Anderson-Fabry Disease : Red Flags for Early Diagnosis of Cardiac Involvement
Anderson-Fabry disease (AFD) is a lysosome storage disorder resulting from an X-linked inheritance of a mutation in the galactosidase A (GLA) gene encoding for the enzyme alpha-galactosidase A (α-GAL A). This mutation results in a deficiency or absence of α-GAL A activity, with a progressive intracellular deposition of glycosphingolipids leading to organ dysfunction and failure. Cardiac damage starts early in life, often occurring sub-clinically before overt cardiac symptoms. Left ventricular hypertrophy represents a common cardiac manifestation, albeit conduction system impairment, arrhythmias, and valvular abnormalities may also characterize AFD. Even in consideration of pleiotropic manifestation, diagnosis is often challenging. Thus, knowledge of cardiac and extracardiac diagnostic "red flags" is needed to guide a timely diagnosis. Indeed, considering its systemic involvement, a multidisciplinary approach may be helpful in discerning AFD-related cardiac disease. Beyond clinical pearls, a practical approach to assist clinicians in diagnosing AFD includes optimal management of biochemical tests, genetic tests, and cardiac biopsy. We extensively reviewed the current literature on AFD cardiomyopathy, focusing on cardiac "red flags" that may represent key diagnostic tools to establish a timely diagnosis. Furthermore, clinical findings to identify patients at higher risk of sudden death are also highlighted.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:14 |
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| Enthalten in: |
Diagnostics (Basel, Switzerland) - 14(2024), 2 vom: 18. Jan. |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Iorio, Annamaria [VerfasserIn] |
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| Links: |
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| Themen: |
Anderson–Fabry disease |
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| Anmerkungen: |
Date Revised 28.01.2024 published: Electronic Citation Status PubMed-not-MEDLINE |
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| doi: |
10.3390/diagnostics14020208 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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NLM367385759 |
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| 520 | |a Anderson-Fabry disease (AFD) is a lysosome storage disorder resulting from an X-linked inheritance of a mutation in the galactosidase A (GLA) gene encoding for the enzyme alpha-galactosidase A (α-GAL A). This mutation results in a deficiency or absence of α-GAL A activity, with a progressive intracellular deposition of glycosphingolipids leading to organ dysfunction and failure. Cardiac damage starts early in life, often occurring sub-clinically before overt cardiac symptoms. Left ventricular hypertrophy represents a common cardiac manifestation, albeit conduction system impairment, arrhythmias, and valvular abnormalities may also characterize AFD. Even in consideration of pleiotropic manifestation, diagnosis is often challenging. Thus, knowledge of cardiac and extracardiac diagnostic "red flags" is needed to guide a timely diagnosis. Indeed, considering its systemic involvement, a multidisciplinary approach may be helpful in discerning AFD-related cardiac disease. Beyond clinical pearls, a practical approach to assist clinicians in diagnosing AFD includes optimal management of biochemical tests, genetic tests, and cardiac biopsy. We extensively reviewed the current literature on AFD cardiomyopathy, focusing on cardiac "red flags" that may represent key diagnostic tools to establish a timely diagnosis. Furthermore, clinical findings to identify patients at higher risk of sudden death are also highlighted | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Review | |
| 650 | 4 | |a Anderson–Fabry disease | |
| 650 | 4 | |a cardiac involvement | |
| 650 | 4 | |a cardiomyopathy | |
| 650 | 4 | |a diagnostic red flags | |
| 650 | 4 | |a left ventricular dysfunction | |
| 700 | 1 | |a Lucà, Fabiana |e verfasserin |4 aut | |
| 700 | 1 | |a Pozzi, Andrea |e verfasserin |4 aut | |
| 700 | 1 | |a Rao, Carmelo Massimiliano |e verfasserin |4 aut | |
| 700 | 1 | |a Chimenti, Cristina |e verfasserin |4 aut | |
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| 700 | 1 | |a Rossini, Roberta |e verfasserin |4 aut | |
| 700 | 1 | |a Caretta, Giorgio |e verfasserin |4 aut | |
| 700 | 1 | |a Cornara, Stefano |e verfasserin |4 aut | |
| 700 | 1 | |a Giubilato, Simona |e verfasserin |4 aut | |
| 700 | 1 | |a Di Matteo, Irene |e verfasserin |4 aut | |
| 700 | 1 | |a Di Nora, Concetta |e verfasserin |4 aut | |
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| 700 | 1 | |a Gelsomino, Sandro |e verfasserin |4 aut | |
| 700 | 1 | |a Ceravolo, Roberto |e verfasserin |4 aut | |
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| 700 | 0 | |a Management and Quality Working Group Associazione Nazionale Medici Cardiologi Ospedalieri (ANMCO) |e verfasserin |4 aut | |
| 700 | 1 | |a The Cardiac Rare Diseases Working Group Associazione Nazionale Medici Cardiologi Ospedalieri Anmco |e verfasserin |4 aut | |
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