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- Clinical features and natural history of PRKAG2 Variant Cardiac GlycogenosisPublication . Lopez-Sainz, Angela; Dominguez, Fernando; Rocha Lopes, Luis; Pablo Ochoa, Juan; Barriales-Villa, Roberto; Climent, Vicente; Linschoten, Marijke; Tiron, Coloma; Chiriatti, Chiara; Marques, Nuno; Rasmussen, Torsten B.; Angeles Espinosa, Maria; Beinart, Roy; Quarta, Giovanni; Cesar, Sergi; Field, Ella; Garcia-Pinilla, Jose M.; Bilinska, Zofia; Muir, Alison R.; Roberts, Angharad M.; Santas, Enrique; Zorio, Esther; Luisa Pena-Pena, Maria; Navarro, Marina; Fernandez, Adrian; Palomino-Doza, Julian; Azevedo, Olga; Lorenzini, Massimiliano; Garcia-Alvarez, Maria I.; Bento, Dina; Jensen, Morten K.; Mendez, Irene; Pezzoli, Laura; Sarquella-Brugada, Georgia; Campuzano, Oscar; Gonzalez-Lopez, Esther; Mogensen, Jens; Pablo Kaski, Juan; Arad, Michael; Brugada, Ramon; Asselbergs, Folkert W.; Monserrat, Lorenzo; Olivotto, Iacopo; Elliott, Perry M.; Garcia-Pavia, PabloBACKGROUND PRKAG2 gene variants cause a syndrome characterized by cardiomyopathy, conduction disease, and ventricular pre-excitation. Only a small number of cases have been reported to date, and the natural history of the disease is poorly understood. OBJECTIVES The aim of this study was to describe phenotype and natural history of PRKAG2 variants in a large multicenter European cohort. METHODS Clinical, electrocardiographic, and echocardiographic data from 90 subjects with PRKAG2 variants (53% men; median age 33 years; interquartile range [IQR]: 15 to 50 years) recruited from 27 centers were retrospectively studied. RESULTS At first evaluation, 93% of patients were in New York Heart Association functional class I or II. Maximum left ventricular wall thickness was 18 +/- 8 mm, and left ventricular ejection fraction was 61 +/- 12%. Left ventricular hypertrophy (LVH) was present in 60 subjects (67%) at baseline. Thirty patients (33%) had ventricular pre-excitation or had undergone accessory pathway ablation; 17 (19%) had pacemakers (median age at implantation 36 years; IQR: 27 to 46 years), and 16 (18%) had atrial fibrillation (median age 43 years; IQR: 31 to 54 years). After a median follow-up period of 6 years (IQR: 2.3 to 13.9 years), 71% of subjects had LVH, 29% had AF, 21% required de novo pacemakers (median age at implantation 37 years; IQR: 29 to 48 years), 14% required admission for heart failure, 8% experienced sudden cardiac death or equivalent, 4% required heart transplantation, and 13% died. CONCLUSIONS PRKAG2 syndrome is a progressive cardiomyopathy characterized by high rates of atrial fibrillation, conduction disease, advanced heart failure, and life-threatening arrhythmias. Classical features of pre-excitation and severe LVH are not uniformly present, and diagnosis should be considered in patients with LVH who develop atrial fibrillation or require permanent pacemakers at a young age. (c) 2020 the American College of Cardiology Foundation. Published by Elsevier. All rights reserved.
- Generation and cardiac differentiation of a human induced pluripotent stem cell line UALGi002-A from a female patient with Left-Ventricular Noncompaction CardiomyopathyPublication . Calado, Sofia; Bento, Dina; Marques, Nuno; Bragança, JoséLeft Ventricular Noncompaction Cardiomyopathy (LVNC) is characterized by abnormal number and prominence of trabeculations of the left ventricle of the heart. Although LVNC has been associated with mutations in several genes encoding for transcriptional regulators, ion channels, sarcomeric and mitochondrial proteins, approximately 60% of LVNC patients do not present these genetic alterations. Here, we describe an induced pluripotent stem cell (hiPSC) line (UALGi002-A) originated from a LVNC female patient (LVNC-hiPSC) who does not present any previously known mutations associated to LVNC. The LVNC-hiPSC exhibited full pluripotency and differentiation potential and retained a normal karyotype after reprogramming. Moreover, the LVNC-hiPSC differentiated into contracting cardiomyocytes. This cellular model will be useful to study the molecular, genetic and functional aspects of LVNC in vitro.
- Generation of a human induced pluripotent stem cell line (UALGi001-A) from a patient with Left-Ventricular Noncompaction CardiomyopathyPublication . Calado, Sofia; Bento, Dina; Justino, David; Mendes-Silva, Leonardo; Marques, Nuno; Bragança, JoséLeft Ventricular Noncompaction Cardiomyopathy (LVNC) is characterized by excessive trabeculation of the left ventricle. To date, mutations in more than 40 genes have been associated with LVNC, however the exact mechanisms underlying the disease remain unknown. Here, we describe an induced pluripotent stem cell (iPSC) line (UALGi001-A) from a LVNC patient (LVNC-iPSC) that does not present mutations in the genes most commonly associated with the disease (van Waning et al., 2019). The LVNC-iPSC exhibited full pluripotency and differentiation potential, and retained a normal karyotype after reprogramming. This in vitro cellular model will be useful to study the molecular, genetic and functional aspects of LVNC.
- p.G360R is a pathogenic GLA gene mutation responsible for a classic phenotype of Fabry diseasePublication . Carvalho Silva, Daniela; Marques, Nuno; Azevedo, Olga; Miltenberger-Miltenyi, Gabriel; Bento, Dina; Guedes, Joao; Azevedo, Pedro; Bispo, Joao; Mota, Teresa; Fernandes, Raquel; Nzwalo, Hipólito; Cabrita, Ana; Ramos, André; de Jesus, IlidioThe authors report the case of a classic phenotype of Fabry disease in a 60-year-old male patient presenting with left ventricular hypertrophy and stroke. Genetic analysis revealed 2 GLA-gene variants, i.e., p.R356Q and p.G360R. This clinical case highlights that the finding of 2 or more GLA gene variants in a Fabry patient should lead to a careful evaluation in order to determine their exact role in the condition. This case also provides the first clinical evidence that the p.G360R mutation is pathogenic and responsible for a classic phenotype of Fabry disease. The clinical improvement following the initiation of enzyme replacement therapy reinforces the importance of Fabry disease awareness and diagnosis in patients exhibiting red flags, such as left ventricular hypertrophy and stroke.
- Portuguese recommendations for the management of transthyretin amyloid cardiomyopathy (Part 1 of 2): screening, diagnosis and treatment. Developed by the task force on the management of transthyretin amyloid cardiomyopathy of the working group on myocardial and pericardial diseases of the portuguese society of cardiologyPublication . Marques, Nuno; Rosa, Sílvia Aguiar; Cordeiro, Filipa; Fernandes, Raquel Menezes; Ferreira, Catarina; Bento, Dina; Brito, Dulce; Cardim, Nuno; Lopes, Luís; Azevedo, OlgaThe Portuguese recommendations for the management of transthyretin amyloid cardiomyopathy (ATTR-CM) evaluate and summarize the available evidence and provide evidence-based recommendations on the best management of patients with ATTR-CM. These recommendations represent the official position of the Working Group on Myocardial and Pericardial Diseases (WGMPD) of the Portuguese Society of Cardiology. The Portuguese WGMPD selected the members of this Task Force as expert professionals involved in the care of patients with this disease. The Task Force performed a critical evaluation of the available evidence on the diagnostic procedures and therapeutic options for ATTR-CM, including an assessment of risk-benefit ratios. The strength of every recommendation and its level of evidence were weighed and scored according to predefined scales, usually those used by the European Society of Cardiology (ESC) in their guidelines, as outlined below in Tables 1 and 2. This Task Force followed voting procedures, and all approved recommendations were subject to a vote and achieved at least 75% agreement among voting members. The experts of the writing panels provided declaration of interest forms for all relationships that might be perceived as actual or potential sources of conflicts of interest. These recommendations were developed without any financial support or involvement of the healthcare industry. The Portuguese WGMPD supervised and coordinated the preparation of these recommendations and was responsible for the approval process. After appropriate revisions, the recommendations were signed off by all the experts involved in the Task Force. The WGMPD submitted the final document for publication in the official journal of the Portuguese Society of Cardiology, Revista Portuguesa de Cardiologia (Portuguese Journal of Cardiology). The recommendations were developed after careful consideration of the scientific knowledge and evidence available at the time of writing. Tables of recommendations are provided in this document along with the corresponding class of recommendation and level of evidence for each statement. Specific areas on which there are uncertainties concerning the existing evidence for the recommendation were also identified. The Task Force members carried out systematic reviews of the literature on these topics, which will be provided in separate publications. These recommendations do not override the individual responsibility of health professionals to make appropriate and accurate decisions in consideration of each individual patient’s health condition.
- Sindrome coronária aguda sem supradesnivelamento do segmento ST – abordagem pré hospitalarPublication . Fernandes, Raquel Menezes; Bento, Dina; Mimoso, Jorge; Jesus, IlídioO eletrocardiograma (ECG) de 12 derivações é o exame complementar de diagnóstico inicial de maior relevância num doente que se apresenta com dor torácica aguda e persistente. Se se documentar elevação persistente do segmento-ST, cumprindo critérios diagnósticos de Enfarte Agudo do Miocárdio com supradesnivelamento do segmento-ST, está indicada a terapêutica de reperfusão imediata. Já o diagnóstico de Síndrome coronária aguda sem supradesnivelamento do segmento-ST (SCA-SST) requer um elevado nível de suspeição, com base na apresentação clínica do doente, na presença de fatores de risco e de alterações eletrocardiográficas. Se suspeita clínica de SCA-SST, deverá administrar-se 300 mg de ácido acetilsalicílico, iniciar terapêutica antianginosa e transportar o doente monitorizado até ao Serviço de Urgência para ser submetido a avaliação adicional. Não está recomendada a administração de inibidor P2Y12 ou de anticoagulação em contexto pré-hospitalar, devendo ser reservados para o momento do diagnóstico definitivo de SCA-SST. Caso o doente mantenha dor torácica recorrente ou sinais de instabilidade clínica apesar da terapêutica instituída, deverá repetir-se ECG e, na presença de alterações dinâmicas do segmento-ST, contactar-se o Serviço de Cardiologia da área para internamento e eventual realização de coronariografia emergente.
- Specific therapy for transthyretin cardiac amyloidosis: a systematic literature review and evidence‐based recommendationsPublication . Marques, Nuno; Azevedo, Olga; Almeida, Ana Rita; Bento, Dina; Cruz, Inês; Correia, Emanuel; Lourenço, Carolina; Lopes, Luís RochaBackground The emergence of specific therapies for transthyretin cardiac amyloidosis (CA) warrants the need for a systematic review of the literature. Methods and Results A systematic review of the literature was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A systematic search was performed on MEDLINE, PubMed, and Embase databases on November 29, 2019. Studies were selected based on the following predefined eligibility criteria: English-language randomized controlled trials (RCTs), non-RCTs, or observational studies, which included adult patients with variant/wild-type transthyretin-CA, assessed specific therapies for transthyretin-CA, and reported cardiovascular outcomes. Relevant data were extracted to a predefined template. Quality assessment was based on National Institute for Health and Care Excellence recommendations (RCTs) or a checklist by Downs and Black (non-RCTs). From 1203 records, 24 publications were selected, describing 4 RCTs (6 publications) and 16 non-RCTs (18 publications). Tafamidis was shown to significantly improve all-cause mortality and cardiovascular hospitalizations and reduce worsening in 6-minute walk test, Kansas City Cardiomyopathy Questionnaire-Overall Summary score, and NT-proBNP (N-terminal pro-B-type natriuretic peptide) in variant/wild-type transthyretin-CA. Patisiran showed promising results in a subgroup analysis of patients with variant transthyretin-CA, which have to be confirmed in RCTs. Inotersen showed conflicting results on cardiac imaging parameters. The one study on AG10 had only a 1-month duration and cardiovascular end points were exploratory and limited to cardiac biomarkers. Limited evidence from noncomparative single-arm small non-RCTs existed for diflunisal, epigallocatechin-3-gallate (green tea extract), and doxycycline+tauroursodeoxycholic acid/ursodeoxycholic acid. Conclusions This systematic review of the literature supports the use of tafamidis in wild-type and variant transthyretin-CA. Novel therapeutic targets including transthyretin gene silencers are currently under investigation.
- Women vs. men in takotsubo cardiomyopathyPublication . Margarida Oliveira, M.; Bento, Dina; Santos, R.; Vieira, M. J.; Antunes, H.; Reis, L.; Ruivo, C.; Faria, R.; Marreiros, Ana; Almeida, A. R.Takotsubo cardiomyopathy (TCM) is a cardiac syndrome characterized by transient left ventricular dysfunction in the absence of coronary artery disease. It usually affects postmenopausal women but it can also affect men. Differences between genders regarding TCM are still not clearly defned.