P443Diastolic dysfunction in patients with muscular dystrophies

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Purpose: Patients with muscular dystrophies such as: Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD) are characterized by musculoskeletal abnormalities, often accompanied by cardiac defects, atrioventricular conduction defects and systolic dysfunction. Sudden cardiac death is the most common mechanism of death in this group. There is lack of data on diastolic function in these group. The aim of the study was to analyse the left ventricular diastolic function in muscular dystrophies.Methods: In the present study we included 15 patients with dystrophinopathies (5 BMD and 10 with DMD), 24 pts with genetically confirmed EDMD (16 pts with an X-linked inheritance [defect in the STA gene, emerinopathy] and 8 pts with an autosomal dominant form [defect in LMNA, laminopathy]), and 2 pts with LGMD as well as 20 healthy volunteers matched interms of age, sex, and body mass. All pts were subjected to echocardiography with the assessment of diastolic function with the use of mitral inflow, and pulmonary venous flow parameters, tissue doppler annular early (Ep) and late(Ap) diastolic velocities, color m-mode flow propagation velocity (Vp).Results: The mean left ventricular ejection fraction (LVEF) was 46,8 +/-10,3% and 67,2 +/- 4,8 for EDMD pts and for controls respectively(p<0,0001). Significant systolic dysfunction (EF<45%) was documented in 44%(18/41) of patients. In 61% (25/41) of the studied group, significant diastolic dysfunction was found (abnormal relaxation in 5 patients, a pseudonormal profile in 10, and a restrictive pattern in 10, 8/10 in DMD, 3/5 in BMD, 12/24in EDMD, and 2/2 in LGMD). Significantly higher E/Ep (14,2 +/- 6,7 vs. 5,7 +/- 1,0;p=0,0001) and lower Vprop (48,2 +/- 20,4 vs. 78,4 +/- 16,9; p=0,0001) in comparison to the control group were documented. The left atrial dimension (LAd) and its volume (LAV) differed significantly between neuromuscular disordered pts and the controls (LAd: 43,1 +/- 5,7 vs. 32,5 +/- 2,0; p=0,0001; LAV 46,5 +/- 8,1vs. 21,5 +/- 3,9; p=0,0001) .Conclusions: Significant systolic dysfunction was documented in 44% of dystrophic patients, but in 61% of the this group significant diastolic dysfunction was found. Significant diastolic dysfunction was found more often in DMD, BMD, and LGMD that in EDMD. Diastolic dysfunction is common in patients with musculardystrophies and may be a first sign of significant cardiac involvement and should be routinely diagnosed in cardiac screening in this group.

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