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BMJ Publishing Group, Heart, Suppl 1(98), p. A40.2-A41, 2012

DOI: 10.1136/heartjnl-2012-301877b.71

Oxford University Press (OUP), European Heart Journal - Cardiovascular Imaging, 7(14), p. 650-658

DOI: 10.1093/ehjci/jes226

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Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers†

Journal article published in 2012 by Matthew G. D. Bates, Kieren G. Hollingsworth, Jane H. Newman, Djordje G. Jakovljevic, Andrew M. Blamire ORCID, Bernard D. Keavney, Guy A. MacGowan, Patrick F. Chinnery, Douglass M. Turnbull, Robert W. Taylor, Michael I. Trenell, Grainne S. Gorman
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

AIMS: Hypertrophic remodelling and systolic dysfunction are common in patients with mitochondrial disease and independent predictors of morbidity and early mortality. Screening strategies for cardiac disease are unclear. We investigated whether myocardial abnormalities could be identified in mitochondrial DNA mutation carriers without clinical cardiac involvement. METHODS AND RESULTS: Cardiac magnetic resonance imaging was performed in 22 adult patients with mitochondrial disease due to the m.3243A>G mutation, but no known cardiac involvement, and 22 age- and gender-matched control subjects: (i) Phosphorus-31- magnetic resonance spectroscopy, (ii) cine imaging (iii), cardiac tagging and (iv) late gadolinium enhancement (LGE) imaging. Disease burden was determined using the Newcastle Mitochondrial Disease Adult Scale (NMDAS) and urinary mutation load. Compared with control subjects, patients had an increased left ventricular mass index (LVMI), LV mass to end-diastolic volume (M/V) ratio, wall thicknesses (all P G mutation without clinical cardiac disease. Patients with higher mutation loads and disease burden may be at increased risk of cardiac involvement.