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


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.


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


  1. 1.
    Nakao S, Takenaka T, Maeda M, et al. An atypical variant of Fabry’s disease in men with left ventricular hypertrophy. N Engl J Med. 1995;333:288–93.CrossRefPubMedGoogle Scholar
  2. 2.
    Richardson P, McKenna W, Bristow M, et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the definition and classification of cardiomyopathies. Circulation. 1996;93:841–2.CrossRefPubMedGoogle Scholar
  3. 3.
    Schiffmann R, Kopp JP, Austin HA 3rd, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA. 2001;285:2743–9.CrossRefPubMedGoogle Scholar
  4. 4.
    Nakatani S, Akaishi M, Asanuma T, et al. Guidelines from the Japanese society of echocardiography: guidance for the management and maintenance of echocardiography equipment. J Echocardiogr. 2015;13:1–5.CrossRefPubMedGoogle Scholar
  5. 5.
    Masson C, Cissé I, Simon V, et al. Fabry disease: a review. Joint Bone Spine. 2004;71:381–3.CrossRefPubMedGoogle Scholar
  6. 6.
    Kampmann C, Baehner F, Whybra C, et al. Cardiac manifestations of Anderson–Fabry disease in heterozygous females. J Am Coll Cardiol. 2002;40:1668–74.CrossRefPubMedGoogle Scholar
  7. 7.
    Chimenti C, Pieroni M, Morgante E, et al. Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy. Circulation. 2004;110:1047–53.CrossRefPubMedGoogle Scholar
  8. 8.
    Desnick RJ, Banikazemi M, Wasserstein M. Enzyme replacement therapy for Fabry disease, an inherited nephropathy. Clin Nephrol. 2002;57:1–8.CrossRefPubMedGoogle Scholar
  9. 9.
    Shah JS, Hughes DA, Sachdev B, et al. Prevalence and clinical significance of cardiac arrhythmia in Anderson–Fabry disease. Am J Cardiol. 2005;96:842–6.CrossRefPubMedGoogle Scholar
  10. 10.
    Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry outcome survey. Eur J Invest. 2004;34:236–42.CrossRefGoogle Scholar
  11. 11.
    Takenaka T, Teraguchi H, Yoshida A, et al. Terminal stage cardiac findings in patients with cardiac Fabry disease: an electrocardiographic, echocardiographic, and autopsy study. J Cardiol. 2008;51:50–9.CrossRefPubMedGoogle Scholar
  12. 12.
    Namdar M, Steffel J, Vidovic M, et al. Electrocardiographic changes in early recognition of Fabry disease. Heart. 2011;97:485–90.CrossRefPubMedGoogle Scholar
  13. 13.
    Hoigné P, Attenhofer Jost CH, Duru F, et al. Simple criteria for differentiation of Fabry disease from amyloid heart disease and other causes of left ventricular hypertrophy. Int J Cardiol. 2006;111:413–22.CrossRefPubMedGoogle Scholar
  14. 14.
    Sachdev B, Takenaka T, Teraguchi H, et al. Prevalence of Anderson–Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation. 2002;105:1407–11.CrossRefPubMedGoogle Scholar
  15. 15.
    Monserrat L, Gimeno-Blanes JR, Marín F, et al. Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2007;50:2399–403.CrossRefPubMedGoogle Scholar
  16. 16.
    Wu JC, Ho CY, Skali H, et al. Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity. Eur Heart J. 2010;31:1088–97.CrossRefPubMedPubMedCentralGoogle Scholar
  17. 17.
    Geske JB, Jouni H, Aubry MC, Gersh BJ. Fabry disease with resting outflow obstruction masquerading as hypertrophic cardiomyopathy. J Am Coll Cardiol. 2014;63:e43.CrossRefPubMedGoogle Scholar
  18. 18.
    Pieroni M, Chimenti C, DeCobelli F, et al. Fabry’s disease cardiomyopathy: echocardiographic detection of endomyocardial glycosphingolipid compartmentalization. J Am Coll Cardiol. 2006;47:1663–71.CrossRefPubMedGoogle Scholar
  19. 19.
    Kounas S, Demetrescu C, Pantazis AA, et al. The binary endocardial appearance is a poor discriminator of Anderson–Fabry disease from familial hypertrophic cardiomyopathy. J Am Coll Cardiol. 2008;51:2058–61.CrossRefPubMedGoogle Scholar
  20. 20.
    Mundigler G, Gaggl M, Heinze G, et al. The endocardial binary appearance (‘binary sign’) is an unreliable marker for echocardiographic detection of Fabry disease in patients with left ventricular hypertrophy. Eur J Echocardiogr. 2011;12:744–9.CrossRefPubMedGoogle Scholar
  21. 21.
    Pieroni M, Chimenti C, Ricci R, et al. Early detection of Fabry cardiomyopathy by tissue Doppler imaging. Circulation. 2003;107:1978–84.CrossRefPubMedGoogle Scholar
  22. 22.
    Shanks M, Thompson RB, Paterson ID, et al. Systolic and diastolic function assessment in Fabry disease patients using speckle-tracking imaging and comparison with conventional echocardiographic measurements. J Am Soc Echocardiogr. 2013;26:1407–14.CrossRefPubMedGoogle Scholar
  23. 23.
    Niemann M, Herrmann S, Hu K, et al. Differences in Fabry cardiomyopathy between female and male patients: consequences for diagnostic assessment. JACC Cardiovasc Imaging. 2011;4:592–601.CrossRefPubMedGoogle Scholar
  24. 24.
    Boyd AC, Lo Q, Devine K, et al. Left atrial enlargement and reduced atrial compliance occurs early in Fabry cardiomyopathy. J am Soc Echocardiogr. 2013;26:1415–23.CrossRefPubMedGoogle Scholar
  25. 25.
    Nagueh SF. Anderson–Fabry disease and other lysosomal storage disorders. Circulation. 2014;130:1081–90.CrossRefPubMedGoogle Scholar
  26. 26.
    Nieman M, Breunig F, Beer M, et al. The right ventricle in Fabry disease: natural history and impact of enzyme replacement therapy. Heart. 2010;96:1915–9.CrossRefGoogle Scholar
  27. 27.
    Kawano M, Takenaka T, Otsuji Y, et al. Significance of asymmetric basal posterior wall thinning in patients with cardiac Fabry’s disease. Am J Cardiol. 2007;99:261–3.CrossRefPubMedGoogle Scholar
  28. 28.
    Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human alpha-galactosidase A—replacement therapy in Fabry’s disease. N Engl J Med. 2001;345(1):9–16.CrossRefPubMedGoogle Scholar
  29. 29.
    Weidemann F, Niemann Breunig F, et al. Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation. 2009;119:524–9.CrossRefPubMedGoogle Scholar
  30. 30.
    Weidemann F, Breunig F, Beer M, et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation. 2003;108:1299–301.CrossRefPubMedGoogle Scholar

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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