Author + information
- Received February 12, 2007
- Revision received May 25, 2007
- Accepted June 5, 2007
- Published online December 18, 2007.
- Lorenzo Monserrat, MD⁎,¶,1,⁎ (, )
- Juan Ramón Gimeno-Blanes, MD†,¶,
- Francisco Marín, MD‡,¶,
- Manuel Hermida-Prieto, PhD⁎,¶,
- Antonio García-Honrubia, MD‡,
- Inmaculada Pérez, BS†,
- Xusto Fernández, MD⁎,
- Rosario de Nicolas, MD∥,
- Gonzalo de la Morena, MD†,¶,
- Eduardo Payá, MD‡,
- Jordi Yagüe, PhD§ and
- Jesús Egido, MD¶∥
- ↵⁎Reprint requests and correspondence:
Dr. Lorenzo Monserrat, Cardiology Service, Complejo Hospitalario Universitario Juan Canalejo, As Xubias 84, A Coruña 15006, Spain.
Objectives We aimed to study the prevalence of Fabry disease (FD) in patients with hypertrophic cardiomyopathy (HCM).
Background There are limited and controversial data about the prevalence of FD in patients with HCM.
Methods We screened the plasma α-galactosidase A activity from 508 unrelated patients with HCM (328 men, 180 women, ages 58 ± 16 years). Patients with low activity (0% to 30% of the normal control in men, and 0% to 50% in women) underwent genetic study of the GLAgene.
Results We found low plasma activity in 15 patients (3%). Three men had GLAmutations (0.9%): S238N (novel) in 2 and E358del (described) in 1. Two women had described mutations (1.1%): L89P and A143T. Three unrelated men had the D313Y variant previously associated with enzyme pseudo-deficiency. Two women had polymorphisms that did not segregate with the disease in their families. Five women (activitiy 39% to 47%) had no sequence variants. The familial studies allowed the diagnosis of 14 carriers: 6 women without Fabry manifestations, 3 women with cardiomyopathy, 2 men with renal and cardiac disease, 1 man with microhematuria, 1 woman with first-degree atrioventricular block, and a 32-year-old woman with only renal disease.
Conclusions By means of a screening based on genotyping of patients with low plasma enzymatic activity, the prevalence of FD in our population of HCM is 1% (0.9% in men and 1.1% in women). This diagnosis is relevant, because it allows the identification of disease carriers that might benefit from enzyme replacement therapy.
↵1 Dr. Monserrat is funded by a research grant from the Sanofi-Aventis Foundation.
This study was supported by the Red Temática de Investigación Cardiovascular (RECAVA) of the Instituto de Salud Carlos III, Madrid, Spain.
- Received February 12, 2007.
- Revision received May 25, 2007.
- Accepted June 5, 2007.
- American College of Cardiology Foundation