Madan N, Levine M, Pourmoghadam K, Sokoloski M
Heart Center for Children, St. Christopher's Hospital for Children and MCP Hahnemann University, Philadelphia, PA, USA.
Pediatr Cardiol. 2004 Jan-Feb;25(1):53-5. doi: 10.1007/s00246-003-0341-6. Epub 2003 Oct 13.
Rett syndrome is a progressive disorder seen primarily in young females. It is characterized by autonomic dysfunction affecting many organ systems. Although sudden death is common in these patients, little is known about the cardiovascular manifestations of this dysautonomia. Earlier reports focused on the role of sympathetic overactivity manifest as reduced heart rate variability and prolonged QT intervals indicating a propensity for lethal ventricular arrhythmias. Bradyarrhthmias and sinus node dysfunction, however, have not previously been reported. We describe a 2-year-old with Rett syndrome and severe sinus bradycardia requiring a pacemaker implant. This case represents the first description of a new cardiovascular manifestation of Rett syndrome and may provide an explanation for sudden and unexpected death in some of these patients.
雷特综合征是一种主要见于年轻女性的进行性疾病。其特征为影响多个器官系统的自主神经功能障碍。虽然这些患者猝死很常见,但对于这种自主神经功能障碍的心血管表现却知之甚少。早期报告关注的是交感神经过度活跃的作用,表现为心率变异性降低和QT间期延长,提示有发生致命性室性心律失常的倾向。然而,此前尚未有关于缓慢性心律失常和窦房结功能障碍的报道。我们描述了一名患有雷特综合征且有严重窦性心动过缓需要植入起搏器的2岁女童。该病例首次描述了雷特综合征一种新的心血管表现,可能为其中一些患者的突然意外死亡提供解释。