Anderson-Fabry disease and the heart

Progress in Cardiovascular Diseases
Constantinos O'Mahony, Perry Elliott

Abstract

Anderson-Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations of the GLA gene that encodes alpha-galactosidase A. The ensuing enzyme deficiency results in intracellular accumulation of neutral glycosphingolipids (primarily globotriaosylceramide) and progressive renal, cardiac, and cerebrovascular disease. Female carriers are at risk of developing disease, but this tends to be milder and more slowly progressive than in males. Left ventricular hypertrophy is the most common cardiac manifestation followed by conduction system disease, valve dysfunction, and arrhythmias. Management of cardiovascular symptoms and the prevention of complications rely on conventional pharmacologic and device-based therapies, but data on the effect of enzyme replacement therapy suggest that it has the potential to attenuate and possibly reverse some aspects of cardiac involvement.

References

Jan 26, 1999·JAMA : the Journal of the American Medical Association·P J MeikleW F Carey
Apr 5, 2001·European Heart Journal·P R RijnbeekJ A Kors
May 18, 2001·Current Opinion in Cardiology·M HiranoS DiMauro
Jun 21, 2001·JAMA : the Journal of the American Medical Association·R SchiffmannR O Brady
Jan 7, 2004·Journal of Inherited Metabolic Disease·F BaehnerM Beck
Mar 18, 2004·European Journal of Clinical Investigation·A MehtaM Beck
Aug 19, 2004·Current Opinion in Cardiology·Maurizio PieroniAndrea Frustaci
Oct 2, 2004·Kidney International·Gabor E LinthorstJohannes M F G Aerts
Dec 21, 2004·European Journal of Clinical Investigation·M BeckA Mehta
Jan 28, 2005·The New England Journal of Medicine·Michael AradJ G Seidman
Mar 19, 2005·Human Mutation·Ellen SchäferAndreas Gal
May 18, 2005·Acta Paediatrica. Supplement·C KampmannM Beck
May 18, 2005·Acta Paediatrica. Supplement·D A Hughes, A B Mehta
May 18, 2005·Acta Paediatrica. Supplement·E SchaeferA Gal
Jun 30, 2005·Neurology·Gheona AltarescuRaphael Schiffmann
Sep 20, 2005·The American Journal of Cardiology·Jaymin S ShahPerry M Elliott
Feb 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Markus RiesDonna Krasnewich
Apr 8, 2006·Journal of Inherited Metabolic Disease·A C VedderC E M Hollak
Apr 8, 2006·Journal of Inherited Metabolic Disease·R J KalliokoskiP Nuutila
Apr 13, 2006·Kidney International·F BreunigC Wanner
May 25, 2006·Acta Paediatrica. Supplement·Esther M MaierAnia C Muntau
Mar 17, 2007·Journal of the Neurological Sciences·David F MooreRaphael Schiffmann
Mar 30, 2007·Acta Paediatrica. Supplement·Scott C Garman
Apr 3, 2007·Heart·Ales Linhart, Perry M Elliott
May 8, 2007·European Heart Journal·Ales LinhartUNKNOWN European FOS Investigators
Jun 19, 2007·The British Journal of Dermatology·C H OrteuUNKNOWN FOS Investigators
Dec 25, 2007·Journal of the American College of Cardiology·Lorenzo MonserratJesús Egido
Mar 28, 2008·Acta Paediatrica·Christoph KampmannMichael Beck
May 24, 2008·Journal of the American College of Cardiology·Stavros KounasPerry Mark Elliott
Oct 7, 2008·Journal of the American Society of Echocardiography : Official Publication of the American Society of Echocardiography·Tomas PalecekAles Linhart
Nov 11, 2008·Journal of Inherited Metabolic Disease·T KovarnikA Linhart

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Citations

Jan 1, 2010·BMJ Case Reports·Filippo Maria CautiAntonis Pantazis
Feb 2, 2011·BMC Cardiovascular Disorders·Christian TanislavNicole Sieweke
Mar 15, 2014·PloS One·Andreas FeustelChristian Tanislav
Sep 4, 2010·Journal of Cardiovascular Medicine·Luisa MestroniGianfranco Sinagra
Aug 19, 2015·Heart Rhythm : the Official Journal of the Heart Rhythm Society·Rahul SamantaPramesh Kovoor
Feb 24, 2016·Clinics in Dermatology·Julio A Urrets-ZavalíaAndrzej Grzybowski
Mar 10, 2015·Circulation Journal : Official Journal of the Japanese Circulation Society·Heerajnarain BulluckJames C Moon
Dec 6, 2014·Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance·Silvia PicaJames C Moon
Mar 29, 2012·The British Journal of Dermatology·A ZampettiUNKNOWN Interdisciplinary Study Group on Fabry Disease (ISGF)
Jul 3, 2013·European Journal of Heart Failure·Benedetta TomberliIacopo Olivotto
May 24, 2015·Cardiac Electrophysiology Clinics·Deepak AcharyaJosé A Tallaj
Aug 1, 2015·British Journal of Sports Medicine·Frédéric SchnellHein Heidbuchel
Apr 6, 2017·Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance·Jannike NickanderMartin Ugander
Jan 18, 2017·Korean Journal of Radiology : Official Journal of the Korean Radiological Society·Pan Ki KimByoung Wook Choi
Mar 30, 2016·Molecular & Cellular Proteomics : MCP·Jennifer E GildaAldrin V Gomes
Sep 24, 2014·Circulation·Sherif F Nagueh
Aug 5, 2017·Circulation. Cardiovascular Genetics·Sushil Allen LuisNaveen L Pereira
Jun 28, 2019·Echocardiography·Roberta EspositoUNKNOWN Anderson-Fabry Federico II Naples, ITalY (AFFINIITY) Group
Apr 11, 2013·Expert Review of Cardiovascular Therapy·Christian PrinzLothar Faber
Mar 10, 2020·Circulation. Genomic and Precision Medicine·Sara HossArnon Adler
Oct 9, 2019·Medicine·Huizhen WuQuanquan Shen
Jun 18, 2018·Biophysics Reviews·M M Akhtar, P M Elliott
Jul 13, 2017·Journal of Nuclear Cardiology : Official Publication of the American Society of Nuclear Cardiology·Ornella Rimoldi, Francesco Maranta
Dec 18, 2019·Journal of Clinical Medicine·Claudia SacchettoMartina Calore
May 18, 2021·Frontiers in Genetics·Hugo R MartinezJohn L Jefferies

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