Affiliations: Departments of Internal Medicine and Immunological
Sciences, Section of Clinical Immunology, University of Siena, Siena,
Italy | Departments of Internal Medicine and Immunological
Sciences, Section of Internal Medicine, University of Siena, Siena, Italy | Departments of Pediatrics, University of Siena, Siena,
Italy | Departments of Child Neurology and Psychiatry,
University of Siena, Siena, Italy
Note: [] Correspondence: Francesca Guideri, M.D., Dipartimento di
Medicina Clinicae Scienze Immunologiche, Sezione di Immunologia Clinica,
Policlinico 'Le Scotte', viale Bracci, 53100 Siena, Italy. Tel:
+39(0)577585741, fax:+39(0)57744114. E-mail: [email protected]
Abstract: 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).
Keywords: Rett syndrome, echocardiography, cardiac dysautonomia
