Kieren G. Hollingsworth1, Tracey A. Willis2, Ben J. Dixon1, Hanns Lochmuller2, Kate Bushby2, John Bourke2, Guy A. MacGowan2, Andrew M. Blamire1, Volker Straub2
1Newcastle Magnetic Resonance Centre, Newcastle University, Newcastle upon Tyne, Tyne and Wear, United Kingdom; 2Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, Tyne and Wear, United Kingdom
The assessment of cardiac involvement is important in Limb Girdle Muscular Dystrophy 2I, and the mechanisms of cardiac disease in this disease remain to be understood. For the first time, this study combines the techniques of MR cine imaging, MR tagged imaging and MR spectroscopy to assess a large group (n=11) of British patients. As a group, peak cardiac torsion and ejection fraction are significantly reduced in LGMD2I, and the deficit in these two measures is strongly correlated. The relationship between circumferential strain and cardiac torsion suggests subepicardial dysfunction, distinct from previous results on Duchenne muscular dystrophy.