. Exfoliated renal epithelial (RE) cells were collected and reprogrammed into iPSCs using Sendai virus reprogramming system. The pluripotency, in vitro differentiation potential, karyotype stability, and the transgene-free status of generated iPSC line were analyzed and confirmed. This cell line can be exploited as a control iPSC line to better understand the mechanisms involved in DAND5-associated cardiac disease. publishersversion published
- Published
- 2018
32. Assistência ventricular esquerda numa criança de 5 anos – ponte para recuperação num caso de miocardite viral
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Graça Nogueira, Manuela Nunes, Miguel Abecasis, Nuno Carvalho, Rui Rodrigues, Margarida Silva, Rui Anjos, Patrícia Costa, and José Neves
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Gynecology ,medicine.medical_specialty ,lcsh:Diseases of the circulatory (Cardiovascular) system ,business.industry ,lcsh:RC666-701 ,medicine ,Cardiology and Cardiovascular Medicine ,business - Abstract
Resumo: Introdução: A miocardite viral pode cursar com insuficiência cardíaca refratária à medicação. Nestes casos, a assistência ventricular externa é uma alternativa que pode ser usada como ponte para transplante ou para recuperação. Descrevemos o primeiro caso em Portugal de recuperação da função ventricular após assistência ventricular por miocardite grave. Caso clínico: Apresentamos o caso de uma criança de 5 anos, sexo masculino, sem doença cardíaca prévia, com miocardite viral grave, insuficiência cardíaca refratária à medicação e serologias positivas para Parvovírus B19 e vírus Ebstein-Barr. Foi implantado o Berlin Heart Excor® 15 dias após o diagnóstico. A biopsia cardíaca, na altura da implantação, mostrava áreas de fibrose subendocárdica. Verificou-se recuperação da função miocárdica, tendo sido retirada a assistência ventricular após 40 dias da implantação. O doente teve alta 15 dias depois. Discussão: A sobrevida das crianças em assistência ventricular tem vindo a melhorar significativamente, devido ao planeamento atempado e à otimização da anticoagulação. A presença de fibrose subendocárdica no contexto de miocardite não constitui uma indicação formal para transplante. Abstract: Introduction: Viral myocarditis can lead to heart failure that is refractory to medication. In these cases, a ventricular assist device is a good therapeutic option that can be used as a bridge to transplantation or recovery. We describe the first case in Portugal of recovery with ventricular assistance after severe myocarditis. Case report: A five-year-old boy with no previous cardiac disease presented with severe viral myocarditis, refractory to medical treatment, with positive serology for parvovirus B19 and Ebstein-Barr virus. A Berlin Heart Excor® was implanted 15 days after diagnosis. A biopsy at the time of implantation showed subendocardial fibrosis. After 40 days of assistance ventricular function recovered and the device was explanted. The patient was discharged from hospital 15 days later. Discussion: Survival of children with ventricular assistance has improved significantly because of earlier implantation and coagulation monitoring. The presence of subendocardial fibrosis in the context of myocarditis is not a mandatory indication for transplantation. Palavras-chave: Assistência ventricular externa, Berlin Heart Excor®, Insuficiência cardíaca, Miocardite viral, Keywords: Assisted circulation, Circulatory assist devices, Heart failure, Viral myocarditis
- Published
- 2012
33. Terapêutica de ressincronização na miocardiopatia induzida pelo pacing ventricular direito em doente pediátrico
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Maymone Martins, Graça Nogueira, Pedro Carmo, José Pedro Neves, Pedro Adragão, Rui Anjos, Regina Ribeiras, and Diogo Cavaco
- Subjects
lcsh:Diseases of the circulatory (Cardiovascular) system ,lcsh:RC666-701 ,cardiovascular system ,cardiovascular diseases ,Cardiology and Cardiovascular Medicine - Abstract
Resumo: Um recém-nascido do sexo masculino apresenta bloqueio aurículo-ventricular completo pelo que foi implantado um pacemaker VVI ao 2.° dia de vida.Três anos depois o doente desenvolve disfunção ventricular esquerda, regurgitação mitral grave e insuficiência cardíaca progressiva apesar da terapêutica médica otimizada. Nesse contexto efetuamos terapêutica de ressincronização (CRT). Este é o primeiro relato português de implantação de CRT em idade pediátrica.Um ano após a implantação o ecocardiogrma mostra melhoria da fração de ejeção, redução do diâmetro telediastólico do ventrículo esquerdo e redução muito significativa da regurgitação mitral. A classe funcional de New York Heart Association melhorou de III-IV para I. Abstract: A 2-day-old male infant required a conventional VVI pacemaker for congenital atrioventricular block.Three years later, he developed progressive heart failure due to left ventricular (LV) dysfunction and mitral regurgitation despite optimized medical treatment, and a cardiac resynchronization therapy (CRT) device was implanted. This is the first Portuguese report of CRT in a pediatric patient.One-year echocardiographic follow-up showed that LV shortening fraction had improved and LV end-diastolic dimension and mitral regurgitation had decreased. New York Heart Association class had improved from III-IV to I at 1-year follow-up. Palavras-chave: Terapêutica de ressincronização cardíaca (CRT), Cardiomiopatia induzida pelo pacing direito, Remodelagem reversa, Keywords: Cardiac resynchronization therapy, Cardiomyopathy after right ventricular pacing, Reverse remodeling
- Published
- 2012
34. The role of three-dimensional transesophageal echocardiography in percutaneous closure of atrial septal defects associated with aneurysm of the atrial septum
- Author
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Duarte Martins, Rui Anjos, Cátia Costa, and Canada M
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medicine.medical_specialty ,lcsh:Diseases of the circulatory (Cardiovascular) system ,Percutaneous ,Echocardiography, Three-Dimensional ,Heart Septal Defects, Atrial ,Atrial septal defects ,Aneurysm ,Internal medicine ,medicine ,Humans ,Cardiac Surgical Procedures ,Heart Aneurysm ,Aged ,General Environmental Science ,Heart septal defect ,business.industry ,medicine.disease ,Atrial septum ,Surgery, Computer-Assisted ,lcsh:RC666-701 ,Cardiology ,General Earth and Planetary Sciences ,Female ,Cardiology and Cardiovascular Medicine ,business ,Echocardiography, Transesophageal - Published
- 2017
35. Constrictive Pericarditis: A Challenging Diagnosis in Paediatrics
- Author
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Inês Carmo Mendes, Rui Anjos, and Mariana Faustino
- Subjects
Constrictive pericarditis ,Pathology ,medicine.medical_specialty ,lcsh:Diseases of the circulatory (Cardiovascular) system ,business.industry ,Case Report ,Criança ,Disease ,Pericardite constritiva ,medicine.disease ,Right heart failure ,lcsh:RC666-701 ,Internal medicine ,medicine ,Cardiology ,Cardiology and Cardiovascular Medicine ,business ,Intensive care medicine ,Surgical treatment ,Child ,Cardiac imaging - Abstract
Constrictive pericarditis is an uncommon disease in children, usually difficult to diagnose. We present the case of a 14-year-old boy with a previous history of tuberculosis and right heart failure, in whom constrictive pericarditis was diagnosed. The case highlights the need to integrate all information, including clinical data, noninvasive cardiac imaging, and even invasive hemodynamic evaluation when required, in order to establish the correct diagnosis and proceed to surgical treatment.
- Published
- 2015
36. Pseudo-pulmonary Embolism – A Case of Hypoxemia Associated with Right-to-left Shunt
- Author
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Rui Anjos, Mariana Faustino, Ana Oliveira Soares, Antonio Carlos de Freitas, Fernando Rodrigues, and Víctor Gil
- Subjects
Male ,medicine.medical_specialty ,lcsh:Diseases of the circulatory (Cardiovascular) system ,Right-to-left shunt ,Case Report ,Transesophageal ,Comunicação Interatrial ,Intracardiac injection ,Heart Septal Defects, Atrial ,Hypoxemia ,Dispneia ,Orthostatic vital signs ,Internal medicine ,medicine.artery ,mental disorders ,Medicine ,Humans ,Arterial Pressure ,cardiovascular diseases ,Heart Aneurysm ,Hypoxia ,Aged ,Heart septal defect ,business.industry ,Atrial ,Heart Septal Defects ,Heart atria ,medicine.disease ,respiratory tract diseases ,Shunt (medical) ,Pulmonary embolism ,Echocardiography, Doppler, Color ,Blood pressure ,Dyspnea ,Echocardiography ,lcsh:RC666-701 ,Anesthesia ,Ecocardiografia Transesofagiana ,Cardiology ,cardiovascular system ,medicine.symptom ,Cardiology and Cardiovascular Medicine ,business ,Pulmonary Embolism ,Echocardiography, Transesophageal - Abstract
Platypnea orthodeoxia is a rare syndrome characterized by dyspnea and decreased arterial oxygen saturation when passing from the dorsal decubitus position to the sitting or upright position1. It usually results from an intracardiac right-to-left shunt; however, the pathophysiological mechanism responsible for the positional nature of the shunt has not been clarified1,2. We report a case of dyspnea and orthostatic hypoxemia, which was attributed to a right-to-left shunt due to atrial septal defect (ASD).
- Published
- 2015
37. Disfunção ventricular grave mas reversível no lactente
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Inês Carmo Mendes, Ana Teixeira, Rui Anjos, Pedro Magro, Ana Rita Araújo, and José Pedro Neves
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lcsh:Diseases of the circulatory (Cardiovascular) system ,lcsh:RC666-701 ,Cardiology and Cardiovascular Medicine - Published
- 2015
38. Tetralogy of Fallot with absent pulmonary valve
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Helena Rego, Teresa Jacinto, Miguel Abecasis, Ana Teixeira, Rui Anjos, and Ana Carolina Araújo
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medicine.medical_specialty ,Pulmonary Valve ,lcsh:Diseases of the circulatory (Cardiovascular) system ,business.industry ,Infant ,medicine.disease ,Absent pulmonary valve ,lcsh:RC666-701 ,Internal medicine ,medicine ,Cardiology ,Tetralogy of Fallot ,General Earth and Planetary Sciences ,Humans ,Abnormalities, Multiple ,Female ,business ,General Environmental Science ,Ultrasonography - Published
- 2014
39. Technique of percutaneous laser-assisted valve dilatation for valvar atresia in congenital heart disease
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Rosenthal, E., Qureshi, S. A., Kakadekar, A. P., Rui Anjos, Baker, E. J., and Tynan, M.
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Research Article - Abstract
OBJECTIVE--To investigate the efficacy and safety of transcatheter laser-assisted valve dilatation for atretic valves in children with congenital heart disease. DESIGN--Prospective clinical study. SETTING--Supraregional paediatric cardiology centre. SUBJECTS--Eleven children (aged 1 day-11 years; weight 2.1-35.7 kg) with atresia of pulmonary (10) or tricuspid (one) valve underwent attempted laser-assisted valve dilatation as part of the staged treatment of their cyanotic heart disease. INTERVENTION--After delineating the atretic valve by angiography and/or echocardiography a 0.018 inch "hot tip" laser wire was used to perforate the atretic valve. Subsequently the valve was dilated with conventional balloon dilatation catheters up to the valve annulus diameter. RESULTS--Laser-assisted valve dilatation was successfully accomplished in nine children. In two neonates with pulmonary valve atresia, intact ventricular septum, and coexistent infundibular atresia the procedure resulted in cardiac tamponade: one died immediately and one later at surgery. During a follow up of 1-17 months (mean 11) two infants with pulmonary valve atresia and intact ventricular septum died (one with congestive cardiac failure). The remainder are either well palliated and do not require further procedures (three), or are awaiting further transcatheter or surgical procedures because of associated defects (four). CONCLUSIONS--Laser-assisted valve dilatation is a promising adjunct to surgery in this high risk group of patients. It may avoid surgery in some patients, and may reduce the number of surgical procedures in those requiring staged operations.
- Published
- 1993
40. Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication
- Author
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Raquel Moniz, Rui Anjos, Isabel M. Carreira, Rita Cabral, Renato Pires, Sara O. Vaz, Luís Pires, Claudia C. Branco, Luisa Mota-Vieira, and Paula Maciel
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Heart Defects, Congenital ,Male ,22q11.2 deletion ,Adolescent ,DNA Copy Number Variations ,Chromosomes, Human, Pair 22 ,Trisomy ,22q11.2 triplication ,Biology ,Bioinformatics ,Young Adult ,Gene duplication ,Genetics ,Humans ,Genetics(clinical) ,Multiplex ligation-dependent probe amplification ,Copy-number variation ,Genetic Testing ,Paternal Inheritance ,Child ,Gene ,Genetics (clinical) ,Azores ,Congenital heart disease ,Comparative Genomic Hybridization ,Chromosome ,Middle Aged ,Chromosomal region ,Female ,Comparative genomic hybridization ,Research Article ,22q11.2 microduplication - Abstract
Background The rearrangements in the 22q11.2 chromosomal region, responsible for the 22q11.2 deletion and microduplication syndromes, are frequently associated with congenital heart disease (CHD). The present work aimed to identify the genetic basis of CHD in 87 patients from the São Miguel Island, Azores, through the detection of copy number variants (CNVs) in the 22q11.2 region. These structural variants were searched using multiplex ligation-dependent probe amplification (MLPA). In patients with CNVs, we additionally performed fluorescent in situ hybridization (FISH) for the assessment of the exact number of 22q11.2 copies among each chromosome, and array comparative genomic hybridization (array-CGH) for the determination of the exact length of CNVs. Results We found that four patients (4.6%; A to D) carried CNVs. Patients A and D, both affected with a ventricular septal defect, carried a de novo 2.5 Mb deletion of the 22q11.2 region, which was probably originated by inter-chromosomal (inter-chromatid) non-allelic homologous recombination (NAHR) events in the regions containing low-copy repeats (LCRs). Patient C, with an atrial septal defect, carried a de novo 2.5 Mb duplication of 22q11.2 region, which could have been probably generated during gametogenesis by NAHR or by unequal crossing-over; additionally, this patient presented a benign 288 Kb duplication, which included the TOP3B gene inherited from her healthy mother. Finally, patient B showed a 3 Mb triplication associated with dysmorphic facial features, cognitive deficit and heart defects, a clinical feature not reported in the only case described so far in the literature. The evaluation of patient B’s parents revealed a 2.5 Mb duplication in her father, suggesting a paternal inheritance with an extra copy. Conclusions This report allowed the identification of rare deletion and microduplication syndromes in Azorean CHD patients. Moreover, we report the second patient with a 22q11.2 triplication, and we suggest that patients with triplications of chromosome 22q11.2, although they share some characteristic features with the deletion and microduplication syndromes, present a more severe phenotype probably due to the major dosage of implicated genes.
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41. Polymalformative syndrome with congenital heart defect
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Teresa Castro, Sara Pimentel Marcos, Rui Anjos, and Anabela Salazar
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Heart Defects, Congenital ,Male ,business.industry ,Transposition of Great Vessels ,lcsh:R ,Infant, Newborn ,lcsh:Medicine ,Heart defect ,Cardiomegaly ,Learning by Images ,General Medicine ,Aprendendo Por Imagens ,Radiography ,Goldenhar Syndrome ,Medicine ,Humans ,business ,Humanities - Abstract
Hospital de Santa Cruz, Centro Hospitalar Lisboa Ocidental, Lisboa, Portugal.Corresponding author: Sara Pimentel Marcos – Hospital de Sao Francisco Xavier, Estrada do Forte do Alto do Duque − Sao Francisco Xavier − Zip code: 1449-005 − Lisboa, Portugal − Phone: +00351210431441 E-mail: sarasenamarcos@gmail.comReceived on: Aug 5, 2013 – Accepted on: Mar 11, 2014DOI: 10.1590/S1679-45082015AI2900
42. Percutaneous laser-assisted balloon pulmonary valve dilation in pulmonary valve atresia
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Eric Rosenthal, Shakeel A. Qureshi, Rui Anjos, Michael Tynan, and Edward Baker
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medicine.medical_specialty ,Percutaneous ,business.industry ,Pulmonary valve atresia ,Laser assisted ,Balloon ,medicine.anatomical_structure ,Internal medicine ,Pulmonary valve ,medicine ,Cardiology ,Dilation (morphology) ,Cardiology and Cardiovascular Medicine ,Pulmonary wedge pressure ,business - Full Text
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43. Attempting and aborting percutaneous closure of a peculiar atrial septal defect: important contribution of multiple real-time imaging modalities.
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João Abecasis, Raquel Dourado, Rui Ferreira, Ana Teixeira, Renata Rossi, Rui Anjos, and Fernando Maymone
- Abstract
The case of a 19-year-old female with a neonatal diagnosis of Tetralogy of Fallot and complete atrioventricular (AV) septal defect is described. She had had a corrective surgery at the age of 6. She did well afterwards despite recent complain of fatigability with mild arterial hypoxaemia. Transoesophageal echocardiography depicted a 12 mm atrial septal defect (ASD) with a bidirectional shunt, with features of a defect of the Ostium Primum type. The reason for the bidirectional shunt was unclear, and cardiac catheterization was performed. The presence of an ASD of the Ostium Primum type was confirmed with normal pulmonary arterial pressures and resistances. The distance to the AV valves seemed compatible with the implantation of a small device and percutaneous closure of the ASD was attempted. However, it was noted that the device deployment would cause deviation of the tricuspid regurgitation jet to the left atrium. Direct coronary sinus catheterization demonstrated its direct roof opening to the left atrium. The device impaired the drainage of the coronary sinus, actually increasing the right-to-left shunt (Figure 4). The implantation was aborted and surgical correction was proposed. Coronary sinus septal defect is a rare form of ASD. Its diagnosis is often difficult because of non-specific features. In this case, oxygen desaturation at presentation seemed to be explained by the regurgitating jet of the right component of AV valve through the Ostium primum defect into the left atrium. Percutaneous closure of the defect was attempted. However, it became clear that the device-increased the right-to-left shunt is also allowing the diagnosis of an unroofed coronary sinus. Under these circumstances, surgery seemed to be the best option. [ABSTRACT FROM AUTHOR]
- Published
- 2009
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