9 documents found, page 1 of 1
Fabry disease therapy: State-of-the-art and current challenges
Azevedo, Olga; Gago, Miguel Fernandes; Miltenberger-Miltenyi, Gabriel; Sousa, Nuno; Cunha, DamiãoFabry disease (FD) is a lysosomal storage disorder caused by mutations of the <i>GLA</i> gene that lead to a deficiency of the enzymatic activity of α-galactosidase A. Available therapies for FD include enzyme replacement therapy (ERT) (agalsidase alfa and agalsidase beta) and the chaperone migalastat. Despite the large body of literature published about ERT over the years, many issues remain unresolved, such a...
Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: how t...
Azevedo, Olga; Marques, Nuno; Reis, Liliana; Cruz, Inês; Craveiro, Nuno; Antunes, Hugo; Lourenço, Carolina; Gomes, Renata; Guerreiro, Rui AzevedoFabry 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 noncompaction
Azevedo, Olga; Marques, Nuno; Craveiro, Nuno; Pereira, Ana Rita; Antunes, Hugo; Reis, Liliana; Guerreiro, Rui Azevedo; Miltenberger-Miltenyi, GabrielIt 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...
Screening for Fabry disease in patients with left ventricular noncompaction
Azevedo, Olga; Marques, Nuno; Craveiro, Nuno; Pereira, Ana Rita; Antunes, Hugo; Reis, Liliana; Guerreiro, Rui Azevedo; Pontes dos Santos, RuiIt 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...
Inner ear involvement in Fabry disease: Clinical and audiometric evaluation of ...
Rodrigues, Jorge; Azevedo, Olga; Sousa, Nuno; Cunha, Damião; Mexedo, Alexandre; Fonseca, RuiFabry disease (FD) is a lysosomal storage disorder (LSD) that involves the cochleovestibular system. Tinnitus and progressive sensorineural hearing loss are frequent complains. A stabilization of hearing function has been reported with enzyme replacement therapy (ERT). This study aims to characterize the inner ear involvement, identify factors associated to hearing loss and evaluate the effect of ERT on the hea...
Biomarkers of myocardial fibrosis: Revealing the natural history of fibrogenesi...
Aguiar, Patrício; Azevedo, Olga; Pinto, Rui; Marino, Jacira; Cardoso, Carlos; Sousa, Nuno; Cunha, Damião; Hughes, Derralynn; Ducla Soares, José LuísCardiomyopathy is a major determinant of overall Fabry disease (FD) prognosis, with the worst outcomes in patients with myocardial fibrosis. Late gadolinium enhancement is currently the gold standard for evaluation of replacement myocardial fibrosis; however, this event is irreversible, thus identification of biomarkers of earlier diffuse fibrosis is paramount.
Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA...
Azevedo, Olga; Gago, Miguel; Miltenberger-Miltenyi, Gabriel; Gaspar, Paulo; Sousa, Nuno; Cunha, DamiãoWe report on the clinical, biochemical, and genetic findings of a large family with the classical phenotype of Fabry disease due to the novel nonsense mutation c.607G>T (p.E203X) of the GLA gene, which occurs in the active site of the α-galactosidase A enzyme. This report highlights that (i) Fabry disease diagnosis should be considered in all cases of unexplained left ventricular hypertrophy (LVH), even in its ...
Documento de consenso sobre codificação de exames de ressonância magnética card...
Ferreira, António Miguel da Cruz; Almeida, Ana G; Oliveira, Luís; Bettencourt, Nuno; Marques, Hugo; Matos, Pedro; Abecasis, João; Abreu, JoãoUm dos obstáculos a uma utilizac¸ão mais frequente e apropriada da ressonância magnética cardíaca (RMC) em Portugal tem sido a ausência de códigos específicos que descrevam adequadamente os exames tal como são efetuados actualmente. Este documento de consenso fornece recomendac¸ões para a atualizac¸ão e uniformizac¸ão dos códigos empregues na RMC. São igualmente feitas recomendac¸ões quanto às técnicas e código...
Documento de consenso sobre codificação de exames de ressonância magnética card...
Ferreira, António Miguel; Almeida, Ana G.; Oliveira, Luís; Bettencourt, Nuno; Marques, Hugo; Matos, Pedro; Abecasis, João; Abreu, JoãoOne of the obstacles to more frequent and appropriate use of cardiac magnetic resonance (CMR) in Portugal has been the lack of specific codes that accurately describe these examinations as they are currently performed. In this consensus document, recommendations are made for updating and standardizing CMR codes in Portugal. Guidance on which techniques and codes should be used in the most common clinical scenar...