Assessment of cardiac function in absence of congenital and acquired heart disease in patients with Down syndrome

Background:Extra genetic material in patients with Down syndrome(DS)may affect the function of any organ system.We evaluated cardiac functions using conventional tissue Doppler and two-dimensional speckle tracking echocardiography in patients with DS in the absence of congenital and acquired heart disease in patients.Methods:A total of 115 patients with DS between 6 and 13 years of age with clinically and anatomically normal heart and 55 healthy children were included in this cross-sectional study.DS was diagnosed by a karyotype test.Patients with mosaic type were not included in this study.Systolic and diastolic functions were evaluated by echocardiography.Results:Pulsed waved Doppler transmitral early/late inflow velocity(E/A),tissue Doppler mitral annular early/late diastolic peak velocity(Ea/Aa),transtricuspid E/A and tricuspid valve annulus Ea/Aa,pulmonary venous Doppler systolic/diastolic(S/D)wave ratio were lower in patients with Down syndrome than in the control group(P=0.04,P=0.001,P<0.05,P<0.001,P<0.001,respectively).Mitral and tricuspid annular Ea were lower in patients with DS(P<0.001).The right and left ventricular myocardial performance indexes were higher in patients with DS than in the controls(P<0.01).They had significantly higher left ventricular mass,ejection fraction,the mitral annular plane systolic excursion values.However,the Down syndrome group compared with the controls had a lower strain values examined by two-dimensional longitudinal speckle-tracking strain echocardiography.Conclusion:These findings suggest conventional tissue Doppler and two-dimensional longitudinal speckletracking strain echocardiography were useful methods of investigating ventricular function and identifying a higher incidence of biventricular dysfunction in patients with Down syndrome compared with the healthy controls.