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Anderson Fabry Disease

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https://www.readbyqxmd.com/read/29755794/time-of-anderson-fabry-disease-detection-and-cardiovascular-presentation
#1
K Selthofer-Relatic
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...
2018: Case Reports in Cardiology
https://www.readbyqxmd.com/read/29713479/pulmonary-involvement-in-fabry-disease-effect-of-plasma-globotriaosylsphingosine-and-time-to-initiation-of-enzyme-replacement-therapy
#2
Daniel Franzen, Sarah R Haile, David C Kasper, Thomas P Mechtler, Andreas J Flammer, Pierre A Krayenbühl, Albina Nowak
Introduction: Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by mutations of GLA gene leading to reduced α-galactosidase activity and resulting in a progressive accumulation of globotriaosylceramide (Gb3) and its deacylated derivative, globotriaosyl-sphingosine (Lyso-Gb3). Plasma Lyso-Gb3 levels serve as a disease severity and treatment monitoring marker during enzyme replacement therapy (ERT). Methods: Adult patients with AFD who had yearly pulmonary function tests between 1999 and 2015 were eligible for this observational study...
2018: BMJ Open Respiratory Research
https://www.readbyqxmd.com/read/29688154/use-of-myocardial-t1-mapping-at-3-0-t-to-differentiate-anderson-fabry-disease-from-hypertrophic-cardiomyopathy
#3
Gauri R Karur, Sean Robison, Robert M Iwanochko, Chantal F Morel, Andrew M Crean, Paaladinesh Thavendiranathan, Elsie T Nguyen, Shobhit Mathur, Syed Wasim, Kate Hanneman
Purpose To compare left ventricular (LV) and right ventricular (RV) 3.0-T cardiac magnetic resonance (MR) imaging T1 values in Anderson-Fabry disease (AFD) and hypertrophic cardiomyopathy (HCM) and evaluate the diagnostic value of native T1 values beyond age, sex, and conventional imaging features. Materials and Methods For this prospective study, 30 patients with gene-positive AFD (37% male; mean age ± standard deviation, 45.0 years ± 14.1) and 30 patients with HCM (57% male; mean age, 49.3 years ± 13.5) were prospectively recruited between June 2016 and September 2017 to undergo cardiac MR imaging T1 mapping with a modified Look-Locker inversion recovery (MOLLI) acquisition scheme at 3...
April 24, 2018: Radiology
https://www.readbyqxmd.com/read/29626078/early-cardiac-involvement-affects-left-ventricular-longitudinal-function-in-females-carrying-%C3%AE-galactosidase-a-mutation-role-of-hybrid-positron-emission-tomography-and-magnetic-resonance-imaging-and-speckle-tracking-echocardiography
#4
Letizia Spinelli, Massimo Imbriaco, Carmela Nappi, Emanuele Nicolai, Giuseppe Giugliano, Andrea Ponsiglione, Tommaso Claudio Diomiaiuti, Eleonora Riccio, Giovanni Duro, Antonio Pisani, Bruno Trimarco, Alberto Cuocolo
BACKGROUND: Hybrid 18 F-fluorodeoxyglucose (FDG) positron emission tomography and magnetic resonance imaging may differentiate mature fibrosis or scar from fibrosis associated to active inflammation in patients with Anderson-Fabry disease, even in nonhypertrophic stage. This study was designed to compare the results of positron emission tomography and magnetic resonance cardiac imaging with those of speckle-tracking echocardiography in heterozygous Anderson-Fabry disease females. METHODS AND RESULTS: Twenty-four heterozygous females carrying α-galactosidase A mutation and without left ventricular hypertrophy underwent cardiac positron emission tomography and magnetic resonance using 18 F-FDG for glucose uptake and 2-dimensional strain echocardiography...
April 2018: Circulation. Cardiovascular Imaging
https://www.readbyqxmd.com/read/29618309/genetics-and-gene-therapy-of-anderson-fabry-disease
#5
Irene Simonetta, Antonino Tuttolomondo, Tiziana Di Chiara, Salvatore Miceli
Fabry's disease is a genetic disorder of X-linked inheritance caused by mutations in the alpha galactosidase A gene resulting in deficiency of this lysosomal enzyme. The progressive accumulation of glycosphingolipids, caused by the inadequate enzymatic activity, is responsible of organ dysfunction and thus of clinical manifestations. In presence of a high clinical suspicion, a careful physical examination and specific laboratory tests are required, finally diagnosis of Fabry's disease is confirmed by demonstration of absence or reduced alpha galactosidase A enzyme activity in hemizygous men and gene typing in heterozygous females; in fact the performance of enzymatic activity assay alone in women is inconclusive...
April 4, 2018: Current Gene Therapy
https://www.readbyqxmd.com/read/29538136/anderson-fabry-disease
#6
Alessandro Di Toro, Valentina Favalli, Eloisa Arbustini
No abstract text is available yet for this article.
February 2018: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/29415625/a-predominant-cardiac-phenotype-of-anderson-fabry-disease-in-presence-of-a-mybpc3-gene-mutation-and-a-lama4-gene-mutation
#7
Dorien Laenens, Pieter Koopman, Thijs Cools
No abstract text is available yet for this article.
February 7, 2018: Acta Cardiologica
https://www.readbyqxmd.com/read/28992817/clinical-recommendations-for-cardiovascular-magnetic-resonance-mapping-of-t1-t2-t2-and-extracellular-volume-a-consensus-statement-by-the-society-for-cardiovascular-magnetic-resonance-scmr-endorsed-by-the-european-association-for-cardiovascular-imaging-eacvi
#8
REVIEW
Daniel R Messroghli, James C Moon, Vanessa M Ferreira, Lars Grosse-Wortmann, Taigang He, Peter Kellman, Julia Mascherbauer, Reza Nezafat, Michael Salerno, Erik B Schelbert, Andrew J Taylor, Richard Thompson, Martin Ugander, Ruud B van Heeswijk, Matthias G Friedrich
Parametric mapping techniques provide a non-invasive tool for quantifying tissue alterations in myocardial disease in those eligible for cardiovascular magnetic resonance (CMR). Parametric mapping with CMR now permits the routine spatial visualization and quantification of changes in myocardial composition based on changes in T1, T2, and T2*(star) relaxation times and extracellular volume (ECV). These changes include specific disease pathways related to mainly intracellular disturbances of the cardiomyocyte (e...
October 9, 2017: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/28977874/inter-familial-and-intra-familial-phenotypic-variability-in-three-sicilian-families-with-anderson-fabry-disease
#9
Antonino Tuttolomondo, Irene Simonetta, Giovanni Duro, Rosaria Pecoraro, Salvatore Miceli, Paolo Colomba, Carmela Zizzo, Antonia Nucera, Mario Daidone, Tiziana Di Chiara, Rosario Scaglione, Vittoriano Della Corte, Francesca Corpora, Danai Vogiatzis, Antonio Pinto
BACKGROUND: Anderson-Fabry disease (AFD) is an inborn lysosomal enzymopathy resulting from the deficient or absent activity of the lysosomal exogalactohydrolase, α-galactosidase A. This deficiency, results in the altered metabolism of glycosphingolipids which leads to their accumulation in lysosomes, thus to cellular and vascular dysfunction. To date, numerous mutations (according to recent data more than 1000 mutations) have been reported in the GLA intronic and exonic mutations. Traditionally, clinical manifestations are more severe in affected hemizygous males than in females...
September 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28954631/measurement-of-myocardial-native-t1-in-cardiovascular-diseases-and-norm-in-1291-subjects
#10
Joanna M Liu, Alexander Liu, Joana Leal, Fiona McMillan, Jane Francis, Andreas Greiser, Oliver J Rider, Saul Myerson, Stefan Neubauer, Vanessa M Ferreira, Stefan K Piechnik
BACKGROUND: Native T1-mapping provides quantitative myocardial tissue characterization for cardiovascular diseases (CVD), without the need for gadolinium. However, its translation into clinical practice is hindered by differences between techniques and the lack of established reference values. We provide typical myocardial T1-ranges for 18 commonly encountered CVDs using a single T1-mapping technique - Shortened Look-Locker Inversion Recovery (ShMOLLI), also used in the large UK Biobank and Hypertrophic Cardiomyopathy Registry study...
September 28, 2017: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/28936893/severe-hypertrophic-cardiomyopathy-in-a-patient-with-atypical-anderson-fabry-disease
#11
Daniele Masarone, Giovanni Duro, Santo Dellegrottaglie, Paolo Colomba, Marta Rubino, Annapaola Cirillo, Antonio Pisani, Martina Caiazza, Perry Mark Elliott, Paolo Calabrò, Giuseppe Pacileo, Giuseppe Limongelli
AIM: Anderson-Fabry disease (AFD) is a hereditary disorder caused by a deficiency in the lysosomal enzyme α-galactosidase A which causes dysfunctions in multiple organ systems. Cardiac manifestation includes left ventricular hypertrophy, thickening of the valves, conduction disturbances and in the late phase, extensive areas of myocardial fibrosis with increased risk of sudden cardiac death. Case example: A case of AFD with exclusive cardiac involvement is described. During follow-up, due to the high risk of life-threatening arrhythmic events, implantation of an implantable cardioverter defibrillator is performed...
November 2017: Future Cardiology
https://www.readbyqxmd.com/read/28933368/biomarkers-and-imaging-findings-of-anderson-fabry-disease-what-we-know-now
#12
REVIEW
Idalina Beirão, Ana Cabrita, Márcia Torres, Fernando Silva, Patrício Aguiar, Francisco Laranjeira, Ana Marta Gomes
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature on biomarkers and imaging findings of AFD patients. An extensive bibliographic review from PubMed, Medline and Clinical Key databases was performed by a group of experts from nephrology, neurology, genetics, cardiology and internal medicine, aiming for consensus...
June 11, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28821638/fluorescent-probes-for-selective-protein-labeling-in-lysosomes-a-case-of-%C3%AE-galactosidase-a
#13
Cornelius Bohl, Adam Pomorski, Susanne Seemann, Anne-Marie Knospe, Chaonan Zheng, Artur Krężel, Arndt Rolfs, Jan Lukas
Fluorescence-based live-cell imaging (LCI) of lysosomal glycosidases is often hampered by unfavorable pH and redox conditions that reduce fluorescence output. Moreover, most lysosomal glycosidases are low-mass soluble proteins that do not allow for bulky fluorescent protein fusions. We selected α-galactosidase A (GALA) as a model lysosomal glycosidase involved in Anderson-Fabry disease (AFD) for the current LCI approach. Examination of the subcellular localization of AFD-causing mutants can reveal the mechanism underlying cellular trafficking deficits...
December 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28813699/t1-and-t2-mapping-in-cardiology-mapping-the-obscure-object-of-desire
#14
Sophie Mavrogeni, Dimitris Apostolou, Panayiotis Argyriou, Stella Velitsista, Lilika Papa, Stelios Efentakis, Evangelos Vernardos, Mikela Kanoupaki, George Kanoupakis, Athanassios Manginas
The increasing use of cardiovascular magnetic resonance (CMR) is based on its capability to perform biventricular function assessment and tissue characterization without radiation and with high reproducibility. The use of late gadolinium enhancement (LGE) gave the potential of non-invasive biopsy for fibrosis quantification. However, LGE is unable to detect diffuse myocardial disease. Native T1 mapping and extracellular volume fraction (ECV) provide knowledge about pathologies affecting both the myocardium and interstitium that is otherwise difficult to identify...
August 17, 2017: Cardiology
https://www.readbyqxmd.com/read/28793143/intraoperative-diagnosis-of-anderson-fabry-disease-in-patients-with-obstructive-hypertrophic-cardiomyopathy-undergoing-surgical-myectomy
#15
Franco Cecchi, Maria Iascone, Niccolò Maurizi, Laura Pezzoli, Irene Binaco, Elena Biagini, Maria Laura Fibbi, Iacopo Olivotto, Federico Pieruzzi, Ana Fruntelata, Lucian Dorobantu, Claudio Rapezzi, Paolo Ferrazzi
Importance: Diagnostic screening for Anderson-Fabry cardiomyopathy (AFC) is performed in the presence of specific clinical red flags in patients with hypertrophic cardiomyopathy (HCM) older than 25 years. However, left ventricular outflow tract obstruction (LVOTO) has been traditionally considered an exclusion criteria for AFC. Objective: To examine a series of patients diagnosed with HCM and severe basal LVOTO undergoing myectomy in whom the diagnosis of AFC was suspected by the cardiac surgeon intraoperatively and confirmed by histological and genetic examinations...
October 1, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28733764/cardiac-sympathetic-neuronal-damage-precedes-myocardial-fibrosis-in-patients-with-anderson-fabry-disease
#16
Massimo Imbriaco, Teresa Pellegrino, Valentina Piscopo, Mario Petretta, Andrea Ponsiglione, Carmela Nappi, Marta Puglia, Serena Dell'Aversana, Eleonora Riccio, Letizia Spinelli, Antonio Pisani, Alberto Cuocolo
PURPOSE: Cardiac sympathetic denervation may be detectable in patients with Anderson-Fabry disease (AFD), suggesting its usefulness for early detection of the disease. However, the relationship between sympathetic neuronal damage measured by 123I-metaiodobenzylguanidine (MIBG) imaging with myocardial fibrosis on cardiac magnetic resonance (CMR) is still unclear. METHODS: Cardiac sympathetic innervation was assessed by 123I-MIBG single-photon emission computed tomography (SPECT) in 25 patients with genetically proved AFD...
December 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28668140/clinical-features-diagnosis-and-management-of-patients-with-anderson-fabry-cardiomyopathy
#17
REVIEW
Haran Yogasundaram, Daniel Kim, Omar Oudit, Richard B Thompson, Frank Weidemann, Gavin Y Oudit
Anderson-Fabry disease (AFD) is an X-linked recessive, multisystem disease of lysosomal storage. A mutation in the gene encoding the hydrolase enzyme α-galactosidase A results in its deficiency, or complete absence of activity. Subsequent progressive intracellular accumulation of glycosphingolipids, predominantly globotriaosylceramide, in various tissues, results in progressive organ dysfunction and failure, most commonly affecting the kidneys, nervous system, skin, eyes, vascular endothelium, and the heart...
July 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28615537/inter-familial-and-intra-familial-phenotypic-variability-in-three-sicilian-families-with-anderson-fabry-disease
#18
Antonino Tuttolomondo, Irene Simonetta, Giovanni Duro, Rosaria Pecoraro, Salvatore Miceli, Paolo Colomba, Carmela Zizzo, Antonia Nucera, Mario Daidone, Tiziana Di Chiara, Rosario Scaglione, Vittoriano Della Corte, Francesca Corpora, Danai Vogiatzis, Antonio Pinto
BACKGROUND: Anderson-Fabry disease (AFD) is an inborn lysosomal enzymopathy resulting from the deficient or absent activity of the lysosomal exogalactohydrolase, α-galactosidase A. This deficiency, results in the altered metabolism of glycosphingolipids which leads to their accumulation in lysosomes, thus to cellular and vascular dysfunction. To date, numerous mutations (according to recent data more than 1000 mutations) have been reported in the GLA intronic and exonic mutations. Traditionally, clinical manifestations are more severe in affected hemizygous males than in females...
May 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28608328/towards-accurate-and-precise-t-1-and-extracellular-volume-mapping-in-the-myocardium-a-guide-to-current-pitfalls-and-their-solutions
#19
REVIEW
Donnie Cameron, Vassilios S Vassiliou, David M Higgins, Peter D Gatehouse
Mapping of the longitudinal relaxation time (T 1 ) and extracellular volume (ECV) offers a means of identifying pathological changes in myocardial tissue, including diffuse changes that may be invisible to existing T 1 -weighted methods. This technique has recently shown strong clinical utility for pathologies such as Anderson-Fabry disease and amyloidosis and has generated clinical interest as a possible means of detecting small changes in diffuse fibrosis; however, scatter in T 1 and ECV estimates offers challenges for detecting these changes, and bias limits comparisons between sites and vendors...
February 2018: Magma
https://www.readbyqxmd.com/read/28550929/arrhythmia-and-clinical-cardiac-findings-in-children-with-anderson-fabry-disease
#20
Hunter C Wilson, Robert J Hopkin, Peace C Madueme, Richard J Czosek, Laurie A Bailey, Michael D Taylor, John L Jefferies
Anderson-Fabry Disease (AFD) is a lysosomal storage disorder that results in progressive cardiovascular hypertrophy, scarring, and arrhythmia burden; yet, the early cardiac phenotype of AFD is still poorly defined. To further characterize early cardiac features in AFD, we evaluated electrocardiographic and clinical findings contained in a local cohort of pediatric AFD patients and arrhythmia data in children enrolled in the Fabry Registry. Twenty-six local patients aged <18 years were identified (average age 9...
July 15, 2017: American Journal of Cardiology
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