國家衛生研究院 NHRI:Item 3990099045/13550
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    Please use this identifier to cite or link to this item: http://ir.nhri.org.tw/handle/3990099045/13550


    Title: 2021 TSOC Expert consensus on the clinical features, diagnosis, and clinical management of cardiac manifestations of fabry disease
    Authors: Hung, CL;Wu, YW;Lin, CC;Lai, CH;Juang, JJM;Chao, TH;Kuo, L;Sung, KT;Wang, CY;Wang, CL;Chu, CY;Yu, WC;Hou, CJY
    Contributors: Institute of Cellular and Systems Medicine
    Abstract: Fabry disease (FD) is an X-linked, rare inherited lysosomal storage disease caused by alpha-galactosidase A gene variants resulting in deficient or undetectable alpha-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.
    Date: 2021-07
    Relation: Acta Cardiologica Sinica. 2021 Jul;37(4):337-354.
    Link to: http://dx.doi.org/10.6515/ACS.202107_37(4).20210601A
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=1011-6842&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000674682900001
    Cited Times(Scopus): https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85112475668
    Appears in Collections:[Chao-Yung Wang] Periodical Articles

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