Guideri F, Acampa M, Hayek Y, Zappella M
Department of Internal Medicine and Immunological Sciences, Section of Clinical Immunology, University of Siena, Viale Bracci, Siena 53100, Italy.
Pediatr Cardiol. 2005 Sep-Oct;26(5):574-7. doi: 10.1007/s00246-005-0784-z.
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.
雷特综合征患者的猝死发生率高于普通人群中的个体。先前的研究表明心脏自主神经功能障碍和长QT间期是致病因素。由于肉碱在细胞代谢中起关键作用，并且可能对心脏和神经功能有有益影响，我们研究了长期使用乙酰左旋肉碱治疗对10名雷特综合征女孩心率变异性和心电图异常的影响，并将结果与12名对照患者（未接受治疗的雷特综合征女孩）进行了比较。受试者的年龄范围为2至21岁。研究设计要求评估心率变异性、校正QT间期和QTc离散度。在10名接受乙酰左旋肉碱治疗的雷特综合征女孩中，观察到心率变异性显著增加。为了解释这些结果，我们假设乙酰左旋肉碱对心脏自主神经系统具有神经营养作用。这种作用可能会降低该综合征患者猝死的风险。
