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Cardiac Anderson-Fabry disease : lessons from a 25-year-follow up

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Detalhes bibliográficos
Resumo:Sarcomeric hypertrophic cardiomyopathy (HCM) is the most common genetic cause of unexplained left ventricular hypertrophy and has no specific treatment. Anderson-Fabry disease (AFD) is rare and usually multisystemic, but occasionally expresses clinically as a predominantly cardiac phenotype mimicking HCM. We describe an illustrative case of a patient followed regularly for 25 years with a diagnosis of familial HCM and no identified sarcomeric mutations. Next-generation sequencing analysis identified a novel pathogenic mutation in the GLA gene, leading to a diagnosis of previously unknown multisystemic AFD, with consequent implications for the patient's treatment and prognosis and familial screening.
Autores principais:Brito, Dulce
Outros Autores:Miltenberger-Miltenyi, Gabriel; Moldovan, Oana; Navarro, Carmen; Madeira, Hugo Costa
Assunto:Hypertrophic cardiomyopathy Anderson-Fabry disease Next-generation sequencing
Ano:2014
País:Portugal
Tipo de documento:artigo
Tipo de acesso:acesso restrito
Instituição associada:Universidade de Lisboa
Idioma:inglês
Origem:Repositório da Universidade de Lisboa

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