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Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load

Although neuromuscular clinical features often dominate the clinical presentation of mitochondrial disease due to the m.3243A>G mitochondrial DNA (mtDNA) mutation, many patients develop cardiac failure, which is often overlooked until it reaches an advanced stage. We set out to determine whether...

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Autores principales: Hollingsworth, Kieren G., Gorman, Grainne S., Trenell, Michael I., McFarland, Robert, Taylor, Robert W., Turnbull, Douglass M., MacGowan, Guy A., Blamire, Andrew M., Chinnery, Patrick F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pergamon Press 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3387369/
https://www.ncbi.nlm.nih.gov/pubmed/22513320
http://dx.doi.org/10.1016/j.nmd.2012.03.001
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author Hollingsworth, Kieren G.
Gorman, Grainne S.
Trenell, Michael I.
McFarland, Robert
Taylor, Robert W.
Turnbull, Douglass M.
MacGowan, Guy A.
Blamire, Andrew M.
Chinnery, Patrick F.
author_facet Hollingsworth, Kieren G.
Gorman, Grainne S.
Trenell, Michael I.
McFarland, Robert
Taylor, Robert W.
Turnbull, Douglass M.
MacGowan, Guy A.
Blamire, Andrew M.
Chinnery, Patrick F.
author_sort Hollingsworth, Kieren G.
collection PubMed
description Although neuromuscular clinical features often dominate the clinical presentation of mitochondrial disease due to the m.3243A>G mitochondrial DNA (mtDNA) mutation, many patients develop cardiac failure, which is often overlooked until it reaches an advanced stage. We set out to determine whether cardiac complications are sufficiently common to warrant prospective screening in all mutation carriers. Routine clinical echocardiography and 3 Tesla cardiac MRI were performed on ten m.3243A>G mutation carriers and compared to age and gender matched controls, with contemporaneous quadriceps muscle biopsies to measure respiratory chain activity and mtDNA mutation levels. Despite normal echocardiography, all ten m.3243A>G mutation carriers had evidence of abnormal cardiac function on MRI. The degree of cardiac dysfunction correlated with the percentage level of mutant mtDNA in skeletal muscle. Sub-clinical cardiac dysfunction was a universal finding in this study, adding weight to the importance of screening for cardiac complications in patients with m.3243A>G. The early detection of cardiac dysfunction with MRI opens up opportunities to prevent heart failure in these patients through early intervention.
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spelling pubmed-33873692012-07-05 Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load Hollingsworth, Kieren G. Gorman, Grainne S. Trenell, Michael I. McFarland, Robert Taylor, Robert W. Turnbull, Douglass M. MacGowan, Guy A. Blamire, Andrew M. Chinnery, Patrick F. Neuromuscul Disord Article Although neuromuscular clinical features often dominate the clinical presentation of mitochondrial disease due to the m.3243A>G mitochondrial DNA (mtDNA) mutation, many patients develop cardiac failure, which is often overlooked until it reaches an advanced stage. We set out to determine whether cardiac complications are sufficiently common to warrant prospective screening in all mutation carriers. Routine clinical echocardiography and 3 Tesla cardiac MRI were performed on ten m.3243A>G mutation carriers and compared to age and gender matched controls, with contemporaneous quadriceps muscle biopsies to measure respiratory chain activity and mtDNA mutation levels. Despite normal echocardiography, all ten m.3243A>G mutation carriers had evidence of abnormal cardiac function on MRI. The degree of cardiac dysfunction correlated with the percentage level of mutant mtDNA in skeletal muscle. Sub-clinical cardiac dysfunction was a universal finding in this study, adding weight to the importance of screening for cardiac complications in patients with m.3243A>G. The early detection of cardiac dysfunction with MRI opens up opportunities to prevent heart failure in these patients through early intervention. Pergamon Press 2012-07 /pmc/articles/PMC3387369/ /pubmed/22513320 http://dx.doi.org/10.1016/j.nmd.2012.03.001 Text en © 2012 Elsevier B.V. https://creativecommons.org/licenses/by/3.0/ Open Access under CC BY 3.0 (https://creativecommons.org/licenses/by/3.0/) license
spellingShingle Article
Hollingsworth, Kieren G.
Gorman, Grainne S.
Trenell, Michael I.
McFarland, Robert
Taylor, Robert W.
Turnbull, Douglass M.
MacGowan, Guy A.
Blamire, Andrew M.
Chinnery, Patrick F.
Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load
title Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load
title_full Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load
title_fullStr Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load
title_full_unstemmed Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load
title_short Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load
title_sort cardiomyopathy is common in patients with the mitochondrial dna m.3243a>g mutation and correlates with mutation load
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3387369/
https://www.ncbi.nlm.nih.gov/pubmed/22513320
http://dx.doi.org/10.1016/j.nmd.2012.03.001
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