2021 TSOC Expert Consensus on the Clinical Features, Diagnosis, and Clinical Management of Cardiac Manifestations of Fabry Disease
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 globotriaosylsphingosin...
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creator | Hung, Chung-Lieh Wu, Yen-Wen Lin, Chih-Chan Lai, Chih-Hung Jyh-Ming Juang, Jimmy Chao, Ting-Hsing Kuo, Ling Sung, Kuo-Tzu Wang, Chao-Yung Wang, Chun-Li Chu, Chun-Yuan Yu, Wen-Chung Hou, Charles Jia-Yin |
description | 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, cardiacmagnetic 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. |
doi_str_mv | 10.6515/ACS.202107_37(4).20210601A |
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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) 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.</description><identifier>ISSN: 1011-6842</identifier><identifier>DOI: 10.6515/ACS.202107_37(4).20210601A</identifier><identifier>PMID: 34257484</identifier><language>eng</language><publisher>台灣: 中華民國心臟學會</publisher><subject>Cardiac magnetic resonance (CMR) ; Cardiac variant ; Chaperone ; Consensus ; Enzyme replacement therapy (ERT) ; Fabry disease (FD) ; Globotriaosylceramide (Gb3) ; Globotriaosylsphingosine (Lyso-Gb3) ; IVS4+919G>A ; MEDLINE ; Review ; SCIE ; Scopus ; α-galactosidase A (GLA) gene</subject><ispartof>Acta Cardiologica Sinica, 2021-07, Vol.37 (4), p.337-354</ispartof><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-a385t-835a69c7505faeeecf5bf8665bd63b6b3a99b7e7fd66fb17c5158fee5efcb6673</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8261701/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8261701/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids></links><search><creatorcontrib>Hung, Chung-Lieh</creatorcontrib><creatorcontrib>Wu, Yen-Wen</creatorcontrib><creatorcontrib>Lin, Chih-Chan</creatorcontrib><creatorcontrib>Lai, Chih-Hung</creatorcontrib><creatorcontrib>Jyh-Ming Juang, Jimmy</creatorcontrib><creatorcontrib>Chao, Ting-Hsing</creatorcontrib><creatorcontrib>Kuo, Ling</creatorcontrib><creatorcontrib>Sung, Kuo-Tzu</creatorcontrib><creatorcontrib>Wang, Chao-Yung</creatorcontrib><creatorcontrib>Wang, Chun-Li</creatorcontrib><creatorcontrib>Chu, Chun-Yuan</creatorcontrib><creatorcontrib>Yu, Wen-Chung</creatorcontrib><creatorcontrib>Hou, Charles Jia-Yin</creatorcontrib><title>2021 TSOC Expert Consensus on the Clinical Features, Diagnosis, and Clinical Management of Cardiac Manifestations of Fabry Disease</title><title>Acta Cardiologica Sinica</title><description>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, cardiacmagnetic 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.</description><subject>Cardiac magnetic resonance (CMR)</subject><subject>Cardiac variant</subject><subject>Chaperone</subject><subject>Consensus</subject><subject>Enzyme replacement therapy (ERT)</subject><subject>Fabry disease (FD)</subject><subject>Globotriaosylceramide (Gb3)</subject><subject>Globotriaosylsphingosine (Lyso-Gb3)</subject><subject>IVS4+919G>A</subject><subject>MEDLINE</subject><subject>Review</subject><subject>SCIE</subject><subject>Scopus</subject><subject>α-galactosidase A (GLA) gene</subject><issn>1011-6842</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><recordid>eNpVUcFu1DAQzQFEq7Z_wMHiVCS22HFsJxekVei2SEU9tJytcTLedZW1FzsB9sqX4ygrofoyHr83b2b8iuIDozdSMPF53T7dlLRkVGmurquPSyIpW78pzhllbCXrqjwrrlJ6oflUlDKp3hVnvCqFqurqvPg7l5Dnp8eW3P45YBxJG3xCn6ZEgifjDkk7OO86GMgGYZwipk_kq4OtD8nlK_j-P-M7eNjiHv1IgiUtxN5BN786i2mE0WXtGdmAiceskhASXhZvLQwJr07xovixuX1u71cPj3ff2vXDCngtxlXNBcimU4IKC4jYWWFsLaUwveRGGg5NYxQq20tpDVNd_qHaIgq0nZFS8Yviy6J7mMwe-y5PGWHQh-j2EI86gNOvEe92eht-6bqUTFGWBa5PAjH8nPJCeu9Sh8MAHsOUdClyS1VJ2mTq-4W6O_5Go3fHiNBrSkVDaznD9wsMLrrR6ZcwRZ9317Nps2f6ZOsSWJnNY68TzrPpouL_AOHMmq4</recordid><startdate>20210701</startdate><enddate>20210701</enddate><creator>Hung, Chung-Lieh</creator><creator>Wu, Yen-Wen</creator><creator>Lin, Chih-Chan</creator><creator>Lai, Chih-Hung</creator><creator>Jyh-Ming Juang, Jimmy</creator><creator>Chao, Ting-Hsing</creator><creator>Kuo, Ling</creator><creator>Sung, Kuo-Tzu</creator><creator>Wang, Chao-Yung</creator><creator>Wang, Chun-Li</creator><creator>Chu, Chun-Yuan</creator><creator>Yu, Wen-Chung</creator><creator>Hou, Charles Jia-Yin</creator><general>中華民國心臟學會</general><general>Taiwan Society of Cardiology</general><scope>188</scope><scope>9RA</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20210701</creationdate><title>2021 TSOC Expert Consensus on the Clinical Features, Diagnosis, and Clinical Management of Cardiac Manifestations of Fabry Disease</title><author>Hung, Chung-Lieh ; Wu, Yen-Wen ; Lin, Chih-Chan ; Lai, Chih-Hung ; Jyh-Ming Juang, Jimmy ; Chao, Ting-Hsing ; Kuo, Ling ; Sung, Kuo-Tzu ; Wang, Chao-Yung ; Wang, Chun-Li ; Chu, Chun-Yuan ; Yu, Wen-Chung ; Hou, Charles Jia-Yin</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-a385t-835a69c7505faeeecf5bf8665bd63b6b3a99b7e7fd66fb17c5158fee5efcb6673</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Cardiac magnetic resonance (CMR)</topic><topic>Cardiac variant</topic><topic>Chaperone</topic><topic>Consensus</topic><topic>Enzyme replacement therapy (ERT)</topic><topic>Fabry disease (FD)</topic><topic>Globotriaosylceramide (Gb3)</topic><topic>Globotriaosylsphingosine (Lyso-Gb3)</topic><topic>IVS4+919G>A</topic><topic>MEDLINE</topic><topic>Review</topic><topic>SCIE</topic><topic>Scopus</topic><topic>α-galactosidase A (GLA) gene</topic><toplevel>online_resources</toplevel><creatorcontrib>Hung, Chung-Lieh</creatorcontrib><creatorcontrib>Wu, Yen-Wen</creatorcontrib><creatorcontrib>Lin, Chih-Chan</creatorcontrib><creatorcontrib>Lai, Chih-Hung</creatorcontrib><creatorcontrib>Jyh-Ming Juang, Jimmy</creatorcontrib><creatorcontrib>Chao, Ting-Hsing</creatorcontrib><creatorcontrib>Kuo, Ling</creatorcontrib><creatorcontrib>Sung, Kuo-Tzu</creatorcontrib><creatorcontrib>Wang, Chao-Yung</creatorcontrib><creatorcontrib>Wang, Chun-Li</creatorcontrib><creatorcontrib>Chu, Chun-Yuan</creatorcontrib><creatorcontrib>Yu, Wen-Chung</creatorcontrib><creatorcontrib>Hou, Charles Jia-Yin</creatorcontrib><collection>Airiti Library</collection><collection>HyRead台灣全文資料庫</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Acta Cardiologica Sinica</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hung, Chung-Lieh</au><au>Wu, Yen-Wen</au><au>Lin, Chih-Chan</au><au>Lai, Chih-Hung</au><au>Jyh-Ming Juang, Jimmy</au><au>Chao, Ting-Hsing</au><au>Kuo, Ling</au><au>Sung, Kuo-Tzu</au><au>Wang, Chao-Yung</au><au>Wang, Chun-Li</au><au>Chu, Chun-Yuan</au><au>Yu, Wen-Chung</au><au>Hou, Charles Jia-Yin</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>2021 TSOC Expert Consensus on the Clinical Features, Diagnosis, and Clinical Management of Cardiac Manifestations of Fabry Disease</atitle><jtitle>Acta Cardiologica Sinica</jtitle><date>2021-07-01</date><risdate>2021</risdate><volume>37</volume><issue>4</issue><spage>337</spage><epage>354</epage><pages>337-354</pages><issn>1011-6842</issn><abstract>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, cardiacmagnetic 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.</abstract><cop>台灣</cop><pub>中華民國心臟學會</pub><pmid>34257484</pmid><doi>10.6515/ACS.202107_37(4).20210601A</doi><tpages>18</tpages></addata></record> |
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subjects | Cardiac magnetic resonance (CMR) Cardiac variant Chaperone Consensus Enzyme replacement therapy (ERT) Fabry disease (FD) Globotriaosylceramide (Gb3) Globotriaosylsphingosine (Lyso-Gb3) IVS4+919G>A MEDLINE Review SCIE Scopus α-galactosidase A (GLA) gene |
title | 2021 TSOC Expert Consensus on the Clinical Features, Diagnosis, and Clinical Management of Cardiac Manifestations of Fabry Disease |
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