September 2, 2011Heart
Prevalence of Anderson–Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson–Fabry Disease Survey
Key result
The prevalence of pathogenic α-galactosidase A mutations in a large European cohort of patients with unexplained left ventricular hypertrophy was 0.5%.
Why the study?
What is the prevalence of Anderson-Fabry disease in patients with unexplained left ventricular hypertrophy?
Population
1386 patients with unexplained left ventricular hypertrophy, mean age 57.9, 63.9% men.
Design
Cross-sectional
Authors
Discussion
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Member takes
Implication
Does not support routine screening for Anderson-Fabry disease in unexplained LVH; leaves open optimal testing strategies and regional variation.
Study Design
Type
Cross-Sectional (n=1,386)
Multicenter
Yes
Structured PICO
What is the prevalence of Anderson-Fabry disease in patients with unexplained left ventricular hypertrophy?
P
Population
1,386 patients (men ≥35 years, women ≥40 years) with unexplained left ventricular hypertrophy screened for Anderson-Fabry disease.
E
Exposure
Rapid mutation screening of the α-galactosidase A (α-Gal A) gene using denaturing high-performance liquid chromatography and direct sequencing
O
Outcome
Prevalence of pathogenic α-galactosidase A mutations (Anderson-Fabry disease)surrogate
The prevalence of Anderson-Fabry disease in European patients with unexplained left ventricular hypertrophy is very low (0.5%).
Cite This Study
Elliott et al. (2011) conducted a cross-sectional in hypertrophic cardiomyopathy with unexplained left ventricular hypertrophy (n=1,386). Pathogenic α-galactosidase A mutations was evaluated on Prevalence of pathogenic α-galactosidase A mutations. The prevalence of pathogenic α-galactosidase A mutations in a large European cohort of patients with unexplained left ventricular hypertrophy was 0.5%.