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13三体和18三体中的心脏畸形

[Heart malformations in trisomy 13 and trisomy 18].

作者信息

Lizárraga M A, Mintegui S, Sánchez Echániz J, Galdeano J M, Pastor E, Cabrera A

机构信息

Servicio de Cardiología Pediátrica, Hospital Infantil de Cruces, Baracaldo, Vizcaya.

出版信息

Rev Esp Cardiol. 1991 Nov;44(9):605-10.

PMID:1775705
Abstract

Congenital heart diseases were studied in children diagnosed of trisomy 13 and trisomy 18 in our hospital between January 1973 and July 1990. Twenty patients with trisomy 18 were diagnosed (18 females and two males). All had cardiac malformations. The findings were: ventricular septal defect in 16 cases (80%), valvular anomalies in 12 (63%), patent ductus arteriosus in nine (47%) and atrial septal defect or patent foramen ovale in 7 cases (36%). We found some complex congenital cardiac diseases: one atrioventricular canal, one tetralogy of Fallot, one hypoplastic left ventricle with mitral atresia and double outlet right ventricle, one case of univentricular heart with aortic outlet from a rudimentary cavity, a right ventricular atresia with pulmonary and tricuspid valves atresia. Nine cases of trisomy 13 were diagnosed (seven females and two males). We found: ventricular septal defect in 7 cases (77%), valvular disease in five (100% of the necropsy studies), secundum atrial septal defect in 4 patients (80%) and patent ductus arteriosus in two. Two cases presented hypoplastic left ventricle with aortic arch hypoplasia, one of them had subaortic stenosis and left superior vena cava being connected to the right atrium via coronary sinus; one case showed fibroelastosis. Our results have been similar to the previously reported and confirm the invariably presence of cardiac malformations in these syndromes. These malformations are an important sign of suspicion in fetal ultrasonography.

摘要

1973年1月至1990年7月期间,我们对我院诊断为13三体和18三体的儿童先天性心脏病进行了研究。共诊断出20例18三体患儿(18例女性,2例男性)。所有患儿均有心脏畸形。具体表现为:室间隔缺损16例(80%),瓣膜异常12例(63%),动脉导管未闭9例(47%),房间隔缺损或卵圆孔未闭7例(36%)。我们还发现了一些复杂的先天性心脏病:1例房室通道畸形,1例法洛四联症,1例左心室发育不全合并二尖瓣闭锁及右心室双出口,1例单心室心脏伴原始腔室的主动脉出口,1例右心室闭锁合并肺动脉和三尖瓣闭锁。共诊断出9例13三体患儿(7例女性,2例男性)。我们发现:室间隔缺损7例(77%),瓣膜疾病5例(尸检研究中占100%),继发孔房间隔缺损4例(80%),动脉导管未闭2例。2例表现为左心室发育不全合并主动脉弓发育不全;其中1例有主动脉瓣下狭窄,左上腔静脉经冠状窦与右心房相连;1例显示纤维弹性组织增生症。我们的结果与先前报道的相似,证实了这些综合征中总是存在心脏畸形。这些畸形是胎儿超声检查中重要的可疑迹象。

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