دورية أكاديمية
2021 TSOC Expert Consensus on the Clinical Features, Diagnosis, and Clinical Management of Cardiac Manifestations of Fabry Disease.
| العنوان: | 2021 TSOC Expert Consensus on the Clinical Features, Diagnosis, and Clinical Management of Cardiac Manifestations of Fabry Disease. |
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| المؤلفون: | Hung CL; Division of Cardiology, Departments of Internal Medicine, MacKay Memorial Hospital, Taipei.; Institute of Biomedical Sciences, Mackay Medical College., Wu YW; Division of Cardiology, Cardiovascular Medical Center, Far Eastern Memorial Hospital, New Taipei City.; School of Medicine, National Yang Ming Chiao Tung University, Taipei., Lin CC; Division of Cardiology, Department of Internal Medicine, National Cheng Kung University Hospital.; Department of Internal Medicine, College of Medicine, National Cheng Kung University, Tainan., Lai CH; Cardiovascular Center, Taichung Veterans General Hospital, Taichung., Jyh-Ming Juang J; Division of Cardiology, Department of Internal Medicine and Cardiovascular Center, National Taiwan University Hospital.; College of Medicine, National Taiwan University., Chao TH; Division of Cardiology, Department of Internal Medicine, National Cheng Kung University Hospital.; Department of Internal Medicine, College of Medicine, National Cheng Kung University, Tainan., Kuo L; Division of Cardiology, Taipei Veterans General Hospital, Taipei., Sung KT; Division of Cardiology, Departments of Internal Medicine, MacKay Memorial Hospital, Taipei., Wang CY; Division of Cardiology, Chang Gung Memorial Hospital, Linkou Medical Center.; School of Medicine, College of Medicine, Chang Gung University, Taoyuan.; Institute of Cellular and System Medicine, National Health Research Institutes, Zhunan., Wang CL; Division of Cardiology, Chang Gung Memorial Hospital, Linkou Medical Center.; School of Medicine, College of Medicine, Chang Gung University, Taoyuan., Chu CY; Division of Cardiology, Kaohsiung Medical University Hospital, Kaohsiung., Yu WC; School of Medicine, National Yang Ming Chiao Tung University, Taipei.; Division of Cardiology, Taipei Veterans General Hospital, Taipei., Hou CJ; Division of Cardiology, Departments of Internal Medicine, MacKay Memorial Hospital, Taipei.; Department of Medicine, Mackay Medical College, New Taipei City, Taiwan. |
| المصدر: | Acta Cardiologica Sinica [Acta Cardiol Sin] 2021 Jul; Vol. 37 (4), pp. 337-354. |
| نوع المنشور: | Journal Article; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Taiwan Society of Cardiology Country of Publication: China (Republic : 1949- ) NLM ID: 101687085 Publication Model: Print Cited Medium: Print ISSN: 1011-6842 (Print) Linking ISSN: 10116842 NLM ISO Abbreviation: Acta Cardiol Sin Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Taipei : Taiwan Society of Cardiology |
| مستخلص: | Fabry disease (FD) is an X-linked, rare inherited lysosomal storage disease caused by α-galactosidase A gene variants resulting in deficient or undetectable α-galactosidase A enzyme activity. Progressive accumulation of pathogenic globotriaosylceramide and its deacylated form globotriaosylsphingosine in multiple cell types and organs is proposed as main pathophysiology of FD, with elicited pro-inflammatory cascade as alternative key pathological process. The clinical manifestations may present with either early onset and multisystemic involvement (cutaneous, neurological, nephrological and the cardiovascular system) with a progressive disease nature in classic phenotype, or present with a later-onset course with predominant cardiac involvement (non-classical or cardiac variant; e.g. IVS4+919G>A in Taiwan) from missense variants. In either form, cardiac involvement is featured by progressive cardiac hypertrophy, myocardial fibrosis, various arrhythmias, and heart failure known as Fabry cardiomyopathy with potential risk of sudden cardiac death. Several plasma biomarkers and advances in imaging modalities along with novel parameters, cardiac magnetic resonance (CMR: native T1/T2 mapping) for myocardial tissue characterization or echocardiographic deformations, have shown promising performance in differentiating from other etiologies of cardiomyopathy and are presumed to be helpful in assessing the extent of cardiac involvement of FD and in guiding or monitoring subsequent treatment. Early recognition from extra-cardiac red flag signs either in classic form or red flags from cardiac manifestations in cardiac variants, and awareness from multispecialty team work remains the cornerstone for timely managements and beneficial responses from therapeutic interventions (e.g. oral chaperone therapy or enzyme replacement therapy) prior to irreversible organ damage. We aim to summarize contemporary knowledge based on literature review and the gap or future perspectives in clinical practice of FD-related cardiomyopathy in an attempt to form a current expert consensus in Taiwan. |
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| فهرسة مساهمة: | Keywords: Cardiac magnetic resonance (CMR); Cardiac variant; Chaperone; Enzyme replacement therapy (ERT); Fabry disease (FD); Globotriaosylceramide (Gb3); Globotriaosylsphingosine (Lyso-Gb3); IVS4+919G>A; α-galactosidase A (GLA) gene |
| تواريخ الأحداث: | Date Created: 20210714 Latest Revision: 20210715 |
| رمز التحديث: | 20221213 |
| مُعرف محوري في PubMed: | PMC8261701 |
| DOI: | 10.6515/ACS.202107_37(4).20210601A |
| PMID: | 34257484 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1011-6842 |
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| DOI: | 10.6515/ACS.202107_37(4).20210601A |