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Heart. 2011 Dec;97(23):1957-60. doi: 10.1136/heartjnl-2011-300364. Epub 2011 Sep 2.

Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease survey.

Author information

1
he Heart Hospital, University College London, London, UK. perry.elliott@ucl.ac.uk

Abstract

OBJECTIVES:

The prevalence of Anderson-Fabry disease (AFD) in patients presenting with unexplained left ventricular hypertrophy (LVH) is controversial. The aim of this study was to determine the prevalence of AFD in a large, consecutive cohort of patients with hypertrophic cardiomyopathy (HCM) using rapid mutation screening.

DESIGN, SETTING AND PATIENTS:

A European multicentre cross-sectional study involving 13 referral centres. Inclusion criteria for the study were: men aged at least 35 years and women aged at least 40 years with unexplained LVH (maximum left ventricular wall thickness ≥ 1.5 cm). All patients were screened using a denaturing high-performance liquid chromatography protocol for rapid mutation screening of the α-galactosidase A (α-Gal A) gene and, if a sequence variant was found, direct sequencing was performed. 1386 patients (63.9% men, mean age 57.9 ± 12.0 years) were enrolled in the study.

RESULTS:

Seven (0.5%) patients (age 57.4 ± 9.0 years (45-72); three (43%) men) had pathogenic α-galactosidase A mutations. Polymorphisms were identified in 283 patients (20.4%). Maximal left ventricular wall thickness in patients carrying a disease-causing mutation was 18 ± 2 mm (range 15-22); four patients had concentric LVH and the remainder had asymmetric septal hypertrophy.

CONCLUSIONS:

The prevalence of AFD gene mutations in a large, consecutive cohort of European patients with unexplained LVH is 0.5%.

PMID:
21890869
DOI:
10.1136/heartjnl-2011-300364
[Indexed for MEDLINE]

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