146 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.
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- 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.
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- 2015
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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. Diastolic Function and Left Atrial Strain in Young Patients with History of Aortic Coarctation Repair
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Mariana Lemos, João Rato, Miguel Fogaça da Mata, Mafalda Sequeira, Susana Cordeiro Mendes, and Rui Anjos
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Pediatrics, Perinatology and Child Health ,Cardiology and Cardiovascular Medicine - Abstract
Aortic coarctation (AoCo) leads to long-term sequelae that may impair heart function. Data regarding new echocardiographic function parameters such as atrial strain, in affected patients, are scarce. This study aims to describe these parameters in AoCo patients and define their association with severity measures. 53 AoCo patients and 31 healthy controls, aged 12-40 years, were evaluated. Effectively corrected AoCo (cAoCo) was defined as aortic trans-isthmic corrected Doppler gradient (Dgrad) ≤ 20 mmHg (n = 36), and recoarctation (rAoCo) as Dgrad 20 mmHg (n = 17). Dependent variables were: E/E'; atrial reservoir strain (Ares); and atrial conduit strain (Acd). T-tests/Mann-Whitney U tests were used to compare these among groups. Multivariable regression was used to test correlation with systolic blood pressure (SBP), indexed LV mass (ILVM), Dgrad, and the ratio between the narrowest diameter of aortic arch and aorta at diaphragm level (Aoratio). In cAoCo and rAoCo patients, E/E' was higher (p 0.001), Ares, and Acd were lower (p 0.001 for both) comparing with controls. Acd was higher in cAoCo than rAoCo (p = 0.045). Higher Ares was associated with higher Aoratio (p = 0.002), and lower Acd with higher Dgrad (0.014). EF and GLS were not different among groups. Young patients with effectively corrected aortic coarctation have persistent changes in diastolic function parameters (E/E' and atrial strain), and these are affected by anatomical sequelae. These patients' physiology is closer to patients with recoarctation, than to healthy individuals. This provides rationale for a stronger prevention, and treatment, of arterial dysfunction and high left ventricular afterload in these patients.
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- 2022
31. Azacitidine-induced massive pericardial effusion in a child with myelodysplastic syndrome
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Miguel Fogaça da Mata, Miguel Vieira Martins, João Rato, Márcio Madeira, Jean-Pierre Gonçalves, Ana Teixeira, and Rui Anjos
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Adult ,Male ,Oncology ,Myelodysplastic Syndromes ,Azacitidine ,Humans ,Pericardiocentesis ,Pharmacology (medical) ,Child ,Pericardial Effusion ,Cardiac Tamponade - Abstract
Introduction Pericardial effusions are rare yet potentially fatal conditions in children. Azacitidine is a DNA-hypomethylating agent used in the treatment of myelodysplastic syndrome. Although seldomly described in adults, no cases of azacitidine-induced pericardial effusion have been reported in children. Case report A 7-year-old boy with myelodysplastic syndrome presented with a large pericardial effusion with risk for cardiac tamponade after his first azacitidine cycle. Management & outcome The patient was admitted to a pediatric ICU, antibiotic and steroid therapy were initiated. Pericardiocentesis was done due to hemodynamic instability. Serum and pericardial fluid complementary evaluation excluded infectious and malignant causes. The pericardial effusion did not reappear and additional pleural and ascitic slight effusions responded well to diuretics. Follow-up azacitidine cycles were administered by tapering daily dosages and using adjunctive steroid therapy, with no additional adverse events. Discussion We report the first pediatric case of large pericardial effusion secondary to azacitidine therapy in a child with MDS. This adverse reaction has not been described in pediatric patients, in which this therapeutic option has been increasingly used. We seek to raise awareness on the potential life-threatening cardiotoxicity of azacitidine in pediatric patients.
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- 2022
32. Investigation of atrial mass by multi-imaging and biopsy
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Odete R. Mingas, Mónica Rebelo, Ximo Duarte, and Rui Anjos
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Pediatrics, Perinatology and Child Health ,General Medicine ,Cardiology and Cardiovascular Medicine - Abstract
The authors describe the case of a child with a history of relapsed acute lymphoblastic leukaemia with a giant intra-auricular lymphomatous mass, submitted to investigation by multiple imaging methods and biopsy.
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- 2022
33. Evolution of acute myocarditis in a pediatric population: An MRI based study
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Giovanni Donato Aquaro, Andrea Barison, Yasmine Benadjaoud, Damien Bonnet, F. Raimondi, Duarte Martins, Rui Anjos, Pierluigi Festa, Diala Khraiche, Lamia Ait-Ali, Nathalie Boddaert, and Nicola Martini
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medicine.medical_specialty ,Myocarditis ,Contrast Media ,Magnetic Resonance Imaging, Cine ,030204 cardiovascular system & hematology ,Ventricular Function, Left ,03 medical and health sciences ,0302 clinical medicine ,Predictive Value of Tests ,Cardiac magnetic resonance imaging ,Interquartile range ,Internal medicine ,medicine ,Humans ,cardiovascular diseases ,030212 general & internal medicine ,Child ,Ejection fraction ,medicine.diagnostic_test ,business.industry ,Dilated cardiomyopathy ,Odds ratio ,medicine.disease ,Magnetic Resonance Imaging ,Heart failure ,Cardiology ,End-diastolic volume ,Cardiology and Cardiovascular Medicine ,business - Abstract
Cardiac Magnetic Resonance (CMR) data regarding myocarditis presentation and disease course is still lacking in pediatric patients. We evaluate baseline CMR and evolution of functional and tissue abnormalities in children with acute myocarditis.CMR was performed in 125 patients with clinical diagnosis of acute myocarditis. Clinical follow-up was performed for a median of 498 (214-923) days.LVEF was depressed (55%) in 56 cases (45%) upon baseline CMR. LGE was found in 93 patients (77%) of cases. LGE was exclusively subepicardial in 29 patients (23%), while other LGE patterns (midwall/mixed) were present in 64 (51%). CMR was repeated in 92 (74%) patients. 67% presented recover of function at a median of 170 (70-746) days after onset of symptoms. Midwall/mixed LGE pattern had a statistically significant correlation with absent recover of function (OR 0.20 p 0.036). Thirteen patients (16%) had recovery from LV dysfunction but with persistence of LGE. Sub-epicardial pattern of LGE (OR 3.33, 95% CI 1.08-10.2, p = 0.036) and the presence of fever at admission (OR 4.67, 95% CI 1.16-18.7, p = 0.03) were associated with a significantly higher likelihood of complete normalization while midwall/mixed LGE pattern was associated with non-recovery.In pediatric myocarditis, midwall/mixed LGE pattern is associated with absent recover of function. Patients with recover of function may still have persistence of LGE, while a complete recovery from functional and tissue abnormalities is found only in a third of patients. Midwall/mixed pattern of LGE at first MRI was associated to worse outcome.
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- 2021
34. The Influence of Atrial Strain on Functional Capacity in Patients with the Fontan Circulation
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Mariana Lemos, Ana E. Sousa, Rui Anjos, Susana Cordeiro Mendes, João Rato, and Duarte Martins
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Male ,medicine.medical_specialty ,Multivariate statistics ,Adolescent ,Speckle tracking echocardiography ,030204 cardiovascular system & hematology ,Fontan Procedure ,Univentricular Heart ,03 medical and health sciences ,Oxygen Consumption ,0302 clinical medicine ,Statistical significance ,Internal medicine ,medicine ,Humans ,Heart Atria ,Child ,Univariate analysis ,Ejection fraction ,Atrium (architecture) ,business.industry ,Atrial Function ,Cardiac surgery ,030228 respiratory system ,Echocardiography ,Multivariate Analysis ,Pediatrics, Perinatology and Child Health ,Exercise Test ,Cardiology ,Female ,Cardiology and Cardiovascular Medicine ,Ventilatory threshold ,business ,human activities - Abstract
Speckle-tracking echocardiography has been used to assess atrial function. This analysis is feasible in univentricular hearts. The aim of this study was to characterize the relationship between atrial strain and functional capacity in the Fontan circulation. Apical four-chamber echocardiographic loops of 39 Fontan patients were reviewed. The dominant atrium was assessed for active (eact), conduit (econ), and reservoir (eres) strain and eact/eres ratio. Cardiopulmonary exercise test was performed on the same day and oxygen uptake (VO2) at ventilatory threshold (VT) and peak VO2 were chosen as the dependent variables. Statistical analysis was performed using SPSS® version 23. Unpaired t test was used for binomial and continuous variable correlation; single and multivariable linear regression were used for continuous variable correlation. Statistical significance was defined as p value
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- 2020
35. Atrial septal defect closure in conotruncal defects: a cautionary tale
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Duarte Martins, Rui Anjos, and Rita Ataíde Silva
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Aortic dissection ,medicine.medical_specialty ,Percutaneous ,business.industry ,Decompression ,Atrial septal defect closure ,030204 cardiovascular system & hematology ,medicine.disease ,Truncus arteriosus ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,Conotruncal defect ,cardiovascular system ,medicine ,Cardiology ,cardiovascular diseases ,030212 general & internal medicine ,Cardiology and Cardiovascular Medicine ,Complication ,Cardiac magnetic resonance ,business - Abstract
The authors present an image obtained from a routine cardiac magnetic resonance (CMR) examination performed on a 13-year-old boy who had undergone truncus arteriosus type I repair in infancy. Surgery had been unremarkable. An atrial septal defect (ASD) had been left open for atrial decompression. At the age of 3, percutaneous closure was proposed on the grounds of persistent cyanosis, fatigue and right ventricular dilatation. Closure of the defect was achieved with an 11 mm Amplatzer septal occluder (ASO) device, now well visualised in figure 1. Figure 1 Cardiac magnetic resonance (CMR) image, short-axis view. What serious complication was narrowly avoided in the closure procedure? 1. Erosion due to a short aortic rim. 2. Device embolisation due to suboptimal final position. 3. Device-mediated aortic dissection. 4. Myocardial ischaemia …
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- 2020
36. Sports practice predicts better functional capacity in children and adults with Fontan circulation
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Ana E. Sousa, Rui Anjos, Miguel Mendes, Susana Cordeiro, and João Rato
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Adult ,medicine.medical_specialty ,Multivariate analysis ,Adolescent ,medicine.medical_treatment ,Population ,030204 cardiovascular system & hematology ,Fontan Procedure ,Fontan procedure ,03 medical and health sciences ,Oxygen Consumption ,0302 clinical medicine ,Internal medicine ,Humans ,Medicine ,Prospective Studies ,030212 general & internal medicine ,Treadmill ,Child ,education ,education.field_of_study ,Exercise Tolerance ,Rehabilitation ,business.industry ,VO2 max ,Exercise Test ,Cardiology ,Transthoracic echocardiogram ,Cardiology and Cardiovascular Medicine ,business ,Ventilatory threshold ,human activities - Abstract
Background Peak oxygen uptake (peak VO2) and its decline predict death or serious cardiovascular adverse events in patients with Fontan circulation. Our aim was to study VO2 in a population of Fontan patients with variable age and contemporary surgical correction, and find predictors of functional status which could lead to management changes. Methods Prospective cardiopulmonary exercise test was performed on a treadmill. Blood tests and transthoracic echocardiogram were performed on the same day. Dependent variables were defined as: VO2 at ventilatory threshold (VT) as a percentage of the predicted peak VO2 and peak VO2 as a percentage of its predicted value. Statistical analysis was performed on SPSS® version 23 and significance was defined as a p-value Results Forty-eight patients were included for analysis. All had a lateral or extracardiac conduit. Mean age was 18.2 years (SD 6.2). Mean age at Fontan completion of 6.5 years (SD 2.3) showed no association with functional capacity. Mean percent VO2 at VT was 37.6% (SD 9.4) and percent peak VO2 was 67.8% (SD 16.7). VO2 both at ventilatory threshold and peak was associated with age, weekly sports practice, significant atrioventricular regurgitation and having a pacemaker or being on antiarrhythmic drugs. On multivariate analysis, weekly sports practice was the best predictor for VO2 values. Conclusions Sports practice is a modifiable factor that significantly impacts functional capacity in Fontan patients despite their age. Clinicians should actively prescribe and promote physical activity in this population, either with regular sports practice or engagement in cardiac rehabilitation programs.
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- 2020
37. Cardiac MRI Prediction of Recovery in Children With Acute Myocarditis
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Yasmine Benadjaoud, Diala Khraiche, Nathalie Boddaert, Nicola Martini, Duarte Martins, Rui Anjos, Lamia Ait-Ali, Andrea Barison, Pierluigi Festa, Giovanni Donato Aquaro, Francesca Raimondi, and Damien Bonnet
- Subjects
medicine.medical_specialty ,Myocarditis ,Magnetic Resonance Imaging, Cine ,Chest pain ,Predictive Value of Tests ,Fibrosis ,Interquartile range ,Internal medicine ,Humans ,Medicine ,Radiology, Nuclear Medicine and imaging ,cardiovascular diseases ,Child ,Ejection fraction ,medicine.diagnostic_test ,business.industry ,Dilated cardiomyopathy ,Magnetic resonance imaging ,medicine.disease ,Magnetic Resonance Imaging ,Heart failure ,Cohort ,Cardiology ,medicine.symptom ,Cardiology and Cardiovascular Medicine ,business - Abstract
Myocarditis, defined as inflammation of myocardial tissue, is a rare disease in the pediatric population. Cardiovascular cardiac magnetic resonance (CMR) is a powerful tool for noninvasive assessment of myocardial inflammation as defined by the Lake Louise criteria, with a sensitivity of approximately 82% [1] . CMR allows tissue characterization of the myocardium, as well as accurate definition of ventricular volumes and function. Few prognostic factors have been associated with either normalization of function or progression to dilated cardiomyopathy in pediatric myocarditis. In the present study, we aimed to describe CMR findings in a large cohort of pediatric patients with acute myocarditis and to assess disease evolution. Our study received the proper ethical oversight [CNIL (Commission nationale de l’informatique et des libertes) declaration 2130271 v 0]. Sixty-eight children younger than 18 years of age with clinical myocarditis and positive acute-phase myocardial inflammation, as defined by the Lake Louise criteria [2] , underwent follow-up CMR during a 12-year period (from March 2007 to March 2019). The first follow-up CMR study was performed at a median of 5 months after the first examination (interquartile range: 1 to 6 months), and additional CMR studies were performed in 47% of the cohort (32 patients). Patient characteristics are presented in Table 1 . Most of the cohort were males (73.5%) who presented with chest pain (68%) or new-onset heart failure (33%). Fever was found in 55% of the cohort. Full recovery from acute myocarditis, as defined by normalization of ventricular function [left ventricular ejection fraction (LVEF) > 55%, right ventricular EF > 54%], ventricular dimensions (LV end-diastolic volume index [3] . This difference might translate to a higher healing ability of pediatric patients from tissue damage, as seen in other medical conditions. This complete healing of myocardial tissue abnormalities might be clinically relevant because residual fibrosis was associated with worse prognosis independently of LVEF [3] , [4] . In our study, an LGE pattern other than sub-epicardial was associated with non-recovery. This result was concordant with a recent study by Aquaro et al. [5] , who demonstrated a worse prognosis in association with a mid-wall septal pattern of LGE compared with a sub-epicardial inferior-lateral pattern. In conclusion, we found that fever at presentation was associated with full recovery from acute myocarditis, whereas specific acute-phase CMR findings (positive T2 criteria, LGE presence, and patterns other than sub-epicardial) were associated with its absence.
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- 2021
38. Spontaneous thrombosis of the arterial duct in a newborn with alloimmune thrombocytopaenia
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Odete R. Mingas, Rui Anjos, Natália Noronha, and Graça Sousa
- Subjects
medicine.medical_specialty ,Respiratory distress ,business.industry ,Infant, Newborn ,Arterial duct ,Hemorrhage ,Thrombosis ,General Medicine ,medicine.disease ,Trunk ,Thrombocytopenia ,Catheterization ,Catheter ,Internal medicine ,Pediatrics, Perinatology and Child Health ,Cardiology ,medicine ,Humans ,Thrombus ,Cardiology and Cardiovascular Medicine ,business ,Spontaneous thrombosis - Abstract
We present an uncommon challenging case of spontaneous thrombosis of the arterial duct and with alloimmune thrombocytopaenia in a full-term newborn who presented with respiratory distress, hypoglycaemia dispersed petechiae on the trunk, and significant haemorrhage of the umbilical venous catheter.
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- 2021
39. Arrhythmogenic right ventricular cardiomyopathy presenting as myocarditis in young patients: a concealed relationship
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Oana Moldovan, Duarte Martins, Rita Ataíde, João Rato, Diogo Cavaco, and Rui Anjos
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medicine.medical_specialty ,Text mining ,Myocarditis ,business.industry ,Internal medicine ,Cardiology ,Medicine ,General Medicine ,business ,medicine.disease ,Right ventricular cardiomyopathy - Published
- 2020
40. Miocardiopatía arritmogénica del ventrículo derecho en pacientes jóvenes con miocarditis: una asociación oculta
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João Rato, Rita Ataíde, Rui Anjos, Oana Moldovan, Duarte Martins, and Diogo Cavaco
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business.industry ,Medicine ,Cardiology and Cardiovascular Medicine ,business ,Humanities - Published
- 2020
41. A sudden turner of events
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Duarte Martins, Inês Carmo Mendes, Rui Anjos, and João Rato
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Pulmonary and Respiratory Medicine ,Aortic dissection ,medicine.medical_specialty ,Percutaneous ,business.industry ,medicine.medical_treatment ,030204 cardiovascular system & hematology ,medicine.disease ,Surgery ,Lesion ,03 medical and health sciences ,0302 clinical medicine ,030228 respiratory system ,Turner syndrome ,cardiovascular system ,medicine ,medicine.symptom ,Cardiology and Cardiovascular Medicine ,Surgical treatment ,Complication ,business ,Cardiac catheterization - Abstract
The authors report the case of an 18-year-old woman with Turner Syndrome and aortic coarctation, who developed aortic dissection after percutaneous stenting. Surgical treatment was necessary as the lesion progressed. This case highlights both the importance of awareness as well as multidisciplinary management of this potential complication.
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- 2019
42. Congenital long QT syndrome presenting as unexplained bradycardia
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Rita Ataíde Silva, Ana R Sousa, Maria Salomé Leal de Carvalho, and Rui Anjos
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Electrocardiography ,Long QT Syndrome ,Pacemaker, Artificial ,congenital, hereditary, and neonatal diseases and abnormalities ,Mutation ,Bradycardia ,Infant, Newborn ,Humans ,Infant ,Arrhythmias, Cardiac ,cardiovascular diseases ,General Medicine - Abstract
Congenital long QT syndrome (LQTS) is a genetically autosomal heterogeneous disorder of the ion channels and causes about 10% of sudden death infant syndrome in newborns. Its estimated prevalence is approximately 1 in 2500, probably underestimated because of its clinical heterogenicity. Few cases of neonatal LQTS have been reported. In 4% of them, life-threatening arrhythmic events can be the first manifestation of LQTS. The authors report two cases of neonatal LQTS with heterogeneous genetic mutations. Both manifested by bradycardia, one since fetal life. One case had serious arrhythmias during beta blocker therapeutic establishment needing a pacemaker implantation. Genetic mutations found were not the most frequently described in association with neonatal bradycardia, thus the importance of this report. Presentation with bradycardia is relatively frequent in neonatal period, thus LQTS should be actively investigated in neonates with unexplained bradycardia. Beta blocker therapy reduces QTc and avoids arrhythmic events and sudden death.
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- 2022
43. Long-standing hypoxaemia in complex adult congenital heart disease: anatomical and functional interplay in an uncommon presentation
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Cláudia Jesus Silva, Sergio Madeira, João Abecasis, and Rui Anjos
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Adult ,Heart Defects, Congenital ,Heart Septal Defects, Ventricular ,Male ,congenital, hereditary, and neonatal diseases and abnormalities ,Echocardiography ,cardiovascular system ,Humans ,cardiovascular diseases ,General Medicine ,Hypoxia ,Heart Septal Defects, Atrial - Abstract
We report a case of a 28-year-old man lost to follow-up with chronic hypoxaemia and a history of an uncorrected tricuspid hypoplasia, perimembranous ventricular septal defect (VSD) and pulmonary stenosis. Given this initial diagnosis, chronic hypoxaemia was deemed to result from right-to-left shunt through the VSD driven by elevated right ventricle pressures. However, the further investigation identified an inferior sinus venosus atrial septal defect, unveiling the true mechanism behind the clinical scenario. The patient was submitted to surgical correction with clinical improvement. This case illustrates the defiant evaluation of this type of atrial septal defect through echocardiography and underlines the importance of a multimodal evaluation to reach an accurate diagnosis and optimal management.
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- 2022
44. Intracardiac versus extracardiac shunt in a young man with ischaemic stroke
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Mafalda Carrington, Ana Rita Pereira, Inês Carmo Mendes, and Rui Anjos
- Subjects
Adult ,Male ,Cardiac Catheterization ,Foramen Ovale, Patent ,General Medicine ,Brain Ischemia ,Stroke ,Young Adult ,Treatment Outcome ,cardiovascular system ,Humans ,cardiovascular diseases ,Echocardiography, Transesophageal ,Embolism, Paradoxical ,Ischemic Stroke - Abstract
A 24-year-old man with a history of recent ischaemic stroke was diagnosed with patent foramen ovale (PFO) and referred for closure at our hospital. At admission, besides low peripheral oxygen saturation (88%), physical examination was otherwise normal. We performed intraprocedural transoesophageal echocardiogram that revealed no PFO, although agitated saline injection demonstrated bubbles lately on the left atrium. The atrial septum could not be crossed. We suspected an extracardiac shunt, so pulmonary angiograms were performed that revealed the presence of a left pulmonary arteriovenous malformation (PAVM). A Konar-MF Occluder was used to occlude the PAVM, with a satisfactory result. At 6 months follow-up, the patient had normal peripheral oxygen saturation and a new pulmonary angiogram showed no residual shunt. Intrapulmonary shunts are a rare and under-recognised cause of paradoxical emboli in young patients; physicians should be aware of this diagnosis as percutaneous occlusion is indicated and critical to avoid recurrent ischaemic episodes.
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- 2022
45. Rivaroxaban compared with standard anticoagulants for the treatment of acute venous thromboembolism in children: a randomised, controlled, phase 3 trial
- Author
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Christoph Male, Anthonie W A Lensing, Joseph S Palumbo, Riten Kumar, Ildar Nurmeev, Kerry Hege, Damien Bonnet, Philip Connor, Hélène L Hooimeijer, Marcela Torres, Anthony K C Chan, Gili Kenet, Susanne Holzhauer, Amparo Santamaría, Pascal Amedro, Elizabeth Chalmers, Paolo Simioni, Rukhmi V Bhat, Donald L Yee, Olga Lvova, Jan Beyer-Westendorf, Tina T Biss, Ida Martinelli, Paola Saracco, Marjolein Peters, Krisztián Kállay, Cynthia A Gauger, M Patricia Massicotte, Guy Young, Akos F Pap, Madhurima Majumder, William T Smith, Jürgen F Heubach, Scott D Berkowitz, Kirstin Thelen, Dagmar Kubitza, Mark Crowther, Martin H Prins, Paul Monagle, Angelo C. Molinari, Ulrike Nowak Göttl, Juan Chain, Jeremy Robertson, Katharina Thom, Werner Streif, Rudolf Schwarz, Klaus Schmitt, Gernot Grangl, An Van Damme, Philip Maes, Veerle Labarque, Antonio Petrilli, Sandra Loggeto, Estela Azeka, Leonardo Brandao, Doan Le, Christine Sabapathy, Paola Giordano, Runhui Wu, Jie Ding, Wenyan Huang, Jianhua Mao, Päivi Lähteenmäki, Stephane Decramer, Toralf Bernig, Martin Chada, Godfrey Chan, Krisztian Kally, Beatrice Nolan, Shoshana Revel-Vilk, Hannah Tamary, Carina Levin, Daniela Tormene, Maria Abbattista, Andrea Artoni, Takanari Ikeyama, Ryo Inuzuka, Satoshi Yasukochi, Michelle Morales Soto, Karina A Solis Labastida, Monique H Suijker, Marike Bartels, Rienk Y Tamminga, C Heleen Van Ommen, D. Maroeska Te Loo, Rui Anjos, Lyudmila Zubarovskaya, Natalia Popova, Elena Samochatova, Margarita Belogurova, Pavel Svirin, Tatiana Shutova, Vladimir Lebedev, Olga Barbarash, Pei L Koh, Joyce C Mei, Ludmila Podracka, Ruben Berrueco, Maria F Fernandez, Tony Frisk, Sebastian Grunt, Johannes Rischewski, Manuela Albisetti-Pedroni, Ali Antmen, Huseyin Tokgoz, Zeynep Karakas, Jayashree Motwani, Michael Williams, John Grainger, Jeanette Payne, Mike Richards, Susan Baird, Neha Bhatnagar, Angela Aramburo, Shelley Crary, Tung Wynn, Shannon Carpenter, Sanjay Ahuja, Neil Goldenberg, Gary Woods, Kamar Godder, Ajovi Scott-Emuakpor, Gavin Roach, Leslie Raffini, Nirmish Shah, Sanjay Shah, Courtney Thornburg, Ayesha Zia, Roger Berkow, Medical University of Vienna, Vienna, Austria, CMR-M3C, Université Paris Descartes - Paris 5 (UPD5)-CHU Necker - Enfants Malades [AP-HP], Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Carl Gustav Carus University (DRESDEN - CGCU), Technische Universität Dresden (TUD), Pediatric Hematology, Emma Children's Hospital/Academic Medical Center, Department of Medicine, McMaster University [Hamilton, Ontario], Department of Earth and Environmental Sciences [Leuven-Heverlee], Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Service de Pédiatrie [HU Antwerp, Belgium], Antwerp University Hospital [Edegem] (UZA), Service de Pédiatrie - Néphrologie, Médecine interne, Hypertension, CHU Toulouse [Toulouse]-Hôpital des Enfants, CHU Toulouse [Toulouse], Pediatric Hematology/Oncology Department, Hadassah Hebrew University Medical Center [Jerusalem], Pediatric Hematology Unit (Pediatric Hematology Unit), Schneider Children's Medical Center of Israel, Hospital de Santa Cruz, Institute for Information Transmission Problems, Russian Academy of Sciences [Moscow] (RAS), Department of Paediatric Haematology, Hospital Sant Joan de Déu [Barcelona], Laboratoire d'Ecologie Microbienne - UMR 5557 (LEM), Centre National de la Recherche Scientifique (CNRS)-Ecole Nationale Vétérinaire de Lyon (ENVL)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Recherche Agronomique (INRA)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS), Department of Human Evolution [Leipzig], Max Planck Institute for Evolutionary Anthropology, Max-Planck-Gesellschaft-Max-Planck-Gesellschaft, Paediatric Haematology, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Département de pédiatrie, RS: CAPHRI - R5 - Optimising Patient Care, Epidemiologie, MUMC+: KIO Kemta (9), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Technische Universität Dresden = Dresden University of Technology (TU Dresden), and Max Planck Institute for Evolutionary Anthropology [Leipzig]
- Subjects
Male ,Pediatrics ,DRUG EFFICACY ,[SDV]Life Sciences [q-bio] ,Vascular damage Radboud Institute for Health Sciences [Radboudumc 16] ,FONDAPARINUX ,RANDOMIZED CONTROLLED TRIAL ,MAJOR CLINICAL STUDY ,ADOLESCENT ,LOW MOLECULAR WEIGHT HEPARIN ,law.invention ,Adolescent ,Anticoagulants ,Child ,Child, Preschool ,Female ,Humans ,Infant ,Risk Factors ,Rivaroxaban ,Venous Thromboembolism ,0302 clinical medicine ,Randomized controlled trial ,CHILD ,law ,Medicine ,PRIORITY JOURNAL ,610 Medicine & health ,ANTICOAGULANT AGENT ,oral rivaroxaban ,HUMAN ,RISK FACTOR ,CLINICAL TRIAL ,HUMANS ,Hematology ,DISEASE BURDEN ,Thrombosis ,3. Good health ,DRUG SAFETY ,FEMALE ,OPEN STUDY ,FOLLOW UP ,BLEEDING ,030220 oncology & carcinogenesis ,medicine.drug ,medicine.medical_specialty ,INTENTION TO TREAT ANALYSIS ,ANTICOAGULANTS ,03 medical and health sciences ,ANTICOAGULATION ,ANTIVITAMIN K ,ARTICLE ,Preschool ,CHILD, PRESCHOOL ,VENOUS THROMBOEMBOLISM ,disease ,MALE ,business.industry ,RIVAROXABAN ,PHASE 3 CLINICAL TRIAL ,medicine.disease ,Clinical trial ,CONTROLLED STUDY ,THROMBOSIS ,Clinical research ,DEFINITION ,Multicenter study ,PRESCHOOL CHILD ,HEPARIN ,MULTICENTER STUDY ,INFANT ,business ,Venous thromboembolism ,TREATMENT OUTCOME ,030215 immunology - Abstract
Contains fulltext : 219893.pdf (Publisher’s version ) (Closed access) BACKGROUND: Treatment of venous thromboembolism in children is based on data obtained in adults with little direct documentation of its efficacy and safety in children. The aim of our study was to compare the efficacy and safety of rivaroxaban versus standard anticoagulants in children with venous thromboembolism. METHODS: In a multicentre, parallel-group, open-label, randomised study, children (aged 0-17 years) attending 107 paediatric hospitals in 28 countries with documented acute venous thromboembolism who had started heparinisation were assigned (2:1) to bodyweight-adjusted rivaroxaban (tablets or suspension) in a 20-mg equivalent dose or standard anticoagulants (heparin or switched to vitamin K antagonist). Randomisation was stratified by age and venous thromboembolism site. The main treatment period was 3 months (1 month in children /=1 dose), were centrally assessed by investigators who were unaware of treatment assignment. Repeat imaging was obtained at the end of the main treatment period and compared with baseline imaging tests. This trial is registered with ClinicalTrials.gov, number NCT02234843 and has been completed. FINDINGS: From Nov 14, 2014, to Sept 28, 2018, 500 (96%) of the 520 children screened for eligibility were enrolled. After a median follow-up of 91 days (IQR 87-95) in children who had a study treatment period of 3 months (n=463) and 31 days (IQR 29-35) in children who had a study treatment period of 1 month (n=37), symptomatic recurrent venous thromboembolism occurred in four (1%) of 335 children receiving rivaroxaban and five (3%) of 165 receiving standard anticoagulants (hazard ratio [HR] 0.40, 95% CI 0.11-1.41). Repeat imaging showed an improved effect of rivaroxaban on thrombotic burden as compared with standard anticoagulants (p=0.012). Major or clinically relevant non-major bleeding in participants who received >/=1 dose occurred in ten (3%) of 329 children (all non-major) receiving rivaroxaban and in three (2%) of 162 children (two major and one non-major) receiving standard anticoagulants (HR 1.58, 95% CI 0.51-6.27). Absolute and relative efficacy and safety estimates of rivaroxaban versus standard anticoagulation estimates were similar to those in rivaroxaban studies in adults. There were no treatment-related deaths. INTERPRETATION: In children with acute venous thromboembolism, treatment with rivaroxaban resulted in a similarly low recurrence risk and reduced thrombotic burden without increased bleeding, as compared with standard anticoagulants. FUNDING: Bayer AG and Janssen Research & Development. 01 januari 2020
- Published
- 2020
- Full Text
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46. 1167 Atrial strain predicts exercise capacity in patients with the fontan circulation
- Author
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J P Cordeiro Rato Mesquita Da Silva, S Cordeiro Mendes, Rui Anjos, and Duarte Martins
- Subjects
Atrial strain ,medicine.medical_specialty ,business.industry ,Internal medicine ,medicine ,Cardiology ,Radiology, Nuclear Medicine and imaging ,In patient ,General Medicine ,Exercise capacity ,Cardiology and Cardiovascular Medicine ,business ,Fontan circulation - Abstract
Funding Acknowledgements None Introduction Atrial function has recently emerged as a valuable parameter, particularly for evaluation of ventricular diastolic dysfunction and heart failure. There is a strong need for reliable echocardiographic predictors of exercise capacity in univentricular hearts, but their particular anatomy makes it challenging. In this work we aimed to characterize the relationship between atrial strain and exercise parameters in the Fontan population. Methods Fontan patients followed in our outpatient clinic were prospectively evaluated with cardiopulmonary exercise test and transthoracic echocardiogram. The dominant atrium, i.e. the atrium connected to the dominant atrioventricular valve, was assessed with speckle-tracking echocardiography for active (εact), conduit (εcon), and reservoir (εres) strain; and εact/εres ratio. A single cardiac loop from the 4 chamber view was selected for this analysis and the ‘zero’ strain reference for atrial deformation analysis was set at the onset of the electrocardiogram P wave. Exercise capacity defined as the percentage of peak oxygen uptake (VO2), comparing with predicted values, was chosen as the dependent variable. Independent variables were selected among clinical and echocardiographic data. Statistical analysis was performed using SPSS version 23. T-student test was used for binomial and continuous variable correlation; single and multivariable linear regression was used for continuous variable correlation. Statistical significance was defined as p-value < 0.05. Results Fifty-two Fontan patients were assessed. Nineteen (37%) were excluded due to inadequate deformation tracking of the atrial wall. Mean age was 18.0 years (SD 6.9, min. 10.0 - max. 36.0), mean age at Fontan surgery was 7.0 years (SD 2.9, min. 3.0 – max. 18.0). Peak VO2 as a percentage of the predicted value was 66.5% (SD 18.8, min. 36.4 – max. 118.6). εact was -11.1% (SD 3.7, min. -21.1 – max. -4.8), εcon was 10.6% (SD 6.5, min. -0.5 – max. 6.5), εres was 21.7% (SD 5.2, min. 13.2 – max. 34.4) and εact/εres ratio was 0.54 (SD 0.23, min. 0.22 – max. 1.04). On univariate analysis, all atrial strain variables correlated with peak VO2. After adjusting for collinearity, multivariable regression defined age (estimate -1.6, 95% CI: -2.5 to -0.9, p-value < 0.001) and εact strain (estimate 1.8, 95% CI: 0.5 to 3.2, p-value = 0.011) as the strongest predictors of peak VO2 (r2= 0.479). Conclusion Peak VO2 defines exercise capacity and is a strong marker of prognosis in Fontan patients. There are very few echocardiographic variables capable of predicting it, in part due to a variable cardiac anatomy. We showed that atrial strain rate is a novel echocardiographic parameter that predicts peak VO2. In the Fontan circulation, a higher reliance on active atrial contraction for ventricular filling predicts lower exercise capacity. Therefore, atrial strain rate, whenever measurable, may provide a new method of risk stratification in this population. Abstract 1167 Figure. Example of atrial strain curve.
- Published
- 2020
47. Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration
- Author
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Patrícia Mendes, Luís Pereira de Almeida, Joana B. Melo, Isabel M. Carreira, José António Belo, Duarte Martins, Rui Anjos, Fernando Cristo, José Maio, Graça Rosas, José M. Inácio, NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), and Centro de Estudos de Doenças Crónicas (CEDOC)
- Subjects
Heart Defects, Congenital ,Male ,0301 basic medicine ,Heart disease ,Induced Pluripotent Stem Cells ,Karyotype ,Mutation, Missense ,Germ layer ,Embryoid body ,Biology ,Cell Line ,03 medical and health sciences ,SDG 3 - Good Health and Well-being ,medicine ,Humans ,Missense mutation ,Child ,Induced pluripotent stem cell ,lcsh:QH301-705.5 ,Gene ,Transcription factor ,Embryoid Bodies ,Genetics ,Cell Differentiation ,Cell Biology ,General Medicine ,Cellular Reprogramming ,medicine.disease ,3. Good health ,030104 developmental biology ,lcsh:Biology (General) ,Cancer research ,Intercellular Signaling Peptides and Proteins ,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 Jardimfor 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. Publisher 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. publishersversion published
- Published
- 2017
48. Coronary artery bypass grafting in a child with Kawasaki disease
- Author
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Nuno Carvalho, Pedro Magro, José Neves, and Rui Anjos
- Subjects
medicine.medical_specialty ,Doença de Kawasaki ,business.industry ,Aneurisma coronário ,medicine.medical_treatment ,Anterior Descending Coronary Artery ,medicine.disease ,Revascularization ,Thrombosis ,Stenosis ,Coronary artery bypass surgery ,Aneurysm ,Internal medicine ,Right coronary artery ,medicine.artery ,RC666-701 ,Cardiology ,Enxerto de bypass de artéria coronária ,Medicine ,Diseases of the circulatory (Cardiovascular) system ,General Earth and Planetary Sciences ,Kawasaki disease ,Cardiology and Cardiovascular Medicine ,business ,General Environmental Science - 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
49. 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.
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- 2017
50. The role of three-dimensional computed tomography angiography in accurate characterization of multiple pulmonary stenosis
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Rita Marinheiro, Rui Anjos, Inês Carmo Mendes, and Duarte Martins
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medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,General Medicine ,Clinical Cardiology ,medicine.disease ,Stenosis ,Internal medicine ,medicine ,Cardiology ,Radiology ,Cardiology and Cardiovascular Medicine ,business ,Peripheral pulmonary stenosis ,Computed tomography angiography - Published
- 2020
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