Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia
Identifieur interne : 001E51 ( Main/Exploration ); précédent : 001E50; suivant : 001E52Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia
Auteurs : Bheeshma Rajagopalan [Royaume-Uni] ; Jane M. Francis [Royaume-Uni] ; Fraser Cooke [Royaume-Uni] ; L. V. Prasad Korlipara [Royaume-Uni] ; Andrew M. Blamire [Royaume-Uni] ; Anthony H. V. Schapira [Royaume-Uni] ; Jason Madan [Royaume-Uni] ; Stefan Neubauer [Royaume-Uni] ; J. Mark Cooper [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-05-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Ataxia, Cardiomegaly (epidemiology), Cardiomegaly (genetics), Cardiomegaly (pathology), Cardiomyopathy, Electrocardiography, Factor analysis, Female, Friederich's ataxia, Friedreich Ataxia (epidemiology), Friedreich ataxia, Genotype, Humans, Iron-Binding Proteins (genetics), Magnetic Resonance Imaging, Male, Membrane Glycoproteins (genetics), Nervous system diseases, Nuclear magnetic resonance imaging, Phenotype, Point Mutation (genetics), Risk Factors, Time Factors, Trinucleotide Repeats (genetics), cardiomyopathy, genetics, magnetic resonance imaging.
- 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. © 2010 Movement Disorder Society
Url:
DOI: 10.1002/mds.22864
Affiliations:
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-05-15">2010-05-15</date><biblScope unit="vol">25</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="846">846</biblScope><biblScope unit="page" to="852">852</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">21347EE11B51FE483AFF7ECDED47A3A39E71D591</idno><idno type="DOI">10.1002/mds.22864</idno><idno type="ArticleID">MDS22864</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Ataxia</term><term>Cardiomegaly (epidemiology)</term><term>Cardiomegaly (genetics)</term><term>Cardiomegaly (pathology)</term><term>Cardiomyopathy</term><term>Electrocardiography</term><term>Factor analysis</term><term>Female</term><term>Friederich's ataxia</term><term>Friedreich Ataxia (epidemiology)</term><term>Friedreich ataxia</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>Nervous system diseases</term><term>Nuclear magnetic resonance imaging</term><term>Phenotype</term><term>Point Mutation (genetics)</term><term>Risk Factors</term><term>Time Factors</term><term>Trinucleotide Repeats (genetics)</term><term>cardiomyopathy</term><term>genetics</term><term>magnetic resonance imaging</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><keywords scheme="Pascal" xml:lang="fr"><term>Analyse factorielle</term><term>Ataxie</term><term>Cardiomyopathie</term><term>Hérédodégénérescence spinocérébelleuse de Friedreich</term><term>Imagerie RMN</term><term>Pathologie du système nerveux</term><term>Phénotype</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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. © 2010 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Oxfordshire</li></region><settlement><li>Londres</li><li>Oxford</li></settlement><orgName><li>Université d'Oxford</li></orgName></list><tree><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><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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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