2021 tsoc expert consensus on the clinical features, diagnosis, and clinical management of cardiac manifestations of fabry disease

Chung Lieh Hung, Yen Wen Wu, Chih-Chan Lin, Chih Hung Lai, Jimmy Jyh Ming Juang, Ting Hsing Chao, Ling Kuo, Kuo Tzu Sung, Chao Yung Wang, Chun Li Wang, Chun Yuan Chu, Wen Chung Yu, Charles Jia Yin Hou

研究成果: Article同行評審

摘要

Fabry disease (FD) is an X-linked, rare inherited lysosomal storage disease caused by -galactosidase A gene variants resulting in deficient or undetectable -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, cardiacmagnetic resonance (CMR: Native T1/T2 mapping) formyocardial 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.

原文English
頁(從 - 到)337-354
頁數18
期刊Acta Cardiologica Sinica
37
發行號4
DOIs
出版狀態Published - 2021

All Science Journal Classification (ASJC) codes

  • 心臟病學與心血管醫學

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