| 王岩,梁晓璐.1例10、18染色体复合异常小儿先心病超声诊断[J].中国医学影像技术,2020,36(2): |
| 1例10、18染色体复合异常小儿先心病超声诊断 |
| Ultrasonic diagnosis of congenital heart disease in children with 10 18 chromosomal abnormalities |
| 投稿时间：2019-03-12 修订日期：2020-01-03 |
| DOI： |
| 中文关键词: 先天性，心脏病，10号染色体，18号染色体，异常，超声诊断 |
| 英文关键词:congenital,heart disease,children,10 chromosome,18 chromosome,abnormalities,ultrasonography |
| 基金项目:无 |
|
| 摘要点击次数: 1330 |
| 全文下载次数: 375 |
| 中文摘要: |
| 患儿女,3岁3月,体重6.2Kg,重症肺炎住院,基因组检测证实为10q24.31-q26.3重复*3拷贝数；18p11.32-p11.23缺失,患儿生长发育明显落后,头颅细长,前额横径窄,耳位低,双眼裂小,眼睑略下垂,腭裂,脊柱侧凸,乳头距宽,四肢肌力Ⅱ级。双侧膝跟腱反射减弱,心前区隆起,心尖博动异常,心浊音界扩大,心率144次/分,心前区闻及4/6级全收缩期杂音,伴震颤,广泛传导,经皮血氧饱和度75%。超声所见：双室心肌增厚,约7.5mm,回声不均,室间隔膜周部回声中断,约8mm左右,频谱及彩色多普勒超声探及双向分流,流速2.0m/s,双侧冠状动脉增宽,左侧4.6mm,显示长度18.7mm,右侧6.6mm,右侧显示长度约21.7mm,肺动脉瓣血流速度加快,约3m/s,主肺动脉瘤样扩张,宽约32mm,左右肺动脉内径均增宽。超声诊断：先天性心脏病—室间隔缺损(膜周部),双侧冠状动脉扩张,主肺动脉瘤样扩张伴双侧肺动脉增宽,肺动脉瓣轻度狭窄,双室心肌增厚,回声不均。 |
| 英文摘要: |
| Female child weighing 6.2Kg with 3years old, hospitalized for severe pneumonia. Genome detection confirmed that 10q24.31-q26.3repeated*3 copies; 18p11.32-p11.23missing. The child's growth and development are obviously backward. She has a slender skull, narrow lateral diameter of forehead, low ear position, eyes split small, lids slightly drooping, cleft palate, scoliosis, Nipple width, limb muscle strength classification Ⅱ, reduced reflexes of bilateral achilles tendon. Her heart area is uplift, abnormal palpitation at the tip of the heart and heart voiced community expansioned. The heart rate is 144 times per cent. Pericardial 4/6 total systolic noise,which accompany with extensive conduction and tremor. Percutaneous oxygen saturation is 75 %. Ultrasound discriptition: Double ventricular myocardial is about 7.5mm which is thickening and uneven echo. Interventricular diaphragm echo interrupt with 8mm or so. Where we can see Bidirectional Diversion in spectrum and Color Doppler Ultrasound. Bilateral coronary are widening. The width of left is 4.6mm,and the right is 6.6mm.Show Length is 18.7mm and 21.7mm respectively. Pulmonary valve blood flow is accelerating that is 3 metres per second. Malignant dilation of the main pulmonary artery,which is 32mm. Both left and right pulmonary arteries have been widened. Ultrasonic diagnosis: Congenital heart disease- ventricular septal defect(Perimembranous); Bilateral coronary dilation; Malignant dilation of the main pulmonary artery accompanied with widening of bilateral pulmonary arteries; Mild stenosis of pulmonary valve; Double ventricular myocardial thickening and uneven. |
| 查看全文 查看/发表评论 下载PDF阅读器 |
|
|
|
