Browsing by Author "Azevedo, Olga"
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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.
- 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.
- Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: how to guide the diagnostic strategy?Publication . Azevedo, Olga; Marques, Nuno; Reis, Liliana; Cruz, Inês; Craveiro, Nuno; Antunes, Hugo; Lourenço, Carolina; Gomes, Renata; Guerreiro, Rui Azevedo; Faria, Ricardo; Sá, Fernando; Lima, Rui; Gaspar, Paulo; Faria, Rui; Miltenberger-Miltenyi, Gabriel; Sousa, Nuno; Cunha, DamiãoFabry disease (FD) is a treatable cause of hypertrophic cardiomyopathy (HCM). We aimed to determine the independent predictors of FD and to define a clinically useful strategy to discriminate FD among HCM.
- Screening for Fabry disease in patients with left ventricular noncompactionPublication . Azevedo, Olga; Marques, Nuno; Craveiro, Nuno; Pereira, Ana Rita; Antunes, Hugo; Reis, Liliana; Guerreiro, Rui Azevedo; Pontes dos Santos, Rui; Miltenberger-Miltenyi, Gabriel; Sousa, Nuno; Cunha, DamiãoIt is unclear whether left ventricular noncompaction (LVNC) is a distinct cardiomyopathy or a morphologic manifestation of different cardiomyopathies. We previously reported a case of LVNC in a Fabry disease (FD) patient, but it remains to be clarified whether LVNC is a cardiac manifestation of FD, a coincidental finding or an overdiagnosis, which has major therapeutic implications. This study aims to determine the prevalence of FD among patients with LVNC.
- 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.