Normand J, Sassolas F, Bozio A, Jocteur-Monrozier D, André M
Arch Mal Coeur Vaiss. 1981 Dec;74(12):1427-36.
Approximately 50% of patients with Trisomy 21 have congenital heart lesions and they account for 2.7% of the admissions to the Pediatric Cardiac Unit of the Cardiac Hospital of Lyons. In a series of 91 cases observed over a 10 year period (1070-1980) undergoing hemodynamic and angiographic investigation, 9 out of 10 cases - as previously reported - had the following abnormalities: endocardial cushion defect, 42.7% (39% of which were complete atrioventricular canals), ventricular septal defect, 33%, and Fallot's tetralogy, 12%. These lesions were characterised by the high incidence and precocity of pulmonary hypertension (69 out of 72 cases with a left-to-right shunt . A comparison of the hemodynamic data of children with Trisomy 21 with ventricular septal defects, and children without Trisomy 21 of the same age with ventricular septal defect showed the pulmonary arterial resistances to be significantly higher in the group with Trisomy 21, suggesting that Trisomy 21 plays a role in the pathogenesis of severe early pulmonary hypertension. The operative risk is much higher in these patients, especially with openheart surgery (4 operative deaths out of 12 cases of closure of VSD). The surgical indications are difficult to define because of the context of malformation and mental retardation, the high incidence of pulmonary hypertension and the high opertive risk requiring a large and detailed dialogue with the family.
约50%的21三体综合征患者患有先天性心脏病变，他们占里昂心脏病医院儿科心脏科收治病例的2.7%。在10年期间（1970 - 1980年）观察的91例接受血流动力学和血管造影检查的病例中，如先前报道，10例中有9例有以下异常：心内膜垫缺损，42.7%（其中39%为完全性房室通道），室间隔缺损，33%，法洛四联症，12%。这些病变的特点是肺动脉高压发生率高且出现早（72例左向右分流病例中有69例）。对患有室间隔缺损的21三体综合征患儿与同龄无21三体综合征的室间隔缺损患儿的血流动力学数据进行比较，结果显示21三体综合征组的肺动脉阻力明显更高，这表明21三体综合征在严重早期肺动脉高压的发病机制中起作用。这些患者的手术风险要高得多，尤其是心脏直视手术（12例室间隔缺损修补病例中有4例手术死亡）。由于存在畸形和智力发育迟缓的情况、肺动脉高压的高发生率以及高手术风险，需要与家属进行深入细致的沟通，因此手术指征很难确定。
