Anderson–Fabry Disease: An Overview of Current Diagnosis, Arrhythmic Risk Stratification, and Therapeutic Strategies
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. Cardiovascular manifestations, particularly arrhythmias, are common and pose a considerable risk to aff...
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| Format: | Article |
| Language: | English |
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MDPI AG
2025-01-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/15/2/139 |
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| author | Chiara Tognola Giacomo Ruzzenenti Alessandro Maloberti Marisa Varrenti Patrizio Mazzone Cristina Giannattasio Fabrizio Guarracini |
| author_facet | Chiara Tognola Giacomo Ruzzenenti Alessandro Maloberti Marisa Varrenti Patrizio Mazzone Cristina Giannattasio Fabrizio Guarracini |
| author_sort | Chiara Tognola |
| collection | DOAJ |
| description | 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. Cardiovascular manifestations, particularly arrhythmias, are common and pose a considerable risk to affected individuals. This overview examines current approaches to arrhythmic risk stratification in AFD, focusing on the identification, assessment, and management of cardiac arrhythmias associated with the disease. We explore advancements in diagnostic techniques, including echocardiography, cardiac MRI, and ambulatory ECG monitoring, to enhance the detection of arrhythmogenic substrate. Furthermore, we discuss the role of genetic and biochemical markers in predicting arrhythmic risk and the implications for personalized treatment strategies. Current therapeutic interventions, including enzyme replacement therapy and antiarrhythmic medications, are reviewed in the context of their efficacy and limitations. Finally, we highlight ongoing research and future directions with the aim of improving arrhythmic risk assessment and management in AFD. This overview underscores the need for a multidisciplinary approach to optimize care and outcomes for patients with AFD. |
| format | Article |
| id | doaj-art-ed009bb163714de3b4c4b3d66fe4e99b |
| institution | Kabale University |
| issn | 2075-4418 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj-art-ed009bb163714de3b4c4b3d66fe4e99b2025-01-24T13:28:52ZengMDPI AGDiagnostics2075-44182025-01-0115213910.3390/diagnostics15020139Anderson–Fabry Disease: An Overview of Current Diagnosis, Arrhythmic Risk Stratification, and Therapeutic StrategiesChiara Tognola0Giacomo Ruzzenenti1Alessandro Maloberti2Marisa Varrenti3Patrizio Mazzone4Cristina Giannattasio5Fabrizio Guarracini6Clinical Cardiology Unit, De Gasperis Cardio Center, Niguarda Hospital, 20162 Milan, ItalyClinical Cardiology Unit, De Gasperis Cardio Center, Niguarda Hospital, 20162 Milan, ItalyClinical Cardiology Unit, De Gasperis Cardio Center, Niguarda Hospital, 20162 Milan, ItalyElectrophysiology Unit, De Gasperis Cardio Center, Niguarda Hospital, 20162 Milan, ItalyElectrophysiology Unit, De Gasperis Cardio Center, Niguarda Hospital, 20162 Milan, ItalyClinical Cardiology Unit, De Gasperis Cardio Center, Niguarda Hospital, 20162 Milan, ItalyElectrophysiology Unit, De Gasperis Cardio Center, Niguarda Hospital, 20162 Milan, ItalyAnderson–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. Cardiovascular manifestations, particularly arrhythmias, are common and pose a considerable risk to affected individuals. This overview examines current approaches to arrhythmic risk stratification in AFD, focusing on the identification, assessment, and management of cardiac arrhythmias associated with the disease. We explore advancements in diagnostic techniques, including echocardiography, cardiac MRI, and ambulatory ECG monitoring, to enhance the detection of arrhythmogenic substrate. Furthermore, we discuss the role of genetic and biochemical markers in predicting arrhythmic risk and the implications for personalized treatment strategies. Current therapeutic interventions, including enzyme replacement therapy and antiarrhythmic medications, are reviewed in the context of their efficacy and limitations. Finally, we highlight ongoing research and future directions with the aim of improving arrhythmic risk assessment and management in AFD. This overview underscores the need for a multidisciplinary approach to optimize care and outcomes for patients with AFD.https://www.mdpi.com/2075-4418/15/2/139Anderson–Fabry diseasearrhythmic risk stratificationsudden cardiac deathconduction system disorderstachyarrhythmiasatrial fibrillation |
| spellingShingle | Chiara Tognola Giacomo Ruzzenenti Alessandro Maloberti Marisa Varrenti Patrizio Mazzone Cristina Giannattasio Fabrizio Guarracini Anderson–Fabry Disease: An Overview of Current Diagnosis, Arrhythmic Risk Stratification, and Therapeutic Strategies Diagnostics Anderson–Fabry disease arrhythmic risk stratification sudden cardiac death conduction system disorders tachyarrhythmias atrial fibrillation |
| title | Anderson–Fabry Disease: An Overview of Current Diagnosis, Arrhythmic Risk Stratification, and Therapeutic Strategies |
| title_full | Anderson–Fabry Disease: An Overview of Current Diagnosis, Arrhythmic Risk Stratification, and Therapeutic Strategies |
| title_fullStr | Anderson–Fabry Disease: An Overview of Current Diagnosis, Arrhythmic Risk Stratification, and Therapeutic Strategies |
| title_full_unstemmed | Anderson–Fabry Disease: An Overview of Current Diagnosis, Arrhythmic Risk Stratification, and Therapeutic Strategies |
| title_short | Anderson–Fabry Disease: An Overview of Current Diagnosis, Arrhythmic Risk Stratification, and Therapeutic Strategies |
| title_sort | anderson fabry disease an overview of current diagnosis arrhythmic risk stratification and therapeutic strategies |
| topic | Anderson–Fabry disease arrhythmic risk stratification sudden cardiac death conduction system disorders tachyarrhythmias atrial fibrillation |
| url | https://www.mdpi.com/2075-4418/15/2/139 |
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