TY - JOUR
T1 - 2021 tsoc expert consensus on the clinical features, diagnosis, and clinical management of cardiac manifestations of fabry disease
AU - Hung, Chung Lieh
AU - Wu, Yen Wen
AU - Lin, Chih Chan
AU - Lai, Chih Hung
AU - Juang, Jimmy Jyh Ming
AU - Chao, Ting Hsing
AU - Kuo, Ling
AU - Sung, Kuo Tzu
AU - Wang, Chao Yung
AU - Wang, Chun Li
AU - Chu, Chun Yuan
AU - Yu, Wen Chung
AU - Hou, Charles Jia Yin
N1 - Publisher Copyright:
© 2021, Republic of China Society of Cardiology. All rights reserved.
PY - 2021
Y1 - 2021
N2 - 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.
AB - 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.
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U2 - 10.6515/ACS.202107_37(4).20210601A
DO - 10.6515/ACS.202107_37(4).20210601A
M3 - Article
AN - SCOPUS:85112475668
VL - 37
SP - 337
EP - 354
JO - Acta Cardiologica Sinica
JF - Acta Cardiologica Sinica
SN - 1011-6842
IS - 4
ER -