Screening for Fabry Disease in Left Ventricular Hypertrophy: Documentation of a Novel Mutation
Data(s) |
01/08/2015
|
---|---|
Resumo |
AbstractBackground:Fabry disease is a lysosomal storage disease caused by enzyme α-galactosidase A deficiency as a result of mutations in the GLA gene. Cardiac involvement is characterized by progressive left ventricular hypertrophy.Objective:To estimate the prevalence of Fabry disease in a population with left ventricular hypertrophy.Methods:The patients were assessed for the presence of left ventricular hypertrophy defined as a left ventricular mass index ≥ 96 g/m2 for women or ≥ 116 g/m2 for men. Severe aortic stenosis and arterial hypertension with mild left ventricular hypertrophy were exclusion criteria. All patients included were assessed for enzyme α-galactosidase A activity using dry spot testing. Genetic study was performed whenever the enzyme activity was decreased.Results:A total of 47 patients with a mean left ventricular mass index of 141.1 g/m2 (± 28.5; 99.2 to 228.5 g/m2] were included. Most of the patients were females (51.1%). Nine (19.1%) showed decreased α-galactosidase A activity, but only one positive genetic test − [GLA] c.785G>T; p.W262L (exon 5), a mutation not previously described in the literature. This clinical investigation was able to establish the association between the mutation and the clinical presentation.Conclusion:In a population of patients with left ventricular hypertrophy, we documented a Fabry disease prevalence of 2.1%. This novel case was defined in the sequence of a mutation of unknown meaning in the GLA gene with further pathogenicity study. Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5). |
Formato |
text/html |
Identificador |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2015002100139 |
Idioma(s) |
en |
Publicador |
Sociedade Brasileira de Cardiologia - SBC |
Fonte |
Arquivos Brasileiros de Cardiologia v.105 n.2 2015 |
Palavras-Chave | #Fabry disease / complications #Hypertrophy, left ventricular #Alpha-Galactosidase / genetics |
Tipo |
journal article |