Pediatric department, Faculty of Medicine, Benha University, Benha, Egypt.
Pediatric department, Faculty of Medicine, Cairo University, Cairo, Egypt.
Medicine (Baltimore). 2023 Feb 10;102(6):e32886. doi: 10.1097/MD.0000000000032886.
Even though congenital heart disease is a common finding in down syndrome (DS) patients, some of them have anatomically normal hearts. However, the term "normal" might not be suitable, as these patients usually suffer from functional cardiac dysfunction. Several research highlighted that despite the absence of anatomical heart defects, subtle cardiac function derangements are present in DS patients. We aim to assess cardiac functions by Two-dimensional echocardiography and tissue Doppler imaging (TDI) in pediatric DS patients who have anatomically normal hearts. One hundred seventy-two patients with karyotyping confirmed DS with anatomically normal hearts and 165 healthy normal control children were enrolled in the current study. Their cardiac functions were assessed using both 2-dimensional echocardiography and TDI. Both patients and controls had structurally and anatomically normal hearts. In DS patients, the right side of the heart showed a significant reduction in both systolic and diastolic functions. Systolic dysfunction was evident by significantly decreased levels of Tricuspid annular plane systolic excursion and systolic wave by TDI. Diastolic dysfunction of the right ventricle was evident by prolonged deceleration time by conventional echocardiography and a significant decrease in annular tissue doppler velocity during early diastole/late diastole ratio by TDI. The E/De ratio was significantly increased. Even with anatomically normal hearts, DS patients should undergo cardiac function assessment by echocardiography & TDI. TDI is superior to conventional echocardiography in detecting subtle cardiac dysfunction especially left ventricular diastolic dysfunction in DS patients. TDI showed a significant decrease in the early/atrial ratio of mitral valve annulus and prolongation of left ventricle isometric relaxation time in DS children. Also, the left ventricle E/De ratio was prolonged denoting elevated filling pressures and diastolic dysfunction. This indicates that the TDI has higher sensitivity to detect diastolic dysfunction than conventional Echocardiography. Biventricular TDI-derived myocardial performance index was found to be significantly increased in DS children.
尽管先天性心脏病是唐氏综合征（DS）患者的常见发现，但其中一些患者的心脏解剖结构正常。然而，“正常”这个术语可能并不合适，因为这些患者通常患有功能性心脏功能障碍。一些研究强调，尽管没有解剖学上的心脏缺陷，但 DS 患者存在细微的心脏功能障碍。我们旨在通过二维超声心动图和组织多普勒成像（TDI）评估具有正常心脏解剖结构的儿科 DS 患者的心脏功能。本研究纳入了 172 例经核型分析证实的 DS 患者，这些患者的心脏解剖结构正常，165 例健康正常对照儿童。使用二维超声心动图和 TDI 评估他们的心脏功能。患者和对照组的心脏结构和解剖结构均正常。在 DS 患者中，右心的收缩和舒张功能均明显降低。TDI 显示三尖瓣环平面收缩期位移和收缩波的水平显著降低，表明收缩功能障碍。右心室舒张功能障碍表现为常规超声心动图的减速时间延长和 TDI 早期/晚期舒张期环组织多普勒速度比显著降低。E/De 比值显著升高。即使心脏解剖结构正常，DS 患者也应通过超声心动图和 TDI 进行心脏功能评估。TDI 比常规超声心动图更能检测细微的心脏功能障碍，尤其是 DS 患者的左心室舒张功能障碍。TDI 显示 DS 儿童二尖瓣环早期/心房比值显著降低，左心室等容舒张时间延长。此外，左心室 E/De 比值延长，提示充盈压升高和舒张功能障碍。这表明 TDI 比常规超声心动图更能检测舒张功能障碍。DS 儿童的双心室 TDI 衍生心肌性能指数显著升高。
