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CLINICAL RESEARCH: CARDIOMYOPATHY

Prevalence of Fabry Disease in a Cohort of 508 Unrelated Patients With Hypertrophic Cardiomyopathy

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^¶,||

^_* Complejo Hospitalario Universitario Juan Canalejo, A Coruña, Spain
Hospital Virgen de la Arrixaca, Murcia, Spain
Hospital General de Alicante, Alicante, Spain
Hospital Clinic, Barcelona, Spain
^|| Fundación Jiménez Díaz, Autónoma University, Madrid, Spain
^¶ Red Temática de Investigación Cardiovascular (RECAVA)-Instituto Salud Carlos III, Madrid, Spain.

Manuscript received February 12, 2007; revised manuscript received May 25, 2007, accepted June 5, 2007.

^_* Reprint requests and correspondence: Dr. Lorenzo Monserrat, Cardiology Service, Complejo Hospitalario Universitario Juan Canalejo, As Xubias 84, A Coruña 15006, Spain. (Email: lorenzo_monserrat{at}canalejo.org).

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 -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 GLA gene.

Results: We found low plasma activity in 15 patients (3%). Three men had GLA mutations (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.

Abbreviations and Acronyms   FD = Fabry disease   HCM = hypertrophic cardiomyopathy

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