title: Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy.
abstract: The prevalence of Fabry disease (FD) in Japanese patients presenting with unexplained left ventricular hypertrophy (LVH) has remained unclear.
  
  
  
  We measured plasma α-galactosidase A activity in 177 men with a diagnosis of hypertrophic cardiomyopathy (HCM) (maximum LV wall thickness ≥15mm).
  
  
  
  Two patients (1.1%) showed very low α-galactosidase A activity [0.0 and 0.3nmol/hr/ml (normal range: 3.6-17.6nmol/hr/ml)], and a clinical diagnosis of cardiac variant of FD was finally made. One patient was a 55-year-old man who came to our hospital because of abnormal results of electrocardiography and showed concentric LVH in echocardiography. A missense mutation, R112L, was identified. The other was a 74-year-old man who had been diagnosed with HCM at the age of 60 years in another hospital and was referred for evaluation of repeated hospitalization for heart failure. Although echocardiography revealed asymmetric septal hypertrophy (ASH) with interventricular septal wall thickness of 16mm and posterior wall thickness of 11mm and reduced LV ejection fraction with hypokinetic posterior wall motion, his echocardiographic findings at the initial diagnosis of HCM were not ASH but concentric LVH with normal LV systolic function. A splicing mutation, IVS4+919G>A, was identified.
  
  
  
  The prevalence of FD in Japanese male patients with a clinical diagnosis of HCM was found to be 1.1%. These patients showed late onset and concentric LVH at initial presentation.
authors.affiliation: Department of Cardiology, Neurology and Aging Science, Kochi Medical School, Kochi University, Kochi, Japan. Electronic address: jm-kubotoru@kochi-u.ac.jp.
authors.forename: Toru
authors.initials: T
authors.lastname: Kubo
authors.affiliation: Department of Cardiology, Neurology and Aging Science, Kochi Medical School, Kochi University, Kochi, Japan.
authors.forename: Yuri
authors.initials: Y
authors.lastname: Ochi
authors.affiliation: Department of Cardiology, Neurology and Aging Science, Kochi Medical School, Kochi University, Kochi, Japan.
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Baba
authors.affiliation: Department of Cardiology, Neurology and Aging Science, Kochi Medical School, Kochi University, Kochi, Japan.
authors.forename: Takayoshi
authors.initials: T
authors.lastname: Hirota
authors.affiliation: Department of Cardiology, Neurology and Aging Science, Kochi Medical School, Kochi University, Kochi, Japan.
authors.forename: Katsutoshi
authors.initials: K
authors.lastname: Tanioka
authors.affiliation: Department of Cardiology, Neurology and Aging Science, Kochi Medical School, Kochi University, Kochi, Japan.
authors.forename: Naohito
authors.initials: N
authors.lastname: Yamasaki
authors.affiliation: Division of Cardiac Repair and Regeneration, Graduate School of Medicine and Dental Sciences, Kagoshima University, Kagoshima, Japan.
authors.forename: Makoto
authors.initials: M
authors.lastname: Yoshimitsu
authors.affiliation: Division of Cardiac Repair and Regeneration, Graduate School of Medicine and Dental Sciences, Kagoshima University, Kagoshima, Japan.
authors.forename: Koji
authors.initials: K
authors.lastname: Higuchi
authors.affiliation: Division of Cardiac Repair and Regeneration, Graduate School of Medicine and Dental Sciences, Kagoshima University, Kagoshima, Japan.
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Takenaka
authors.affiliation: Department of Dermatology, Kochi Medical School, Kochi University, Kochi, Japan.
authors.forename: Kimiko
authors.initials: K
authors.lastname: Nakajima
authors.affiliation: Department of Functional Bioanalysis, Meiji Pharmaceutical University, Tokyo, Japan.
authors.forename: Tadayasu
authors.initials: T
authors.lastname: Togawa
authors.affiliation: Department of Functional Bioanalysis, Meiji Pharmaceutical University, Tokyo, Japan.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Tsukimura
authors.affiliation: Department of Dermatology, Kochi Medical School, Kochi University, Kochi, Japan.
authors.forename: Shigetoshi
authors.initials: S
authors.lastname: Sano
authors.affiliation: Division of Cardiac Repair and Regeneration, Graduate School of Medicine and Dental Sciences, Kagoshima University, Kagoshima, Japan.
authors.forename: Chuwa
authors.initials: C
authors.lastname: Tei
authors.affiliation: Department of Clinical Genetics, Meiji Pharmaceutical University, Tokyo, Japan.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Sakuraba
authors.affiliation: Department of Cardiology, Neurology and Aging Science, Kochi Medical School, Kochi University, Kochi, Japan.
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Kitaoka
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002312:Cardiomyopathy, Hypertrophic / Q000209:etiology / Q000473:pathology; D004452:Echocardiography; D004562:Electrocardiography; D000795:Fabry Disease / Q000150:complications* / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000473:pathology*; D006333:Heart Failure / Q000209:etiology / Q000473:pathology; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000201:enzymology / Q000453:epidemiology* / Q000209:etiology / Q000473:pathology*; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D015995:Prevalence; D055815:Young Adult; D000519:alpha-Galactosidase / Q000097:blood
chemical_list: D000519:alpha-Galactosidase
keywords: Fabry disease; Hypertrophic cardiomyopathy; Prevalence