Screening for Fabry Disease in Left Ventricular Hypertrophy:
Documentation of a Novel Mutation |
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Authors: | Ana Baptista Pedro Magalh?es Sílvia Le?o Sofia Carvalho Pedro Mateus Ilídio Moreira |
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Institution: | Centro Hospitalar de Trás-os-Montes e Alto Douro, Unidade de Vila Real - Portugal |
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Abstract: | BackgroundFabry 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.ObjectiveTo estimate the prevalence of Fabry disease in a population with left ventricular
hypertrophy.MethodsThe 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.ResultsA 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.ConclusionIn 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). |
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Keywords: | Fabry disease / complications Hypertrophy left ventricular Alpha-Galactosidase / genetics |
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