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Case Reports in Cardiology
Volume 2018 (2018), Article ID 6131083, 5 pages
Case Report

Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation

1Department for Cardiovascular Disease, Osijek University Hospital, J. Huttlera 4, 31000 Osijek, Croatia
2Department for Internal Medicine, Faculty of Medicine Osijek, Josip Juraj Strossmayer University of Osijek, Cara Hadrijana 10E, 31000 Osijek, Croatia

Correspondence should be addressed to K. Selthofer-Relatic; moc.liamg@citaler.refohtles

Received 4 January 2018; Revised 28 January 2018; Accepted 10 February 2018; Published 20 March 2018

Academic Editor: Assad Movahed

Copyright © 2018 K. Selthofer-Relatic. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Background. Anderson-Fabry disease is an X-linked inherited disease, which manifests in a different manner depending on gender and genotype. Making a working diagnosis of Anderson-Fabry disease is difficult because of several reasons: (a) that it is a multiorgan disease with wide variety of phenotypes, (b) different timelines of presentation, (c) gender differences, and (d) possible coexistence with other comorbidities. Late-onset/cardiac type of presentation with minimal involvement of other organs can additionally make diagnosis difficult. Aim. To describe different cardiac manifestations at different time points in the course of the disease: (1) 72-year-old female (echocardiography detection), heterozygote, significant left and mild right ventricular hypertrophy; (2) 62-year-old male (echocardiography detection), hemizygote, left ventricular hypertrophy, implanted cardiac pacemaker, a performed percutaneous coronary intervention after myocardial infarction, degenerative medium degree aortic valve stenosis; (3) 45-year-old female (asymptomatic/family screening), heterozygote, thickened mitral papillary muscle, mild left ventricular hypertrophy, first degree diastolic dysfunction; and (4) 75-year-old female (symptomatic/family screening), heterozygote, cardiomyopathy with reduced left ventricular ejection fraction after heart surgery (mitral valve annuloplasty and plastic repair of the tricuspid valve). Conclusion. All patients have Anderson-Fabry disease but with different clinical presentations depending on the gender, the type of mutation, and the time of detection. All these features can make the patients’ profiles unique and delay the time of detection.