title: Effects of acetyl-L-carnitine on cardiac dysautonomia in Rett syndrome: prevention of sudden death?
abstract: There is a higher incidence of sudden death in patients with Rett syndrome than individuals in the general population. Previous studies have implicated cardiac dysautonomia and a long QT interval as causative factors. Because carnitine plays a critical role in cellular metabolism and may have beneficial effects on cardiac and nerve function, we investigated the effects of long-term treatment with acetyl-L-carnitine on heart rate variability and electrocardiographic abnormalities in 10 girls with Rett syndrome and compared the results with 12 control patients (girls with Rett syndrome who were not treated). The age range of the subjects was 2-21 years. The study design called for the evaluation of heart rate variability, corrected QT interval, and QTc dispersion. In the 10 Rett girls treated with acetyl-L-carnitine, a significant increase in heart rate variability was observed. To explain these results, we hypothesize that acetyl-L-carnitine has a neurotrophic action on the cardiac autonomic nervous system. This effect may reduce the risk of sudden death in patients with this syndrome.
authors.affiliation: Department of Internal Medicine and Immunological Sciences, Section of Clinical Immunology, University of Siena, Viale Bracci, Siena 53100, Italy. guideri@unisi.it
authors.forename: F
authors.initials: F
authors.lastname: Guideri
authors.forename: M
authors.initials: M
authors.lastname: Acampa
authors.forename: Y
authors.initials: Y
authors.lastname: Hayek
authors.forename: M
authors.initials: M
authors.lastname: Zappella
mesh_terms: D000108:Acetylcarnitine / Q000494:pharmacology*; D000293:Adolescent; D000328:Adult; D001342:Autonomic Nervous System Diseases / Q000150:complications / Q000188:drug therapy* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D016757:Death, Sudden, Cardiac / Q000209:etiology / Q000517:prevention & control*; D004562:Electrocardiography; D005260:Female; D005500:Follow-Up Studies; D006339:Heart Rate / Q000187:drug effects; D006801:Humans; D018697:Nootropic Agents / Q000494:pharmacology*; D015518:Rett Syndrome / Q000150:complications / Q000188:drug therapy* / Q000503:physiopathology
chemical_list: D018697:Nootropic Agents; D000108:Acetylcarnitine