ORIGINAL ARTICLE - Echocardiographic evaluation in Rett children with cardiac dysautonomia

The incidence of sudden death in Rett syndrome is greater than that of the general population. Previous studies suggested cardiac dysautonomia and long QT interval as a prime suspect cause but there are no echocardiographic studies in Rett girls. The aim of this study was the analysis of the cardiac dysautonomia and echocardiographic abnormalities in females affected with Rett syndrome as a possible explanation of the higher risk for sudden death, observed in these subjects. Standard transthoracic echocardiography, heart rate variability and corrected QT interval were studied in 32 Rett girls (4±4.1 years) and in 30 age-matched healthy females (6.8±2.1 years). All Rett girls had cardiac dysautonomia, with loss of physiological heart rate variability but normal cardiac structures, dimensions and function. These results suggest that sudden death in Rett girls may be linked to an electrical instability and not to cardiac structures or valve alterations. (J Pediatr Neurol 2004; 2(3): 145-148)