P-9 Construction of a database for a nation-wide Italian collaborative network of mitochondrial diseases

Aim of this study was to evaluate in patients with progressive external ophthalmoplegia (PEO) the left ventricular function by standard echocardiography and tissue Doppler imaging (TDI) analysis. Twenty patients with PEO (55.4 ± 17.5 years) and 20 ageand sex-matched healthy subjects underwent standard echocardiography with TDI analysis to assess left ventricular function. TDI was performed by placing the sample volume in the center of the basal lateral segment and the basal interventricular septum in the apical 4-chamber view. Myocardial systolic wave (S m ) and early (E m ) and atrial (A m ) diastolic waves were measured. On standard echocardiography examination, no significant changes in left ventricular systolic function parameters were observed. Instead, the indices of left ventricular diastolic function were significantly lower in PEO patients respect to controls (peak E, 75.4 ± 11.2 vs. 58.8 ± 12.5 cm/sec, p < 0.01; E/A ratio, 1.0 ± 0.3 vs. 0.8 ± 0.2, p < 0.01). Regarding TDI measures, the PEO patients exhibited as compared to control subjects a lower S m peak (septum: 7.6 ± 1.1 vs. 9.9 ± 0.8 cm/sec; lateral wall: 9.7 ± 1.7 vs. 12.8 ± 1.2 cm/sec, p < 0.001), a lower E m peak (septum: 9.3 ± 1.6 vs. 12.8 ± 1.7 cm/sec; lateral wall: 10.2 ± 2.4 vs. 14.1 ± 1.9 cm/sec, p < 0.001), and a reduced E m /A m ratio (septum: 1.0 ± 0.4 vs. 0.7 ± 0.2; lateral wall: 1.2 ± 0.5 vs. 0.7 ± 0.2, p < 0.001, respectively). Our data indicate that although cardiac involvement in patients with PEO is generally considered to be limited to the cardiac conduction system, left ventricular dysfunction may be present and should receive more attention in the management of patients with PEO. Pulsed TDI offers an additional means to conventional echocardiography for assessing left ventricular diastolic function and to identify preclinical systolic myocardial involvement in PEO patients. P-9 Construction of a database for a nation-wide Italian collaborative network of mitochondrial diseases M. Mancuso, C. Angelini, E. Bertini, E. Caldarazzo Ienco, V. Carelli, G.P. Comi, C. Minetti, T. Mongini, D. Orsucci, S. Servidei, P. Tonin, A. Toscano, G. Uziel, P. Santantonio, G. Siciliano Department of Neuroscience, University of Pisa, Italy; 1 Department of Neurosciences, University of Padua, Italy; 2 “Bambino Gesù Children’s Hospital, Rome, Italy; 3 Department of Neurological Sciences, University of Bologna, Italy; 4 Department of Neurological Sciences, University of Milan, Italy; 5 Department of Paediatrics, University of Genoa, Italy; 6 Centre for Neuromuscular Diseases, Department of Neuroscience, University of Turin, Italy; 7 Department of Neurosciences, Catholic University, Rome, Italy; 8 Neurological Institute, University of Verona, Italy; 9 Department of Neurosciences, Psychiatry and Anesthesiology, University of Messina, Italy; 10 Istituto Nazionale Neurologico “C. Besta”, Milan, Italy; 11 MITOCON Onlus