Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation

Case Reports in Cardiology
K Selthofer-Relatic

Abstract

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. 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), hete...Continue Reading

References

Apr 16, 2005·European Heart Journal·Heiko MahrholdtRaymond J Kim
May 8, 2007·European Heart Journal·Ales LinhartUNKNOWN European FOS Investigators
Nov 27, 2007·Molecular Genetics and Metabolism·William R WilcoxUNKNOWN Fabry Registry
Jun 24, 2008·International Journal of Cardiology·Christoph KampmannMichael Beck
Oct 23, 2008·Lancet·Yuri A Zarate, Robert J Hopkin
Feb 17, 2009·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Raphael SchiffmannRobert J Desnick
Nov 26, 2010·Orphanet Journal of Rare Diseases·Dominique P Germain
Jun 18, 2011·JACC. Cardiovascular Imaging·Markus NiemannFrank Weidemann
Jun 28, 2012·European Heart Journal·Zaheer YousefFrank Weidemann
Jan 28, 2014·European Journal of Heart Failure·Sven MeyerMaarten P van den Berg
Apr 6, 2016·Frontiers in Cardiovascular Medicine·Mehdi Namdar
Dec 10, 2016·Journal of the American College of Cardiology·Ting-Rong HsuDau-Ming Niu

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Methods Mentioned

BETA
biopsy

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