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Anderson-Fabrydisease is an X-linked lysosomal storage disorder caused by a deficiency in the lysosomal enzyme α-galactosidase A. This results in pathological accumulation of glycosphingolipids in several tissues and multi-organ progressive dysfunction. The typical clinical phenotype of Anderson-Fabry cardiomyopathy is progressive hypertrophic cardiomyopathy associated with rhythm and conduction disturbances. Cardiac imaging plays a key role in the evaluation and management of Anderson-Fabry disease patients. The present review highlights the value and perspectives of standard and advanced cardiovascular imaging in Anderson-Fabry disease.
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http://dx.doi.org/10.3390/jcm10091994 | DOI Listing |
J Genet Couns
October 2025
Department of Genetic Counseling, Graduate School of Medical Sciences, Fujita Health University, Toyoake, Aichi, Japan.
Newborn screening (NBS) for Fabry disease (FD) is an effective way to identify individuals with FD before the onset of symptoms, enabling early therapeutic treatment. The classic form of FD typically begins in early childhood or later, but the late-onset form often develops in adulthood. However, FD-NBS identifies positive cases regardless of the expected timing of symptom onset.
View Article and Find Full Text PDFMol Ther Nucleic Acids
September 2025
Department of Biology, University of Padova, 35131 Padova, Italy.
Acta Cardiol
September 2025
Department of Cardiovascular Diseases, University Hospital Centre Zagreb, Zagreb, Croatia.
Orphanet J Rare Dis
September 2025
Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum - University of Bologna, Bologna, Italy.
Rationale & Objective: Late-onset Anderson-Fabry disease appears in adulthood, usually with prevalent cardiac involvement. The N215S (p.Asn215Ser) missense mutation represents the most frequent late-onset variant in European countries.
View Article and Find Full Text PDFJ Med Genet
September 2025
Inherited Renal Disorders, Nephrology Department, Fundació Puigvert, IR Sant Pau, RICORS2040, Universitat Autònoma de Barcelona, Barcelona, Spain.
Background: Fabry disease is a progressive, X-linked lysosomal disorder caused by reduced or absent α-galactosidase A activity due to variants. Females with Fabry disease often experience diagnostic delays and an underappreciated disease burden owing to their variable disease presentation and progression.
Methods: We conducted a analysis of all females from the clinical studies FACETS (NCT00925301) and ATTRACT (NCT01218659) and their open-label extensions, assessing baseline characteristics and long-term efficacy of migalastat regarding cardiac and renal function and Fabry-associated clinical events (FACEs).