Journal of Echocardiography

, Volume 15, Issue 4, pp 151–157 | Cite as

Fabry disease

  • Toshinori Yuasa
  • Toshihiro Takenaka
  • Koji Higuchi
  • Nami Uchiyama
  • Yoshihisa Horizoe
  • Hideto Cyaen
  • Naoko Mizukami
  • Kunitsugu Takasaki
  • Akira Kisanuki
  • Masaaki Miyata
  • Mitsuru Ohishi
Review Article
  • 367 Downloads

Abstract

Fabry disease resulting from a deficiency of α-galactosidase A leads to the accumulation of globotriaosylceramide in various organs. Because the disease is an X-linked recessive disorder, males tend to develop more symptoms and more severe symptoms than females. There are also some variants of Fabry disease, and cardiac variant (cardiac Fabry disease) has the dysfunctions only in heart. Cardiac manifestations in Fabry disease are initially symmetrical and concentric left ventricular hypertrophy, and later progressive cardiac dysfunction with localized thinning of the basal posterior wall. In recent years, enzyme replacement therapy has been performed as a treatment for Fabry disease, and the initiation of this therapy is expected before the cardiac fibrosis develops. Therefore, early diagnosis of Fabry disease is essential, and echocardiography is an indispensable tool for clinical practice of this disease. Then, it is necessary to remember this disease as a differential diagnosis when encountering unexplained left ventricular hypertrophy.

Keywords

Fabry disease α-Galactosidase A Left ventricular hypertrophy Enzyme replacement therapy 

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Copyright information

© Japanese Society of Echocardiography 2017

Authors and Affiliations

  • Toshinori Yuasa
    • 1
  • Toshihiro Takenaka
    • 2
  • Koji Higuchi
    • 1
  • Nami Uchiyama
    • 1
  • Yoshihisa Horizoe
    • 1
  • Hideto Cyaen
    • 1
  • Naoko Mizukami
    • 3
  • Kunitsugu Takasaki
    • 1
  • Akira Kisanuki
    • 4
  • Masaaki Miyata
    • 1
  • Mitsuru Ohishi
    • 1
  1. 1.Department of Cardiovascular Medicine and Hypertension, Graduate School of Medical and Dental SciencesKagoshima UniversityKagoshimaJapan
  2. 2.Department of Internal MedicineTarumizu Chuo HospitalTarumizuJapan
  3. 3.Clinical LaboratoryKagosima University HospitalKagoshimaJapan
  4. 4.Department of Health ScienceKagoshima University Faculty of MedicineKagoshimaJapan

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