Results 21 to 30 of about 57,841 (208)

Septal Myectomy in Patients with Hypertrophic Cardiomyopathy and Nonclassical Anderson–Fabry Disease [PDF]

Journal of Cardiovascular Development and Disease
Anderson–Fabry disease (AFD) results from decreased enzyme activity of lysosomal enzymes and intralysosomal storage of nonhydrolyzed forms. Cardiovascular complications, mainly in the form of HCM, contribute substantially to AFD patient mortality.
Alexandr Gurschenkov, Sofiya Andreeva, Vadim Zaitsev, Pavel Khazov, Gleb Ischmukhametov, Alexandra Kozyreva, Polina Sokolnikova, Olga Moiseeva, Anna Kostareva, Mikhail Gordeev   +9 more
doaj   +2 more sources

Anderson–Fabry Disease Homozygosity: Rare Case of Late-Onset Variant

Cardiogenetics
Anderson–Fabry Disease (AFD) is a rare, X-linked lysosomal storage disorder caused by a mutation in the α-Galactosidase A gene resulting in α-Galactosidase A enzyme (α-Gal A) deficiency.
Gabriela Dostalova, Jaroslav Januska, Michaela Veselá, Petra Reková, Anna Taborska, Martin Pleva, David Zemanek, Aleš Linhart   +7 more
doaj   +2 more sources

Anderson-Fabry disease cardiomyopathy: an update on epidemiology, diagnostic approach, management and monitoring strategies. [PDF]

Front Cardiovasc Med, 2023
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by deficient activity of the enzyme alpha-galactosidase. While AFD is recognized as a progressive multi-system disorder, infiltrative cardiomyopathy causing a number of ...
Averbuch T, White JA, Fine NM.
europepmc   +2 more sources

Left atrial strain correlates with severity of cardiac involvement in Anderson-Fabry disease. [PDF]

Eur Radiol, 2023
Objectives Cardiac involvement in Anderson-Fabry disease (AFD) results in myocardial lipid depositions. An early diagnosis can maximize therapeutic benefit.
Halfmann MC, Altmann S, Schoepf UJ, Reichardt C, Hennermann JB, Kreitner KF, Kloeckner R, Hahn F, Dueber C, Varga-Szemes A, Kampmann C, Emrich T.   +11 more
europepmc   +2 more sources

Anderson-Fabry Disease: An Overview of Current Diagnosis, Arrhythmic Risk Stratification, and Therapeutic Strategies. [PDF]

Diagnostics (Basel)
Anderson–Fabry disease (AFD) is a rare X-linked lysosomal storage disorder characterized by the accumulation of globotriaosylceramide, leading to multi-organ involvement and significant morbidity.
Tognola C, Ruzzenenti G, Maloberti A, Varrenti M, Mazzone P, Giannattasio C, Guarracini F.   +6 more
europepmc   +2 more sources

Pathogenesis and Molecular Mechanisms of Anderson-Fabry Disease and Possible New Molecular Addressed Therapeutic Strategies. [PDF]

Int J Mol Sci, 2021
Anderson–Fabry disease (AFD) is a rare disease with an incidenceof approximately 1:117,000 male births. Lysosomal accumulation of globotriaosylceramide (Gb3) is the element characterizing Fabry disease due to a hereditary deficiency α-galactosidase A ...
Tuttolomondo A, Simonetta I, Riolo R, Todaro F, Di Chiara T, Miceli S, Pinto A.   +6 more
europepmc   +2 more sources

Cardiovascular magnetic resonance native T1 mapping in Anderson-Fabry disease: a systematic review and meta-analysis. [PDF]

J Cardiovasc Magn Reson, 2022
Background T1 mapping is an established cardiovascular magnetic resonance (CMR) technique that can characterize myocardial tissue. We aimed to determine the weighted mean native T1 values of Anderson-Fabry disease (AFD) patients and the standardized mean
Ponsiglione A, Gambardella M, Green R, Cantoni V, Nappi C, Ascione R, De Giorgi M, Cuocolo R, Pisani A, Petretta M, Cuocolo A, Imbriaco M.   +11 more
europepmc   +2 more sources

Overcoming Resistance in Anderson-Fabry Disease: Current Therapeutic Challenges and Future Perspectives. [PDF]

J Clin Med
Anderson–Fabry disease (AFD) remains a therapeutic challenge despite advances in early diagnosis and the availability of enzyme replacement therapies (ERTs).
Carella MC, Forleo C, Caretto P, Naccarati ML, Dentamaro I, Dicorato MM, Basile P, Carulli E, Latorre MD, Baggiano A, Pontone G, Ciccone MM, Guaricci AI.   +12 more
europepmc   +2 more sources

Right Ventricular Myocardial Involvement in Anderson-Fabry Disease at Diagnosis: Evaluation with Three-Dimensional Strain Imaging. [PDF]

Life (Basel), 2023
Background: Right ventricular (RV) involvement in Anderson–Fabry disease (AFD) is well known in the advanced stages of the disease RV hypertrophies, but little is known about the early involvement.
Pucci M, Iadevaia V, Gammaldi V, Iervolino A, Capece LM, Sciascia D, Cuomo V, Iacono M, Paoletta D, Santoro C, Esposito R.   +10 more
europepmc   +2 more sources

Electrocardiogram analysis in Anderson-Fabry disease: a valuable tool for progressive phenotypic expression tracking. [PDF]

Front Cardiovasc Med, 2023
Background Electrocardiogram (ECG) has proven to be useful for early detection of cardiac involvement in Anderson-Fabry disease (AFD); however, little evidence is available on the association between ECG alterations and the progression of the disease ...
Parisi V, Baldassarre R, Ferrara V, Ditaranto R, Barlocco F, Lillo R, Re F, Marchi G, Chiti C, Di Nicola F, Catalano C, Barile L, Schiavo MA, Ponziani A, Saturi G, Caponetti AG, Berardini A, Graziosi M, Pasquale F, Salamon I, Ferracin M, Nardi E, Capelli I, Girelli D, Gimeno Blanes JR, Biffi M, Galiè N, Olivotto I, Graziani F, Biagini E.   +29 more
europepmc   +2 more sources