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Journal of Pediatric Neurology 2004; 02(03): 145-148
DOI: 10.1055/s-0035-1557209
Original Article
Georg Thieme Verlag KG Stuttgart – New York

Echocardiographic evaluation in Rett children with cardiac dysautonomia

Francesca Guideri
1   Departments of Internal Medicine and Immunological Sciences, Section of Clinical Immunology, University of Siena, Siena, Italy
,
Maurizio Acampa
2   Departments of Internal Medicine and Immunological Sciences, Section of Internal Medicine, University of Siena, Siena, Italy
,
Maria Rosaria Matera
3   Departments of Pediatrics, University of Siena, Siena, Italy
,
Michele Zappella
4   Departments of Child Neurology and Psychiatry, University of Siena, Siena, Italy
,
Yusuf Hayek
4   Departments of Child Neurology and Psychiatry, University of Siena, Siena, Italy
› Author Affiliations
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Further Information

Publication History

03 March 2004

04 May 2004

Publication Date:
29 July 2015 (online)

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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