|Title:||2021 tsoc expert consensus on the clinical features, diagnosis, and clinical management of cardiac manifestations of fabry disease||Authors:||Hung, Chung Lieh
Lin, Chih Chan
Lai, Chih Hung
JYH-MING JIMMY JUANG
Chao, Ting Hsing
Sung, Kuo Tzu
Wang, Chao Yung
Wang, Chun Li
Chu, Chun Yuan
Yu, Wen Chung
Hou, Charles Jia Yin
|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||Issue Date:||1-Jan-2021||Journal Volume:||37||Journal Issue:||4||Source:||Acta Cardiologica Sinica||Abstract:||
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.
|Appears in Collections:||醫學院附設醫院 (臺大醫院)|
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