Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA.
Identifieur interne : 000B04 ( PubMed/Corpus ); précédent : 000B03; suivant : 000B05Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA.
Auteurs : K. Wahbi ; S. Larue ; C. Jardel ; C. Meune ; T. Stojkovic ; F. Ziegler ; A. Lombès ; B. Eymard ; D. Duboc ; P. LaforêtSource :
- Neurology [ 1526-632X ] ; 2010.
English descriptors
- KwdEn :
- Adult, Arrhythmias, Cardiac (complications), Arrhythmias, Cardiac (diagnosis), Arrhythmias, Cardiac (genetics), DNA, Mitochondrial (genetics), Echocardiography, Electrocardiography, Female, Heart Failure (complications), Heart Failure (diagnosis), Heart Failure (genetics), Humans, MERRF Syndrome (complications), MERRF Syndrome (genetics), Male, Middle Aged, Mutation, Neurologic Examination, Retrospective Studies, Ventricular Dysfunction, Left (complications), Ventricular Dysfunction, Left (diagnosis), Ventricular Dysfunction, Left (genetics).
- MESH :
- chemical , genetics : DNA, Mitochondrial.
- complications : Arrhythmias, Cardiac, Heart Failure, MERRF Syndrome, Ventricular Dysfunction, Left.
- diagnosis : Arrhythmias, Cardiac, Heart Failure, Ventricular Dysfunction, Left.
- genetics : Arrhythmias, Cardiac, Heart Failure, MERRF Syndrome, Ventricular Dysfunction, Left.
- Adult, Echocardiography, Electrocardiography, Female, Humans, Male, Middle Aged, Mutation, Neurologic Examination, Retrospective Studies.
Abstract
Cardiac complications, such as myocardial disease and arrhythmias, are frequent and may be severe in patients with mitochondrial disease. We sought to determine the prevalence and the prognostic value of cardiac abnormalities in a series of patients carrying the m.8344 A>G mutation.
DOI: 10.1212/WNL.0b013e3181d0ccf4
PubMed: 20177121
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pubmed:20177121Le document en format XML
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Stojkovic</name></author><author><name sortKey="Ziegler, F" sort="Ziegler, F" uniqKey="Ziegler F" first="F" last="Ziegler">F. Ziegler</name></author><author><name sortKey="Lombes, A" sort="Lombes, A" uniqKey="Lombes A" first="A" last="Lombès">A. Lombès</name></author><author><name sortKey="Eymard, B" sort="Eymard, B" uniqKey="Eymard B" first="B" last="Eymard">B. Eymard</name></author><author><name sortKey="Duboc, D" sort="Duboc, D" uniqKey="Duboc D" first="D" last="Duboc">D. Duboc</name></author><author><name sortKey="Laforet, P" sort="Laforet, P" uniqKey="Laforet P" first="P" last="Laforêt">P. Laforêt</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2010">2010</date><idno type="RBID">pubmed:20177121</idno><idno type="pmid">20177121</idno><idno type="doi">10.1212/WNL.0b013e3181d0ccf4</idno><idno type="wicri:Area/PubMed/Corpus">000B04</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000B04</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA.</title><author><name sortKey="Wahbi, K" sort="Wahbi, K" uniqKey="Wahbi K" first="K" last="Wahbi">K. Wahbi</name><affiliation><nlm:affiliation>Myology Institute, Pitié-Salpêtrière Hospital 47-83, boulevard de l'Hôpital, 75651 Paris Cedex 13, France. karim.wahbi@psl.aphp.fr</nlm:affiliation></affiliation></author><author><name sortKey="Larue, S" sort="Larue, S" uniqKey="Larue S" first="S" last="Larue">S. Larue</name></author><author><name sortKey="Jardel, C" sort="Jardel, C" uniqKey="Jardel C" first="C" last="Jardel">C. Jardel</name></author><author><name sortKey="Meune, C" sort="Meune, C" uniqKey="Meune C" first="C" last="Meune">C. Meune</name></author><author><name sortKey="Stojkovic, T" sort="Stojkovic, T" uniqKey="Stojkovic T" first="T" last="Stojkovic">T. Stojkovic</name></author><author><name sortKey="Ziegler, F" sort="Ziegler, F" uniqKey="Ziegler F" first="F" last="Ziegler">F. Ziegler</name></author><author><name sortKey="Lombes, A" sort="Lombes, A" uniqKey="Lombes A" first="A" last="Lombès">A. Lombès</name></author><author><name sortKey="Eymard, B" sort="Eymard, B" uniqKey="Eymard B" first="B" last="Eymard">B. Eymard</name></author><author><name sortKey="Duboc, D" sort="Duboc, D" uniqKey="Duboc D" first="D" last="Duboc">D. Duboc</name></author><author><name sortKey="Laforet, P" sort="Laforet, P" uniqKey="Laforet P" first="P" last="Laforêt">P. Laforêt</name></author></analytic><series><title level="j">Neurology</title><idno type="eISSN">1526-632X</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>Arrhythmias, Cardiac (complications)</term><term>Arrhythmias, Cardiac (diagnosis)</term><term>Arrhythmias, Cardiac (genetics)</term><term>DNA, Mitochondrial (genetics)</term><term>Echocardiography</term><term>Electrocardiography</term><term>Female</term><term>Heart Failure (complications)</term><term>Heart Failure (diagnosis)</term><term>Heart Failure (genetics)</term><term>Humans</term><term>MERRF Syndrome (complications)</term><term>MERRF Syndrome (genetics)</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Neurologic Examination</term><term>Retrospective Studies</term><term>Ventricular Dysfunction, Left (complications)</term><term>Ventricular Dysfunction, Left (diagnosis)</term><term>Ventricular Dysfunction, Left (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA, Mitochondrial</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Arrhythmias, Cardiac</term><term>Heart Failure</term><term>MERRF Syndrome</term><term>Ventricular Dysfunction, Left</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Arrhythmias, Cardiac</term><term>Heart Failure</term><term>Ventricular Dysfunction, Left</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Arrhythmias, Cardiac</term><term>Heart Failure</term><term>MERRF Syndrome</term><term>Ventricular Dysfunction, Left</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Echocardiography</term><term>Electrocardiography</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Neurologic Examination</term><term>Retrospective Studies</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Cardiac complications, such as myocardial disease and arrhythmias, are frequent and may be severe in patients with mitochondrial disease. We sought to determine the prevalence and the prognostic value of cardiac abnormalities in a series of patients carrying the m.8344 A>G mutation.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">20177121</PMID><DateCreated><Year>2010</Year><Month>02</Month><Day>23</Day></DateCreated><DateCompleted><Year>2010</Year><Month>03</Month><Day>26</Day></DateCompleted><DateRevised><Year>2010</Year><Month>02</Month><Day>23</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1526-632X</ISSN><JournalIssue CitedMedium="Internet"><Volume>74</Volume><Issue>8</Issue><PubDate><Year>2010</Year><Month>Feb</Month><Day>23</Day></PubDate></JournalIssue><Title>Neurology</Title><ISOAbbreviation>Neurology</ISOAbbreviation></Journal><ArticleTitle>Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA.</ArticleTitle><Pagination><MedlinePgn>674-7</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1212/WNL.0b013e3181d0ccf4</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Cardiac complications, such as myocardial disease and arrhythmias, are frequent and may be severe in patients with mitochondrial disease. We sought to determine the prevalence and the prognostic value of cardiac abnormalities in a series of patients carrying the m.8344 A>G mutation.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We retrospectively collected data concerning a cohort of patients carrying the m.8344A>G mutation. Patients systematically underwent neurologic examination, muscular biopsy, measurement of forced vital capacity, and cardiac evaluation including electrocardiogram, echocardiography, and 24-hour ambulatory electrocardiogram at diagnosis. Neurologic and cardiac evaluations were repeated during follow-up at least every 2 years.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Eighteen patients (mean age 39.3 +/- 17.3 years, 10 women) from 8 families were investigated. Mean follow-up duration was 5.0 +/- 2.7 years. Cardiac abnormalities were identified at diagnosis in 8 patients (44.4%, age 39.1 +/- 17.7 years), including dilated cardiomyopathy in 4, Wolff-Parkinson-White syndrome in 3, incomplete left bundle branch block in 1, and ventricular premature beats in 1. Two additional patients developed left ventricular dysfunction during follow-up and 2 patients died due to heart failure. Subgroup analyses identified early age at disease onset as the only factor significantly associated with myocardial dysfunction.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">We identified a high prevalence of ventricular dysfunction and Wolff-Parkinson-White syndrome. Myocardial involvement was associated with an increased risk of cardiac death due to heart failure, suggesting that cardiac investigations should be systematically considered in patients carrying the m.8344A>G mutation.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Wahbi</LastName><ForeName>K</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Myology Institute, Pitié-Salpêtrière Hospital 47-83, boulevard de l'Hôpital, 75651 Paris Cedex 13, France. karim.wahbi@psl.aphp.fr</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Larue</LastName><ForeName>S</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Jardel</LastName><ForeName>C</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Meune</LastName><ForeName>C</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Stojkovic</LastName><ForeName>T</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Ziegler</LastName><ForeName>F</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Lombès</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Eymard</LastName><ForeName>B</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Duboc</LastName><ForeName>D</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Laforêt</LastName><ForeName>P</ForeName><Initials>P</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Neurology</MedlineTA><NlmUniqueID>0401060</NlmUniqueID><ISSNLinking>0028-3878</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D004272">DNA, Mitochondrial</NameOfSubstance></Chemical></ChemicalList><CitationSubset>AIM</CitationSubset><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001145" MajorTopicYN="N">Arrhythmias, Cardiac</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D004272" MajorTopicYN="N">DNA, Mitochondrial</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D004452" MajorTopicYN="N">Echocardiography</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004562" MajorTopicYN="N">Electrocardiography</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006333" MajorTopicYN="N">Heart Failure</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017243" MajorTopicYN="N">MERRF Syndrome</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009460" MajorTopicYN="N">Neurologic Examination</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012189" MajorTopicYN="N">Retrospective Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018487" MajorTopicYN="N">Ventricular Dysfunction, Left</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>2</Month><Day>24</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>2</Month><Day>24</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate 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