Please use this identifier to cite or link to this item: http://hdl.handle.net/1822/62006

TitleMild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry Disease
Author(s)Azevedo, Olga
Gago, Miguel
Miltenberger-Miltenyi, Gabriel
Gaspar, Paulo
Sousa, Nuno
Cunha, Damião
KeywordsAdult
Codon, Nonsense
Echocardiography
Fabry Disease
Female
Heterozygote
Humans
Hypertrophy, Left Ventricular
Male
Middle Aged
Pedigree
Phenotype
Sex Factors
Young Adult
alpha-Galactosidase
Nonsense
Mutation
Classical phenotype
GLA gene
Left ventricular hypertrophy
Issue date2017
PublisherKarger Publishers
JournalCardiology
CitationAzevedo, O., Gago, M., Miltenberger-Miltenyi, G., et. al. (2017). Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry Disease. Cardiology, 137(2), 67-73.
Abstract(s)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.
TypeArticle
URIhttp://hdl.handle.net/1822/62006
DOI10.1159/000455117
ISSN0008-6312
e-ISSN1421-9751
Publisher versionhttps://www.karger.com/Article/Abstract/455117
Peer-Reviewedyes
AccessRestricted access (Author)
Appears in Collections:ICVS - Artigos em Revistas Internacionais com Referee

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