Cardiomyopathy in Friedreich's ataxia-assessment by cardiac MRI.
Identifieur interne : 002929 ( PubMed/Checkpoint ); précédent : 002928; suivant : 002930Cardiomyopathy in Friedreich's ataxia-assessment by cardiac MRI.
Auteurs : Chris Meyer [Allemagne] ; Gebhard Schmid ; Sabine Görlitz ; Monika Ernst ; Christian Wilkens ; Inga Wilhelms ; Peter H. Kraus ; Peter Bauer ; Jürgen Tomiuk ; Horst Przuntek ; Andreas Mügge ; Ludger SchölsSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- Adolescent, Adult, Cardiomyopathies (etiology), Cardiomyopathies (genetics), Cardiomyopathies (pathology), Case-Control Studies, Echocardiography, Female, Friedreich Ataxia (complications), Friedreich Ataxia (genetics), Heart Septum (pathology), Heart Ventricles (pathology), Humans, Longitudinal Studies, Magnetic Resonance Imaging, Middle Aged, Myocardium (pathology), Trinucleotide Repeats (genetics).
- MESH :
- complications : Friedreich Ataxia.
- etiology : Cardiomyopathies.
- genetics : Cardiomyopathies, Friedreich Ataxia, Trinucleotide Repeats.
- pathology : Cardiomyopathies, Heart Septum, Heart Ventricles, Myocardium.
- Adolescent, Adult, Case-Control Studies, Echocardiography, Female, Humans, Longitudinal Studies, Magnetic Resonance Imaging, Middle Aged.
Abstract
Cardiomyopathy is an important and frequently life limiting manifestation of Friedreich's ataxia (FA), the most prevalent form of autosomal recessive ataxia. Left ventricular mass is used as primary outcome measure in recent intervention studies but systematic analyses of FA cardiomyopathy are sparse. To assess cardiac hypertrophy by cardiac magnetic resonance imaging (MRI) in vivo, we assessed 41 adult patients with genetically confirmed FA and 33 age- and sex-matched healthy controls by cardiac MRI and echocardiogarphy. Septal hypertrophy and left ventricular mass index were determined by two independent raters. MRI revealed hypertrophy of the interventricular septum in 40% and increased left ventricular mass index in 29% of patients. Interobserver variability was less than 5% for both measures. GAA repeat length had only minor influence on interventricular septum thickness. Left ventricular mass index decreased with age. Severity of ataxia did not correlate with cardiac disease. In echocardiography wall diameter was assessable only in 31 of 41 FA patients with 32% of patients presenting septal hypertrophy and 6% increased left ventricular mass index. We conclude that cardiac hypertrophy is present only in a minority of adult FA patients. If despite this limitation intervention studies use left ventricular mass as outcome measure, MRI is recommended as the most accurate assessment of cardiac anatomy in vivo.
DOI: 10.1002/mds.21590
PubMed: 17546670
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Cardiomyopathy in Friedreich's ataxia-assessment by cardiac MRI.</title><author><name sortKey="Meyer, Chris" sort="Meyer, Chris" uniqKey="Meyer C" first="Chris" last="Meyer">Chris Meyer</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, St. Josef Hospital, Ruhr-University Bochum, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, St. Josef Hospital, Ruhr-University Bochum</wicri:regionArea><wicri:noRegion>Ruhr-University Bochum</wicri:noRegion><wicri:noRegion>Ruhr-University Bochum</wicri:noRegion><wicri:noRegion>Ruhr-University Bochum</wicri:noRegion></affiliation></author><author><name sortKey="Schmid, Gebhard" sort="Schmid, Gebhard" uniqKey="Schmid G" first="Gebhard" last="Schmid">Gebhard Schmid</name></author><author><name sortKey="Gorlitz, Sabine" sort="Gorlitz, Sabine" uniqKey="Gorlitz S" first="Sabine" last="Görlitz">Sabine Görlitz</name></author><author><name sortKey="Ernst, Monika" sort="Ernst, Monika" uniqKey="Ernst M" first="Monika" last="Ernst">Monika Ernst</name></author><author><name sortKey="Wilkens, Christian" sort="Wilkens, Christian" uniqKey="Wilkens C" first="Christian" last="Wilkens">Christian Wilkens</name></author><author><name sortKey="Wilhelms, Inga" sort="Wilhelms, Inga" uniqKey="Wilhelms I" first="Inga" last="Wilhelms">Inga Wilhelms</name></author><author><name sortKey="Kraus, Peter H" sort="Kraus, Peter H" uniqKey="Kraus P" first="Peter H" last="Kraus">Peter H. Kraus</name></author><author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name></author><author><name sortKey="Tomiuk, Jurgen" sort="Tomiuk, Jurgen" uniqKey="Tomiuk J" first="Jürgen" last="Tomiuk">Jürgen Tomiuk</name></author><author><name sortKey="Przuntek, Horst" sort="Przuntek, Horst" uniqKey="Przuntek H" first="Horst" last="Przuntek">Horst Przuntek</name></author><author><name sortKey="Mugge, Andreas" sort="Mugge, Andreas" uniqKey="Mugge A" first="Andreas" last="Mügge">Andreas Mügge</name></author><author><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21590</idno><idno type="RBID">pubmed:17546670</idno><idno type="pmid">17546670</idno><idno type="wicri:Area/PubMed/Corpus">002657</idno><idno type="wicri:Area/PubMed/Curation">002657</idno><idno type="wicri:Area/PubMed/Checkpoint">002929</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Cardiomyopathy in Friedreich's ataxia-assessment by cardiac MRI.</title><author><name sortKey="Meyer, Chris" sort="Meyer, Chris" uniqKey="Meyer C" first="Chris" last="Meyer">Chris Meyer</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, St. Josef Hospital, Ruhr-University Bochum, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, St. Josef Hospital, Ruhr-University Bochum</wicri:regionArea><wicri:noRegion>Ruhr-University Bochum</wicri:noRegion><wicri:noRegion>Ruhr-University Bochum</wicri:noRegion><wicri:noRegion>Ruhr-University Bochum</wicri:noRegion></affiliation></author><author><name sortKey="Schmid, Gebhard" sort="Schmid, Gebhard" uniqKey="Schmid G" first="Gebhard" last="Schmid">Gebhard Schmid</name></author><author><name sortKey="Gorlitz, Sabine" sort="Gorlitz, Sabine" uniqKey="Gorlitz S" first="Sabine" last="Görlitz">Sabine Görlitz</name></author><author><name sortKey="Ernst, Monika" sort="Ernst, Monika" uniqKey="Ernst M" first="Monika" last="Ernst">Monika Ernst</name></author><author><name sortKey="Wilkens, Christian" sort="Wilkens, Christian" uniqKey="Wilkens C" first="Christian" last="Wilkens">Christian Wilkens</name></author><author><name sortKey="Wilhelms, Inga" sort="Wilhelms, Inga" uniqKey="Wilhelms I" first="Inga" last="Wilhelms">Inga Wilhelms</name></author><author><name sortKey="Kraus, Peter H" sort="Kraus, Peter H" uniqKey="Kraus P" first="Peter H" last="Kraus">Peter H. Kraus</name></author><author><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name></author><author><name sortKey="Tomiuk, Jurgen" sort="Tomiuk, Jurgen" uniqKey="Tomiuk J" first="Jürgen" last="Tomiuk">Jürgen Tomiuk</name></author><author><name sortKey="Przuntek, Horst" sort="Przuntek, Horst" uniqKey="Przuntek H" first="Horst" last="Przuntek">Horst Przuntek</name></author><author><name sortKey="Mugge, Andreas" sort="Mugge, Andreas" uniqKey="Mugge A" first="Andreas" last="Mügge">Andreas Mügge</name></author><author><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Cardiomyopathies (etiology)</term><term>Cardiomyopathies (genetics)</term><term>Cardiomyopathies (pathology)</term><term>Case-Control Studies</term><term>Echocardiography</term><term>Female</term><term>Friedreich Ataxia (complications)</term><term>Friedreich Ataxia (genetics)</term><term>Heart Septum (pathology)</term><term>Heart Ventricles (pathology)</term><term>Humans</term><term>Longitudinal Studies</term><term>Magnetic Resonance Imaging</term><term>Middle Aged</term><term>Myocardium (pathology)</term><term>Trinucleotide Repeats (genetics)</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Friedreich Ataxia</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Cardiomyopathies</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cardiomyopathies</term><term>Friedreich Ataxia</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Cardiomyopathies</term><term>Heart Septum</term><term>Heart Ventricles</term><term>Myocardium</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Case-Control Studies</term><term>Echocardiography</term><term>Female</term><term>Humans</term><term>Longitudinal Studies</term><term>Magnetic Resonance Imaging</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Cardiomyopathy is an important and frequently life limiting manifestation of Friedreich's ataxia (FA), the most prevalent form of autosomal recessive ataxia. Left ventricular mass is used as primary outcome measure in recent intervention studies but systematic analyses of FA cardiomyopathy are sparse. To assess cardiac hypertrophy by cardiac magnetic resonance imaging (MRI) in vivo, we assessed 41 adult patients with genetically confirmed FA and 33 age- and sex-matched healthy controls by cardiac MRI and echocardiogarphy. Septal hypertrophy and left ventricular mass index were determined by two independent raters. MRI revealed hypertrophy of the interventricular septum in 40% and increased left ventricular mass index in 29% of patients. Interobserver variability was less than 5% for both measures. GAA repeat length had only minor influence on interventricular septum thickness. Left ventricular mass index decreased with age. Severity of ataxia did not correlate with cardiac disease. In echocardiography wall diameter was assessable only in 31 of 41 FA patients with 32% of patients presenting septal hypertrophy and 6% increased left ventricular mass index. We conclude that cardiac hypertrophy is present only in a minority of adult FA patients. If despite this limitation intervention studies use left ventricular mass as outcome measure, MRI is recommended as the most accurate assessment of cardiac anatomy in vivo.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17546670</PMID><DateCreated><Year>2007</Year><Month>09</Month><Day>05</Day></DateCreated><DateCompleted><Year>2007</Year><Month>11</Month><Day>28</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>22</Volume><Issue>11</Issue><PubDate><Year>2007</Year><Month>Aug</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Cardiomyopathy in Friedreich's ataxia-assessment by cardiac MRI.</ArticleTitle><Pagination><MedlinePgn>1615-22</MedlinePgn></Pagination><Abstract><AbstractText>Cardiomyopathy is an important and frequently life limiting manifestation of Friedreich's ataxia (FA), the most prevalent form of autosomal recessive ataxia. Left ventricular mass is used as primary outcome measure in recent intervention studies but systematic analyses of FA cardiomyopathy are sparse. To assess cardiac hypertrophy by cardiac magnetic resonance imaging (MRI) in vivo, we assessed 41 adult patients with genetically confirmed FA and 33 age- and sex-matched healthy controls by cardiac MRI and echocardiogarphy. Septal hypertrophy and left ventricular mass index were determined by two independent raters. MRI revealed hypertrophy of the interventricular septum in 40% and increased left ventricular mass index in 29% of patients. Interobserver variability was less than 5% for both measures. GAA repeat length had only minor influence on interventricular septum thickness. Left ventricular mass index decreased with age. Severity of ataxia did not correlate with cardiac disease. In echocardiography wall diameter was assessable only in 31 of 41 FA patients with 32% of patients presenting septal hypertrophy and 6% increased left ventricular mass index. We conclude that cardiac hypertrophy is present only in a minority of adult FA patients. If despite this limitation intervention studies use left ventricular mass as outcome measure, MRI is recommended as the most accurate assessment of cardiac anatomy in vivo.</AbstractText><CopyrightInformation>Copyright (c) 2007 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Meyer</LastName><ForeName>Chris</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Neurology, St. Josef Hospital, Ruhr-University Bochum, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schmid</LastName><ForeName>Gebhard</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Görlitz</LastName><ForeName>Sabine</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Ernst</LastName><ForeName>Monika</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Wilkens</LastName><ForeName>Christian</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Wilhelms</LastName><ForeName>Inga</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Kraus</LastName><ForeName>Peter H</ForeName><Initials>PH</Initials></Author><Author ValidYN="Y"><LastName>Bauer</LastName><ForeName>Peter</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Tomiuk</LastName><ForeName>Jürgen</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Przuntek</LastName><ForeName>Horst</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Mügge</LastName><ForeName>Andreas</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Schöls</LastName><ForeName>Ludger</ForeName><Initials>L</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009202">Cardiomyopathies</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000209">etiology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016022">Case-Control Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004452">Echocardiography</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005621">Friedreich Ataxia</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006346">Heart Septum</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006352">Heart Ventricles</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008137">Longitudinal Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D008279">Magnetic Resonance Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009206">Myocardium</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018911">Trinucleotide Repeats</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>6</Month><Day>5</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>12</Month><Day>6</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>6</Month><Day>5</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21590</ArticleId><ArticleId IdType="pubmed">17546670</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Allemagne</li></country></list><tree><noCountry><name sortKey="Bauer, Peter" sort="Bauer, Peter" uniqKey="Bauer P" first="Peter" last="Bauer">Peter Bauer</name><name sortKey="Ernst, Monika" sort="Ernst, Monika" uniqKey="Ernst M" first="Monika" last="Ernst">Monika Ernst</name><name sortKey="Gorlitz, Sabine" sort="Gorlitz, Sabine" uniqKey="Gorlitz S" first="Sabine" last="Görlitz">Sabine Görlitz</name><name sortKey="Kraus, Peter H" sort="Kraus, Peter H" uniqKey="Kraus P" first="Peter H" last="Kraus">Peter H. Kraus</name><name sortKey="Mugge, Andreas" sort="Mugge, Andreas" uniqKey="Mugge A" first="Andreas" last="Mügge">Andreas Mügge</name><name sortKey="Przuntek, Horst" sort="Przuntek, Horst" uniqKey="Przuntek H" first="Horst" last="Przuntek">Horst Przuntek</name><name sortKey="Schmid, Gebhard" sort="Schmid, Gebhard" uniqKey="Schmid G" first="Gebhard" last="Schmid">Gebhard Schmid</name><name sortKey="Schols, Ludger" sort="Schols, Ludger" uniqKey="Schols L" first="Ludger" last="Schöls">Ludger Schöls</name><name sortKey="Tomiuk, Jurgen" sort="Tomiuk, Jurgen" uniqKey="Tomiuk J" first="Jürgen" last="Tomiuk">Jürgen Tomiuk</name><name sortKey="Wilhelms, Inga" sort="Wilhelms, Inga" uniqKey="Wilhelms I" first="Inga" last="Wilhelms">Inga Wilhelms</name><name sortKey="Wilkens, Christian" sort="Wilkens, Christian" uniqKey="Wilkens C" first="Christian" last="Wilkens">Christian Wilkens</name></noCountry><country name="Allemagne"><noRegion><name sortKey="Meyer, Chris" sort="Meyer, Chris" uniqKey="Meyer C" first="Chris" last="Meyer">Chris Meyer</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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