Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia.
Identifieur interne : 002B65 ( Ncbi/Merge ); précédent : 002B64; suivant : 002B66Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia.
Auteurs : Bheeshma Rajagopalan [Royaume-Uni] ; Jane M. Francis ; Fraser Cooke ; L V Prasad Korlipara ; Andrew M. Blamire ; Anthony H V. Schapira ; Jason Madan ; Stefan Neubauer ; J Mark CooperSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- Adult, Cardiomegaly (epidemiology), Cardiomegaly (genetics), Cardiomegaly (pathology), Electrocardiography, Female, Friedreich Ataxia (epidemiology), Genotype, Humans, Iron-Binding Proteins (genetics), Magnetic Resonance Imaging, Male, Membrane Glycoproteins (genetics), Phenotype, Point Mutation (genetics), Risk Factors, Time Factors, Trinucleotide Repeats (genetics).
- MESH :
- chemical , genetics : Iron-Binding Proteins, Membrane Glycoproteins.
- epidemiology : Cardiomegaly, Friedreich Ataxia.
- genetics : Cardiomegaly, Point Mutation, Trinucleotide Repeats.
- pathology : Cardiomegaly.
- Adult, Electrocardiography, Female, Genotype, Humans, Magnetic Resonance Imaging, Male, Phenotype, Risk Factors, Time Factors.
Abstract
Friedreich's ataxia (FRDA) has been associated with both cardiac hypertrophy and to a lesser degree dilated cardiomyopathy. We have conducted a cross sectional magnetic resonance imaging (MRI) study of 25 patients with clinically and genetically confirmed FRDA and 24 healthy controls to analyse how disease parameters influence cardiac features in FRDA. MR cine imaging in the long and short axis planes was performed alongside clinical assessments. LV mass was most pronounced in FRDA patients with a larger genetic mutation (GAA1 repeats >600), earlier age of onset (<16years) and a shorter disease duration (<15 years). LV mass decreased with longer disease duration (>15 years), and independent of GAA1 repeat size and age of onset, suggesting cardiac thinning occurred with prolonged disease. Heart function was lower in patients with larger GAA1 repeat number and longer disease duration. Consequently, cardiac hypertrophy was more marked in FRDA patients with a larger GAA1 repeat number and younger age of onset, while prolonged disease duration was associated with lower LV mass and decreased heart function. It is important not only to understand the biochemical basis for these cardiac changes but also allow for these changes when assessing the effect of treatment of FRDA patients.
DOI: 10.1002/mds.22864
PubMed: 20461801
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Francis</name></author><author><name sortKey="Cooke, Fraser" sort="Cooke, Fraser" uniqKey="Cooke F" first="Fraser" last="Cooke">Fraser Cooke</name></author><author><name sortKey="Korlipara, L V Prasad" sort="Korlipara, L V Prasad" uniqKey="Korlipara L" first="L V Prasad" last="Korlipara">L V Prasad Korlipara</name></author><author><name sortKey="Blamire, Andrew M" sort="Blamire, Andrew M" uniqKey="Blamire A" first="Andrew M" last="Blamire">Andrew M. Blamire</name></author><author><name sortKey="Schapira, Anthony H V" sort="Schapira, Anthony H V" uniqKey="Schapira A" first="Anthony H V" last="Schapira">Anthony H V. Schapira</name></author><author><name sortKey="Madan, Jason" sort="Madan, Jason" uniqKey="Madan J" first="Jason" last="Madan">Jason Madan</name></author><author><name sortKey="Neubauer, Stefan" sort="Neubauer, Stefan" uniqKey="Neubauer S" first="Stefan" last="Neubauer">Stefan Neubauer</name></author><author><name sortKey="Cooper, J Mark" sort="Cooper, J Mark" uniqKey="Cooper J" first="J Mark" last="Cooper">J Mark Cooper</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Cardiomegaly (epidemiology)</term><term>Cardiomegaly (genetics)</term><term>Cardiomegaly (pathology)</term><term>Electrocardiography</term><term>Female</term><term>Friedreich Ataxia (epidemiology)</term><term>Genotype</term><term>Humans</term><term>Iron-Binding Proteins (genetics)</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Membrane Glycoproteins (genetics)</term><term>Phenotype</term><term>Point Mutation (genetics)</term><term>Risk Factors</term><term>Time Factors</term><term>Trinucleotide Repeats (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Iron-Binding Proteins</term><term>Membrane Glycoproteins</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Cardiomegaly</term><term>Friedreich Ataxia</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cardiomegaly</term><term>Point Mutation</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Cardiomegaly</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Electrocardiography</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Phenotype</term><term>Risk Factors</term><term>Time Factors</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Friedreich's ataxia (FRDA) has been associated with both cardiac hypertrophy and to a lesser degree dilated cardiomyopathy. We have conducted a cross sectional magnetic resonance imaging (MRI) study of 25 patients with clinically and genetically confirmed FRDA and 24 healthy controls to analyse how disease parameters influence cardiac features in FRDA. MR cine imaging in the long and short axis planes was performed alongside clinical assessments. LV mass was most pronounced in FRDA patients with a larger genetic mutation (GAA1 repeats >600), earlier age of onset (<16years) and a shorter disease duration (<15 years). LV mass decreased with longer disease duration (>15 years), and independent of GAA1 repeat size and age of onset, suggesting cardiac thinning occurred with prolonged disease. Heart function was lower in patients with larger GAA1 repeat number and longer disease duration. Consequently, cardiac hypertrophy was more marked in FRDA patients with a larger GAA1 repeat number and younger age of onset, while prolonged disease duration was associated with lower LV mass and decreased heart function. It is important not only to understand the biochemical basis for these cardiac changes but also allow for these changes when assessing the effect of treatment of FRDA patients.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">20461801</PMID><DateCreated><Year>2010</Year><Month>05</Month><Day>12</Day></DateCreated><DateCompleted><Year>2010</Year><Month>08</Month><Day>17</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>25</Volume><Issue>7</Issue><PubDate><Year>2010</Year><Month>May</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. 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LV mass decreased with longer disease duration (>15 years), and independent of GAA1 repeat size and age of onset, suggesting cardiac thinning occurred with prolonged disease. Heart function was lower in patients with larger GAA1 repeat number and longer disease duration. Consequently, cardiac hypertrophy was more marked in FRDA patients with a larger GAA1 repeat number and younger age of onset, while prolonged disease duration was associated with lower LV mass and decreased heart function. It is important not only to understand the biochemical basis for these cardiac changes but also allow for these changes when assessing the effect of treatment of FRDA patients.</AbstractText><CopyrightInformation>(c) 2010 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Rajagopalan</LastName><ForeName>Bheeshma</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Nuffield Department of Medicine, Department of Biochemistry, University of Oxford, Oxford, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Francis</LastName><ForeName>Jane M</ForeName><Initials>JM</Initials></Author><Author ValidYN="Y"><LastName>Cooke</LastName><ForeName>Fraser</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Korlipara</LastName><ForeName>L V Prasad</ForeName><Initials>LV</Initials></Author><Author ValidYN="Y"><LastName>Blamire</LastName><ForeName>Andrew M</ForeName><Initials>AM</Initials></Author><Author ValidYN="Y"><LastName>Schapira</LastName><ForeName>Anthony H V</ForeName><Initials>AH</Initials></Author><Author ValidYN="Y"><LastName>Madan</LastName><ForeName>Jason</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Neubauer</LastName><ForeName>Stefan</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Cooper</LastName><ForeName>J Mark</ForeName><Initials>JM</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant></GrantList><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><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C093316">GPAA1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D033862">Iron-Binding Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D008562">Membrane Glycoproteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C098527">frataxin</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D006332">Cardiomegaly</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName><QualifierName MajorTopicYN="N" 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Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008562">Membrane Glycoproteins</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017354">Point Mutation</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012307">Risk Factors</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013997">Time Factors</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018911">Trinucleotide Repeats</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>5</Month><Day>13</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>5</Month><Day>13</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2010</Year><Month>8</Month><Day>18</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22864</ArticleId><ArticleId IdType="pubmed">20461801</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Oxfordshire</li></region><settlement><li>Oxford</li></settlement><orgName><li>Université d'Oxford</li></orgName></list><tree><noCountry><name sortKey="Blamire, Andrew M" sort="Blamire, Andrew M" uniqKey="Blamire A" first="Andrew M" last="Blamire">Andrew M. Blamire</name><name sortKey="Cooke, Fraser" sort="Cooke, Fraser" uniqKey="Cooke F" first="Fraser" last="Cooke">Fraser Cooke</name><name sortKey="Cooper, J Mark" sort="Cooper, J Mark" uniqKey="Cooper J" first="J Mark" last="Cooper">J Mark Cooper</name><name sortKey="Francis, Jane M" sort="Francis, Jane M" uniqKey="Francis J" first="Jane M" last="Francis">Jane M. Francis</name><name sortKey="Korlipara, L V Prasad" sort="Korlipara, L V Prasad" uniqKey="Korlipara L" first="L V Prasad" last="Korlipara">L V Prasad Korlipara</name><name sortKey="Madan, Jason" sort="Madan, Jason" uniqKey="Madan J" first="Jason" last="Madan">Jason Madan</name><name sortKey="Neubauer, Stefan" sort="Neubauer, Stefan" uniqKey="Neubauer S" first="Stefan" last="Neubauer">Stefan Neubauer</name><name sortKey="Schapira, Anthony H V" sort="Schapira, Anthony H V" uniqKey="Schapira A" first="Anthony H V" last="Schapira">Anthony H V. Schapira</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Rajagopalan, Bheeshma" sort="Rajagopalan, Bheeshma" uniqKey="Rajagopalan B" first="Bheeshma" last="Rajagopalan">Bheeshma Rajagopalan</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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