CLINICAL RESEARCH: CARDIOMYOPATHY
Prevalence of Fabry Disease in a Cohort of 508 Unrelated Patients With Hypertrophic Cardiomyopathy
Lorenzo Monserrat, MD*,¶,*,
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.
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Abbreviations and Acronyms
| | FD = Fabry disease | | HCM = hypertrophic cardiomyopathy |
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