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Screening for Fabry disease in left ventricular hypertrophy: documentation of a novel mutation
Ana Baptista1, Pedro Magalhães1, Sílvia Leão1
1Unidade de Vila Real, Centro Hospitalar de Trás-os-Montes e Alto Douro, PT.
Insights
Fabry disease, a genetic condition causing enzyme deficiency, affects the heart. This study found a 2.1% prevalence of Fabry disease in patients with left ventricular hypertrophy, identifying a new GLA gene mutation.
Area of Science:
- Cardiology
- Genetics
- Rare Diseases
Background:
- Fabry disease is a lysosomal storage disorder due to alpha-galactosidase A deficiency, linked to GLA gene mutations.
- Cardiac manifestations include progressive left ventricular hypertrophy.
Purpose of the Study:
- To determine the prevalence of Fabry disease within a cohort of patients diagnosed with left ventricular hypertrophy.
Main Methods:
- Left ventricular hypertrophy was defined by specific left ventricular mass index criteria.
- Exclusion criteria included severe aortic stenosis and hypertension with mild hypertrophy.
- Alpha-galactosidase A activity was measured via dry spot testing, with genetic analysis for decreased enzyme activity.
Main Results:
- 47 patients with left ventricular hypertrophy were included; 19.1% exhibited reduced alpha-galactosidase A activity.
- A novel GLA gene mutation, c.785G>T; p.W262L (exon 5), was identified in one patient.
- The study confirmed the association between this mutation and the clinical presentation.
Conclusions:
- A prevalence of 2.1% for Fabry disease was observed in the studied population with left ventricular hypertrophy.
- A novel causal mutation in the GLA gene, [GLA] c.785G>T; p.W262L, was identified and characterized.
Background:
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).
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