Kieren Grant Hollingsworth1,
Matthew G.D. Bates2, Jane H. Newman3, Djordje G.
Jakovljevic3, Andrew M. Blamire1, Guy A. MacGowan4,
Bernard D. Keavney4, Patrick F. Chinnery4, Douglass M.
Turnbull2, Robert W. Taylor2, Michael I. Trenell3,
Grainne S. Gorman3
1Institute
of Cellular Medicine, Newcastle University, Newcastle upon Tyne, Tyne and
Wear, United Kingdom; 2Mitochondrial Research Group, Newcastle
University, Newcastle upon Tyne, Tyne and Wear, United Kingdom; 3MOVElab,
Newcastle University, Newcastle upon Tyne, Tyne and Wear, United Kingdom; 4Institute
of Genetic Medicine, Newcastle University, Newcastle upon Tyne, Tyne and
Wear, United Kingdom
Cardiomyopathy is a cause of morbidity and mortality in patients with the m.3243A>G mutation. Early detection would enable the design of timely intervention. We hypothesised that abnormalities in left ventricular mechanics, bioenergetics and morphology would be detectable by MR research methods in m.3243A>G mutation carriers without known cardiac involvement. Comparing 22 such patients and their matched controls using cine imaging, cardiac tagging and phosphorus spectroscopy, we found significantly increased LV mass index (which correlated with urinary mutation load), increased peak cardiac torsion, reduced longitudinal shortening and a significant reduction in the ratio of cardiac PCr/ATP.