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Screening for Fabry disease in patients with left ventricular noncompaction

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Detalhes bibliográficos
Resumo:It 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.
Autores principais:Azevedo, Olga
Outros Autores:Marques, Nuno; Craveiro, Nuno; Pereira, Ana Rita; Antunes, Hugo; Reis, Liliana; Guerreiro, Rui Azevedo; Miltenberger-Miltenyi, Gabriel; Sousa, Nuno; Cunha, Damião
Assunto:Fabry disease Noncompaction Hypertrabeculation Cardiomyopathy Screening Doença de Fabry Não compactação Hipertrabeculação Cardiomiopatia Rastreio
Ano:2019
País:Portugal
Tipo de documento:artigo
Tipo de acesso:acesso aberto
Instituição associada:Universidade do Minho
Idioma:inglês
Origem:RepositóriUM - Universidade do Minho
Descrição
Resumo:It 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.