Interní Med. 2018; 20(5): 233-236 [Interv Akut Kardiol. 2018;17(2):67-70]

Cardiologic evaluation in Fabry disease

MUDr. Lubor Goláň
II. interní klinika kardiologie a angiologie, 1. LF UK a VFN, Praha

Fabry disease is an inherited metabolic storage disease. The majority of patients present with heart involvement that is typicallymanifested as myocardial hypertrophy. Successful treatment requires a correct diagnosis and thorough evaluation which, inaddition to patient history and physical examination, also involves ECG, echocardiography, and magnetic resonance imaging.Enzyme replacement therapy is a specific type of treatment.

Keywords: storage disease, Fabry disease, left ventricular hypertrophy, enzyme replacement therapy

Published: December 1, 2018  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
Goláň L. Cardiologic evaluation in Fabry disease. Interní Med. 2018;20(5):233-236.
Share...
Download citation
  • BibTeX (.bib)
  • Bookends (.ris)
  • EasyBib (.ris)
  • EndNote (.enw)
  • EndNote 8 (.xml)
  • ISI WoS (.isi)
  • Medlars (.medlars)
  • Mendeley (.ris)
  • MODS (.xml)
  • Papers (.ris)
  • RefWorks (.txt)
  • RefManager (.ris)
  • RIS (.ris)
  • MS Word (.xml)
  • Zotero (.ris)
    • Open full article

    References

    1. O'Mahony C, Elliot P. Anderson-Fabry disease and the heart Prog Cardiovasc Dis. 2010; 52(4): 326-335. Go to original source...
    2. Merta M, Reiterová J, Ledvinová J, et al. A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population. Nephrol Dial Transplant. 2007; 22(1): 179-186. Go to original source...
    3. Spada M, Pagliardini S, Yasuda M, et al. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet. 2006; 79(1):31-40. Go to original source...
    4. Mechtler TP, Stary S, Metz TF, et al. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet. 2012; 379(9813): 335-341. Go to original source...
    5. Lin HY, Chong KW, Hus JH, Yu HC, et al. High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population. Circ Cardiovasc Genet. 2009; 2(5): 450-456. Go to original source... Go to PubMed...
    6. Linhart A, Paleček T, Bultas J, et al. New insights in cardiac structural changes in patients with Fabry's disease. American Heart Journal, 2000; 139(6): 1101-1108. Go to original source... Go to PubMed...
    7. Sachdev B, Takenaka T, Teraguchi H, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation. 2002; 105: 1407-1411. Go to original source...
    8. 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: 288-293. Go to original source...
    9. Paleček T, Honzíková J, Poupětová H, et al. Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS). J Inherit Metab Dis 2014; 37: 455-460. Go to original source... Go to PubMed...
    10. Kubo T, et al. Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy. Journal of Cardiology 2017; 69: 302-307. Go to original source... Go to PubMed...
    11. Elliot P, Baker R, Pasquale F, et al. ACES study group. Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease survey. Heart 2011; 97(23): 1957-1960. Go to original source...
    12. Krämer J, Niemann M, Störk S, Frantz S, Beer M, Ertl G, Wanner C, Weidemann F. Relation of burden of myocardial fibrosis to malignant ventricular arrhythmias and outcomes in Fabry disease. Am J Cardiol. 2014; 114(6): 895-900. Go to original source...
    13. Nagano T, Nakatsuka S, Fujita S, et al. Myocardial fibrosis pathology in Anderson-Fabry disease: Evaluation of autopsy cases in the long - and short-term enzyme replacement therapy, and non-therapy case IJC Metabolic & Endocrine 2016; 12: 46-51. Go to original source...
    14. Shah JS, Hughes DA, Sachdev B, et al. Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. Am J Cardiol. 2005; 96(6): 842-846. Go to original source...
    15. Orteu CH, Jansen T, Lidove O, et al. Fabry disease and the skin.: data from FOS, the Fabry outcome survey. Br J Dermatol 2007; 157: 331-337. Go to original source...
    16. Rolfs A, Bottche T, Zschiesche M, et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospeciv study. Lancet 2005; 366: p. 1794-1796. Go to original source...
    17. Pieroni M, Chimenti C, Ricci R, Sale P, Russo MA, Frustaci A. Early detection of Fabry cardiomyopathy by tissue Doppler imaging. Circulation. 2003; 107(15): 1978-1984. Go to original source...
    18. Lobo T, Morgan J, Bjorksten A, Nicholls K, Grigg L, Centra E, Becker G, Cardiovascular testing in Fabry disease: exercise capacity reduction, chronotropic incompetence and improved anaerobic threshold after enzyme replacement. Intern Med J. 2008; 38(6): 407-414. doi: 10.1111/j.1445-5994.2008.01669.x. Go to original source...
    19. Krämer J, Weidemann F. Biomarkers for diagnosing and staging of Fabry disease. Curr Med Chem. 2017 Jun 16.
    20. Chamoles N, Blanco M, Gaglioli D, Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta, 2001; 308(1-2): 195-196. Go to original source... Go to PubMed...
    21. 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: 9-16. Go to original source...
    22. Banikazemi M, Bultas J, Waldek S, et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 2007; 146: 77-86. Go to original source...
    23. Schiffmann R, Kopp JB, Austin 3rd HA, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001; 285: 2743-2749. Go to original source... Go to PubMed...

    Return to the content


    Internal Medicine for Practice

    Madam, Sir,
    please be aware that the website on which you intend to enter, not the general public because it contains technical information about medicines, including advertisements relating to medicinal products. This information and communication professionals are solely under §2 of the Act n.40/1995 Coll. Is active persons authorized to prescribe or supply (hereinafter expert).
    Take note that if you are not an expert, you run the risk of danger to their health or the health of other persons, if you the obtained information improperly understood or interpreted, and especially advertising which may be part of this site, or whether you used it for self-diagnosis or medical treatment, whether in relation to each other in person or in relation to others.

    I declare:

    1. that I have met the above instruction
    2. I'm an expert within the meaning of the Act n.40/1995 Coll. the regulation of advertising, as amended, and I am aware of the risks that would be a person other than the expert input to these sites exhibited

    No
    Yes

    If your statement is not true, please be aware
    that brings the risk of danger to their health or the health of others.