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http://hdl.handle.net/10400.17/2

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Browsing CAR - Artigos by Author "Abecasis, J"

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  • Case Report: Mutation in NPPA Gene As a Cause of Fibrotic Atrial Myopathy
    Publication . Silva Cunha, P; Antunes, D; Laranjo, S; Coutinho, A; Abecasis, J; Oliveira, MM
    Early-onset atrial fibrillation (AF) can be the manifestation of a genetic atrial myopathy. However, specific genetic identification of a mutation causing atrial fibrosis is rare. We report a case of a young patient with an asymptomatic AF, diagnosed during a routine examination. The cardiac MRI revealed extensive atrial fibrosis and the electrophysiology study showed extensive areas of low voltage. The genetic investigation identified a homozygous pathogenic variant in the NPPA gene in the index case and the presence of the variant in heterozygosity in both parents.
    2023Journal article Open access Show more
  • Documento de Consenso Sobre Codificação de Exames de Ressonância Magnética Cardíaca em Portugal
    Publication . Ferreira, AM; Almeida, AG; Oliveira, L; Bettencourt, N; Marques, H; Matos, P; Abecasis, J; Abreu, J; Alpendurada, F; Botelho, A; Campos, P; Castela, S; Cunha, D; Donato, P; Ferreira, MJ; Rocha Lopes, L; Pinho, T; Sá, I; Saraiva, C; Jalles, N; Themudo, R
    Um dos obstáculos a uma utilização 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 recomendações para a atualização e uniformização dos códigos empregues na RMC. São igualmente feitas recomendações quanto às técnicas e códigos a utilizar nas indicações clínicas mais frequentes.
    2013Journal article Open access Show more
  • Understanding Cardiac Myxoma Recurrence: A Case Report
    Publication . Carvalho, MS; Andrade, MJ; Abecasis, J; Gouveia, R; Branco, LM; Neves, JP; Mendes, M
    Recurrence of cardiac myxoma is a rare condition, observed in about 3% of patients in sporadic cases, although it is more frequent in familial ones. Several mechanisms have been proposed to explain such recurrence, and the importance of increased vascularization as a facilitating feature is the subject of debate. The authors report the case of a non-familial right atrial myxoma, unusual for both its histopathology and recurrence.
    2013Journal article Open access Show more