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Journal of Child Neurology
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*Rett Syndrome
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Progressive Cardiac Dysautonomia Observed in Patients Affected by Classic Rett Syndrome and Not in the Preserved Speech Variant

Francesca Guideri, MD

Department of Internal Medicine

Maurizio Acampa, MD

Department of Internal Medicine

Tullio DiPerri, MD

Department of Internal Medicine

Michele Zappella, MD

Department of Child Neurology and Psychiatry University of Siena Siena, Italy

Yusuf Hayek, MD

Department of Child Neurology and Psychiatry University of Siena Siena, Italy

Incidence of sudden death in Rett syndrome is greater than that of the general population, and cardiac electrical instability is a prime suspect cause. The objective of the present study was the evaluation of heart rate variability, a marker of autonomic activity, in females affected by classic Rett syndrome and atypical variants for a possible explanation of the higher risk for sudden death observed in these subjects. Our study showed that girls with classic Rett syndrome had significantly lower heart rate variability and longer corrected QT intervals than in atypical Rett syndrome and age-matched healthy girls. Reduction of heart rate variability progresses with age and with the clinical stage of the syndrome. These results suggest the possible role of the progressive cardiac dysfunction in the sudden death associated with Rett syndrome. (J Child Neurol 2001;16:370-373).

Journal of Child Neurology, Vol. 16, No. 5, 370-373 (2001)
DOI: 10.1177/088307380101600512
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