Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/5478
Título: Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry Disease
Autor: Azevedo, Olga
Gago, Miguel
Miltenberger-Miltenyi, Gabriel
Gaspar, Paulo
Sousa, Nuno
Cunha, Damião
Palavras-chave: Classical Phenotype
Fabry Disease
GLA Gene
Left Ventricular Hypertrophy
Mutation
Nonsense
Doenças Genéticas
Data: 3-Fev-2017
Editora: Karger Publishers
Citação: Cardiology. 2017;137(2):67-73. doi: 10.1159/000455117. Epub 2017 Feb 3.
Resumo: We 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 milder forms; (ii) a complete evaluation of patients with unexplained LVH is important to find diagnostic red flags of treatable causes of LVH, such as Fabry disease; (iii) cascade family screening is paramount to the earlier diagnosis and treatment of other affected family members; and (iv) the Fabry disease phenotype is highly variable in heterozygote females, even within the same family.
Peer review: yes
URI: http://hdl.handle.net/10400.18/5478
DOI: 10.1159/000455117
Versão do Editor: https://www.karger.com/Article/Abstract/455117
Aparece nas colecções:DGH - Artigos em revistas internacionais

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