Encyclopedia of Heart Diseases

2011 Edition
| Editors: M. Gabriel Khan

Anderson-Fabry Disease

Reference work entry
DOI: https://doi.org/10.1007/978-1-60761-219-3_8

Overview

Studies have suggested that between 2% and 4% of individuals fulfilling conventional echocardiographic criteria for hypertrophic  cardiomyopathy (HCM) have Anderson-Fabry disease (AFD); a rare, inborn X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-Gal) (Nakao et al. 1995; Sachdev et al. 2002).
  • Wu et al. (2010), from a study, noted that concentric left ventricular  hypertrophy was the predominant cardiac pathology seen in patients with Fabry disease, and was prevalent even in females <20 years of age.

  • Cardiac involvement can cause arrhythmias and rarely aortic regurgitation.

  • The most common cause of death in males and females is renal and cardiac failure, respectively.

  • Stroke may occur.

  • Noncardiac and renal manifestations include: cutaneous angiokeratomas (pinpoint, purplish-cherry spots) on the trunk, and occasionally on the lips and penis.

  • Corneal dystrophy, lenticular opacities, and anhidrosis are not uncommon findings ( Echocardiography...

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Bibliography

References

  1. Beer M, Weidemann F, Breunig F et al (2006) Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry’s cardiomyopathy. Am J Cardiol 97:1515–1518PubMedGoogle Scholar
  2. Kampmann C, Baehner F, Whybra C et al (2002) Cardiac manifestations of Anderson Fabry disease in heterozygous females. J Am Coll Cardiol 40:1668–1674PubMedGoogle Scholar
  3. Kounas S, Elliott P (2009) Binary sign in Anderson-Fabry cardiomyopathy; reply. J Am Coll Cardiol 53:814–815Google Scholar
  4. Kounas S, Demetrescu C, Pantazis AA et al (2008) The binary endocardial appearance is a poor discriminator of Anderson-Fabry disease from familial hypertrophic cardiomyopathy. J Am Coll Cardiol 51:2058–2061PubMedGoogle Scholar
  5. Nakao S, Takenaka T, Maeda M et al (1995) An atypical variant of Fabry’s disease in men with left ventricular hypertrophy. N Engl J Med 333:288–293PubMedGoogle Scholar
  6. Pieroni M, Crea F (2009) Binary Sign in Anderson-Fabry Cardiomyopathy. J Am Coll Cardiol 53:813–814PubMedGoogle Scholar
  7. Sachdev B, Takenaka T, Teraguchi H et al (2002) Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 105:1407–1411PubMedGoogle Scholar
  8. Wu JC, Ho CY, Skali H et al (2010) Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and {alpha}-galactosidase A activity. Eur Heart J ehp588v1Google Scholar

Suggested Reading

  1. Ackerman MJ, Landstrom AP (2007) Detection of subclinical Fabry disease in patients presenting with hypertrophic cardiomyopathy. J Am Coll Cardiol 50(25):2404–2405PubMedGoogle Scholar
  2. Germain AP, Waldek S, Banikazemi M et al (2007) Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 18(5):1547–1557PubMedGoogle Scholar
  3. Lin H-Y, Chong K-W, Hsu J-H et al (2009) High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population. Circ Cardiovasc Genet 2(5):450–456PubMedGoogle Scholar
  4. Linhart A, Kampmann C, Zamorano JL et al and on behalf of European FOS Investigators (2007) Cardiac manifestations of Anderson–Fabry disease: results from the international Fabry outcome survey. Eur Heart JGoogle Scholar
  5. Schiffmann R, Warnock DG, Banikazemi M et al (2009) J. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 24(7):2102–2111PubMedGoogle Scholar
  6. Wozniak MA, Kittner SJ, Tuhrim S et al (2010) Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke. Stroke 41(1):78–81PubMedGoogle Scholar

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