Longitudinal Observational Study of Cardiac Outcome Risk Factor Prediction in Children, Adolescents, and Adults with Barth Syndrome
Barth Syndrome (BTHS) is an X-linked mitochondrial cardioskeletal myopathy caused by defects in TAFAZZIN , a gene responsible for cardiolipin remodeling. Altered mitochondrial levels of cardiolipin lead to cardiomyopathy (CM), muscle weakness, exercise intolerance, and mortality. Cardiac risk factor...
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| Veröffentlicht in: | Pediatric cardiology 2022-08, Vol.43 (6), p.1251-1263 |
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| creator | Chowdhury, Shahryar Jackson, Lanier Byrne, Barry J. Bryant, Randall M. Cade, W. Todd Churchill, Tammy Lane Buchanan, Julia Taylor, Carolyn |
| description | Barth Syndrome (BTHS) is an X-linked mitochondrial cardioskeletal myopathy caused by defects in
TAFAZZIN
, a gene responsible for cardiolipin remodeling. Altered mitochondrial levels of cardiolipin lead to cardiomyopathy (CM), muscle weakness, exercise intolerance, and mortality. Cardiac risk factors predicting outcome are unknown. Therefore, we conducted a longitudinal observational study to determine risk factors for outcome in BTHS. Subjects with minimum two evaluations (or one followed by death or transplant) were included. Cardiac size, function, and QTc data were measured by echocardiography and electrocardiography at 7 time points from 2002 to 2018. Analysis included baseline, continuous, and categorical variables. Categorical risk factors included prolonged QTc, abnormal right ventricle fractional area change (RV FAC), left ventricle (LV) or RV non-compaction, and restrictive CM phenotype. The association between variables and cardiac death or transplant (CD/TX) was assessed. Median enrollment age was 7 years (range 0.5–22;
n
= 44). Transplant-free survival (TFS) was 74.4% at 15 years from first evaluation. The cohort demonstrated longitudinal declines in LV size and stroke volume z-scores (end-diastolic volume,
p
= 0.0002; stroke volume
p
|
| doi_str_mv | 10.1007/s00246-022-02846-8 |
| format | Article |
| fullrecord | <record><control><sourceid>gale_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9462389</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A710752313</galeid><sourcerecordid>A710752313</sourcerecordid><originalsourceid>FETCH-LOGICAL-c513t-7aa69b13fc9e91b001ec4ef057e8c1538c0f0dffac1e6e69bf6e1d0454e3f3b23</originalsourceid><addsrcrecordid>eNp9Uk2LFDEQDaK44-of8CABLx6216TTnxdhHFwVBkZcPYd0UpnJ2p2sSffKnP3jVtvr4oJIyFfVe4-q5BHynLNzzlj9OjGWF1XG8hxng6fmAVnxQuQZb2v-kKwYrzFVFeKEPEnpijHWsKZ8TE5EmYumLesV-bkNfu_GyTiverrrEsQbNbow3y4xfKTB0o2KxilNd9OowwD0s0vf6IXSY4j0UwTj9MygztPNwfUmgj-jaxN6SBr8mM6o8gYDUz8m-sONB_pWRVwvj95E1HtKHlnVJ3h2u5-Srxfvvmw-ZNvd-4-b9TbTJRdjVitVtR0XVrfQ8o4xDroAy8oaGs1L0WhmmbFWaQ4VINRWwA0rygKEFV0uTsmbRfd66gYwc21R9fI6ukHFowzKyfsZ7w5yH25kW1Tze6HAq1uBGL5PkEY5OGyx75WHMCWZV6Is6oILhtCXC3SvepDO24CKeobLdc1ZjR_ABaLO_4HCYWBwOniwDuP3CPlC0DGkFMHeVc-ZnE0hF1NINIX8bQrZIOnF333fUf64AAFiASRM-T1EeRWmiBZI_5P9BbVSxDo</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2635474130</pqid></control><display><type>article</type><title>Longitudinal Observational Study of Cardiac Outcome Risk Factor Prediction in Children, Adolescents, and Adults with Barth Syndrome</title><source>MEDLINE</source><source>Springer Nature - Complete Springer Journals</source><creator>Chowdhury, Shahryar ; Jackson, Lanier ; Byrne, Barry J. ; Bryant, Randall M. ; Cade, W. Todd ; Churchill, Tammy Lane ; Buchanan, Julia ; Taylor, Carolyn</creator><creatorcontrib>Chowdhury, Shahryar ; Jackson, Lanier ; Byrne, Barry J. ; Bryant, Randall M. ; Cade, W. Todd ; Churchill, Tammy Lane ; Buchanan, Julia ; Taylor, Carolyn</creatorcontrib><description>Barth Syndrome (BTHS) is an X-linked mitochondrial cardioskeletal myopathy caused by defects in
TAFAZZIN
, a gene responsible for cardiolipin remodeling. Altered mitochondrial levels of cardiolipin lead to cardiomyopathy (CM), muscle weakness, exercise intolerance, and mortality. Cardiac risk factors predicting outcome are unknown. Therefore, we conducted a longitudinal observational study to determine risk factors for outcome in BTHS. Subjects with minimum two evaluations (or one followed by death or transplant) were included. Cardiac size, function, and QTc data were measured by echocardiography and electrocardiography at 7 time points from 2002 to 2018. Analysis included baseline, continuous, and categorical variables. Categorical risk factors included prolonged QTc, abnormal right ventricle fractional area change (RV FAC), left ventricle (LV) or RV non-compaction, and restrictive CM phenotype. The association between variables and cardiac death or transplant (CD/TX) was assessed. Median enrollment age was 7 years (range 0.5–22;
n
= 44). Transplant-free survival (TFS) was 74.4% at 15 years from first evaluation. The cohort demonstrated longitudinal declines in LV size and stroke volume z-scores (end-diastolic volume,
p
= 0.0002; stroke volume
p
< 0.0001), worsening RV FAC (
p
= 0.0405), and global longitudinal strain (GLS) (
p
= 0.0001) with stable ejection (EF) and shortening (FS) fraction. CD/TX subjects (
n
= 9) displayed worsening LV dilation (
p
= 0.0066), EF (
p
≤ 0.0001), FS (
p
= 0.0028), and RV FAC (
p
= .0032) versus stability in TFS. Having ≥ 2 categorical risk factors predicted CD/TX (
p
= 0.0073). Over 15 years, 25% of BTHS subjects progressed to CD/TX. Those with progressive LV enlargement, dysfunction, and multiple cardiac risk factors warrant increased surveillance and intense therapy.</description><identifier>ISSN: 0172-0643</identifier><identifier>EISSN: 1432-1971</identifier><identifier>DOI: 10.1007/s00246-022-02846-8</identifier><identifier>PMID: 35238957</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>Barth Syndrome - genetics ; Cardiac Surgery ; Cardiolipin ; Cardiolipins ; Cardiology ; Children's furniture ; Echocardiography ; Electrocardiogram ; Electrocardiography ; Heart ; Heart Ventricles - diagnostic imaging ; Humans ; Medical research ; Medicine ; Medicine & Public Health ; Medicine, Experimental ; Membrane lipids ; Mortality ; Original Article ; Risk Factors ; Stroke Volume - physiology ; Vascular Surgery</subject><ispartof>Pediatric cardiology, 2022-08, Vol.43 (6), p.1251-1263</ispartof><rights>The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2022</rights><rights>2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.</rights><rights>COPYRIGHT 2022 Springer</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c513t-7aa69b13fc9e91b001ec4ef057e8c1538c0f0dffac1e6e69bf6e1d0454e3f3b23</citedby><cites>FETCH-LOGICAL-c513t-7aa69b13fc9e91b001ec4ef057e8c1538c0f0dffac1e6e69bf6e1d0454e3f3b23</cites><orcidid>0000-0003-2583-3124</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00246-022-02846-8$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00246-022-02846-8$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>230,314,776,780,881,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/35238957$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chowdhury, Shahryar</creatorcontrib><creatorcontrib>Jackson, Lanier</creatorcontrib><creatorcontrib>Byrne, Barry J.</creatorcontrib><creatorcontrib>Bryant, Randall M.</creatorcontrib><creatorcontrib>Cade, W. Todd</creatorcontrib><creatorcontrib>Churchill, Tammy Lane</creatorcontrib><creatorcontrib>Buchanan, Julia</creatorcontrib><creatorcontrib>Taylor, Carolyn</creatorcontrib><title>Longitudinal Observational Study of Cardiac Outcome Risk Factor Prediction in Children, Adolescents, and Adults with Barth Syndrome</title><title>Pediatric cardiology</title><addtitle>Pediatr Cardiol</addtitle><addtitle>Pediatr Cardiol</addtitle><description>Barth Syndrome (BTHS) is an X-linked mitochondrial cardioskeletal myopathy caused by defects in
TAFAZZIN
, a gene responsible for cardiolipin remodeling. Altered mitochondrial levels of cardiolipin lead to cardiomyopathy (CM), muscle weakness, exercise intolerance, and mortality. Cardiac risk factors predicting outcome are unknown. Therefore, we conducted a longitudinal observational study to determine risk factors for outcome in BTHS. Subjects with minimum two evaluations (or one followed by death or transplant) were included. Cardiac size, function, and QTc data were measured by echocardiography and electrocardiography at 7 time points from 2002 to 2018. Analysis included baseline, continuous, and categorical variables. Categorical risk factors included prolonged QTc, abnormal right ventricle fractional area change (RV FAC), left ventricle (LV) or RV non-compaction, and restrictive CM phenotype. The association between variables and cardiac death or transplant (CD/TX) was assessed. Median enrollment age was 7 years (range 0.5–22;
n
= 44). Transplant-free survival (TFS) was 74.4% at 15 years from first evaluation. The cohort demonstrated longitudinal declines in LV size and stroke volume z-scores (end-diastolic volume,
p
= 0.0002; stroke volume
p
< 0.0001), worsening RV FAC (
p
= 0.0405), and global longitudinal strain (GLS) (
p
= 0.0001) with stable ejection (EF) and shortening (FS) fraction. CD/TX subjects (
n
= 9) displayed worsening LV dilation (
p
= 0.0066), EF (
p
≤ 0.0001), FS (
p
= 0.0028), and RV FAC (
p
= .0032) versus stability in TFS. Having ≥ 2 categorical risk factors predicted CD/TX (
p
= 0.0073). Over 15 years, 25% of BTHS subjects progressed to CD/TX. Those with progressive LV enlargement, dysfunction, and multiple cardiac risk factors warrant increased surveillance and intense therapy.</description><subject>Barth Syndrome - genetics</subject><subject>Cardiac Surgery</subject><subject>Cardiolipin</subject><subject>Cardiolipins</subject><subject>Cardiology</subject><subject>Children's furniture</subject><subject>Echocardiography</subject><subject>Electrocardiogram</subject><subject>Electrocardiography</subject><subject>Heart</subject><subject>Heart Ventricles - diagnostic imaging</subject><subject>Humans</subject><subject>Medical research</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Medicine, Experimental</subject><subject>Membrane lipids</subject><subject>Mortality</subject><subject>Original Article</subject><subject>Risk Factors</subject><subject>Stroke Volume - physiology</subject><subject>Vascular Surgery</subject><issn>0172-0643</issn><issn>1432-1971</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9Uk2LFDEQDaK44-of8CABLx6216TTnxdhHFwVBkZcPYd0UpnJ2p2sSffKnP3jVtvr4oJIyFfVe4-q5BHynLNzzlj9OjGWF1XG8hxng6fmAVnxQuQZb2v-kKwYrzFVFeKEPEnpijHWsKZ8TE5EmYumLesV-bkNfu_GyTiverrrEsQbNbow3y4xfKTB0o2KxilNd9OowwD0s0vf6IXSY4j0UwTj9MygztPNwfUmgj-jaxN6SBr8mM6o8gYDUz8m-sONB_pWRVwvj95E1HtKHlnVJ3h2u5-Srxfvvmw-ZNvd-4-b9TbTJRdjVitVtR0XVrfQ8o4xDroAy8oaGs1L0WhmmbFWaQ4VINRWwA0rygKEFV0uTsmbRfd66gYwc21R9fI6ukHFowzKyfsZ7w5yH25kW1Tze6HAq1uBGL5PkEY5OGyx75WHMCWZV6Is6oILhtCXC3SvepDO24CKeobLdc1ZjR_ABaLO_4HCYWBwOniwDuP3CPlC0DGkFMHeVc-ZnE0hF1NINIX8bQrZIOnF333fUf64AAFiASRM-T1EeRWmiBZI_5P9BbVSxDo</recordid><startdate>20220801</startdate><enddate>20220801</enddate><creator>Chowdhury, Shahryar</creator><creator>Jackson, Lanier</creator><creator>Byrne, Barry J.</creator><creator>Bryant, Randall M.</creator><creator>Cade, W. Todd</creator><creator>Churchill, Tammy Lane</creator><creator>Buchanan, Julia</creator><creator>Taylor, Carolyn</creator><general>Springer US</general><general>Springer</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0003-2583-3124</orcidid></search><sort><creationdate>20220801</creationdate><title>Longitudinal Observational Study of Cardiac Outcome Risk Factor Prediction in Children, Adolescents, and Adults with Barth Syndrome</title><author>Chowdhury, Shahryar ; Jackson, Lanier ; Byrne, Barry J. ; Bryant, Randall M. ; Cade, W. Todd ; Churchill, Tammy Lane ; Buchanan, Julia ; Taylor, Carolyn</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c513t-7aa69b13fc9e91b001ec4ef057e8c1538c0f0dffac1e6e69bf6e1d0454e3f3b23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Barth Syndrome - genetics</topic><topic>Cardiac Surgery</topic><topic>Cardiolipin</topic><topic>Cardiolipins</topic><topic>Cardiology</topic><topic>Children's furniture</topic><topic>Echocardiography</topic><topic>Electrocardiogram</topic><topic>Electrocardiography</topic><topic>Heart</topic><topic>Heart Ventricles - diagnostic imaging</topic><topic>Humans</topic><topic>Medical research</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Medicine, Experimental</topic><topic>Membrane lipids</topic><topic>Mortality</topic><topic>Original Article</topic><topic>Risk Factors</topic><topic>Stroke Volume - physiology</topic><topic>Vascular Surgery</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chowdhury, Shahryar</creatorcontrib><creatorcontrib>Jackson, Lanier</creatorcontrib><creatorcontrib>Byrne, Barry J.</creatorcontrib><creatorcontrib>Bryant, Randall M.</creatorcontrib><creatorcontrib>Cade, W. Todd</creatorcontrib><creatorcontrib>Churchill, Tammy Lane</creatorcontrib><creatorcontrib>Buchanan, Julia</creatorcontrib><creatorcontrib>Taylor, Carolyn</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Pediatric cardiology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chowdhury, Shahryar</au><au>Jackson, Lanier</au><au>Byrne, Barry J.</au><au>Bryant, Randall M.</au><au>Cade, W. Todd</au><au>Churchill, Tammy Lane</au><au>Buchanan, Julia</au><au>Taylor, Carolyn</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Longitudinal Observational Study of Cardiac Outcome Risk Factor Prediction in Children, Adolescents, and Adults with Barth Syndrome</atitle><jtitle>Pediatric cardiology</jtitle><stitle>Pediatr Cardiol</stitle><addtitle>Pediatr Cardiol</addtitle><date>2022-08-01</date><risdate>2022</risdate><volume>43</volume><issue>6</issue><spage>1251</spage><epage>1263</epage><pages>1251-1263</pages><issn>0172-0643</issn><eissn>1432-1971</eissn><abstract>Barth Syndrome (BTHS) is an X-linked mitochondrial cardioskeletal myopathy caused by defects in
TAFAZZIN
, a gene responsible for cardiolipin remodeling. Altered mitochondrial levels of cardiolipin lead to cardiomyopathy (CM), muscle weakness, exercise intolerance, and mortality. Cardiac risk factors predicting outcome are unknown. Therefore, we conducted a longitudinal observational study to determine risk factors for outcome in BTHS. Subjects with minimum two evaluations (or one followed by death or transplant) were included. Cardiac size, function, and QTc data were measured by echocardiography and electrocardiography at 7 time points from 2002 to 2018. Analysis included baseline, continuous, and categorical variables. Categorical risk factors included prolonged QTc, abnormal right ventricle fractional area change (RV FAC), left ventricle (LV) or RV non-compaction, and restrictive CM phenotype. The association between variables and cardiac death or transplant (CD/TX) was assessed. Median enrollment age was 7 years (range 0.5–22;
n
= 44). Transplant-free survival (TFS) was 74.4% at 15 years from first evaluation. The cohort demonstrated longitudinal declines in LV size and stroke volume z-scores (end-diastolic volume,
p
= 0.0002; stroke volume
p
< 0.0001), worsening RV FAC (
p
= 0.0405), and global longitudinal strain (GLS) (
p
= 0.0001) with stable ejection (EF) and shortening (FS) fraction. CD/TX subjects (
n
= 9) displayed worsening LV dilation (
p
= 0.0066), EF (
p
≤ 0.0001), FS (
p
= 0.0028), and RV FAC (
p
= .0032) versus stability in TFS. Having ≥ 2 categorical risk factors predicted CD/TX (
p
= 0.0073). Over 15 years, 25% of BTHS subjects progressed to CD/TX. Those with progressive LV enlargement, dysfunction, and multiple cardiac risk factors warrant increased surveillance and intense therapy.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>35238957</pmid><doi>10.1007/s00246-022-02846-8</doi><tpages>13</tpages><orcidid>https://orcid.org/0000-0003-2583-3124</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0172-0643 |
| ispartof | Pediatric cardiology, 2022-08, Vol.43 (6), p.1251-1263 |
| issn | 0172-0643 1432-1971 |
| language | eng |
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| source | MEDLINE; Springer Nature - Complete Springer Journals |
| subjects | Barth Syndrome - genetics Cardiac Surgery Cardiolipin Cardiolipins Cardiology Children's furniture Echocardiography Electrocardiogram Electrocardiography Heart Heart Ventricles - diagnostic imaging Humans Medical research Medicine Medicine & Public Health Medicine, Experimental Membrane lipids Mortality Original Article Risk Factors Stroke Volume - physiology Vascular Surgery |
| title | Longitudinal Observational Study of Cardiac Outcome Risk Factor Prediction in Children, Adolescents, and Adults with Barth Syndrome |
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