{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T02:58:59Z","timestamp":1792897139633,"version":"4.5.0"},"reference-count":24,"publisher":"BMJ","issue":"23","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Heart"],"accepted":{"date-parts":[[2011,7,26]]},"published-print":{"date-parts":[[2011,12,1]]},"abstract":"<jats:sec>\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>The prevalence of Anderson\u2013Fabry 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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design, Setting and Patients<\/jats:title>\n                  <jats:p>A European multicentre cross-sectional study involving 13 referral centres. Inclusion criteria for the study were: men aged at least 35\u2005years and women aged at least 40\u2005years with unexplained LVH (maximum left ventricular wall thickness \u22651.5\u2005cm). All patients were screened using a denaturing high-performance liquid chromatography protocol for rapid mutation screening of the \u03b1-galactosidase A (\u03b1-Gal A) gene and, if a sequence variant was found, direct sequencing was performed. 1386 patients (63.9% men, mean age 57.9\u00b112.0\u2005years) were enrolled in the study.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Seven (0.5%) patients (age 57.4\u00b19.0\u2005years (45\u201372); three (43%) men) had pathogenic \u03b1-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\u00b12\u2005mm (range 15\u201322); four patients had concentric LVH and the remainder had asymmetric septal hypertrophy.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The prevalence of AFD gene mutations in a large, consecutive cohort of European patients with unexplained LVH is 0.5%.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/heartjnl-2011-300364","type":"journal-article","created":{"date-parts":[[2011,9,3]],"date-time":"2011-09-03T02:30:27Z","timestamp":1315017027000},"page":"1957-1960","source":"Crossref","is-referenced-by-count":173,"title":["Prevalence of Anderson\u2013Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson\u2013Fabry Disease 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