Van Praagh S, Truman T, Firpo A, Bano-Rodrigo A, Fried R, McManus B, Engle M A, Van Praagh R
Department of Cardiology, Children's Hospital, Boston, Massachusetts 02115.
J Am Coll Cardiol. 1989 Jun;13(7):1586-97. doi: 10.1016/0735-1097(89)90353-7.
The cardiac malformations in 41 karyotyped and autopsy cases of trisomy-18 are presented in detail. The salient findings were a ventricular septal defect in all cases; tricuspid valve anomalies in 33 cases (80%); pulmonary valve anomalies in 30 (70%); aortic valve malformations in 28 (68%); mitral valve anomalies in 27 (66%); polyvalvular disease (that is, malformations of more than one valve) in 38 (93%); a subpulmonary infundibulum (conus) in 40 (98%); a bilateral conus with a short subaortic infundibulum in 1 case with double outlet right ventricle (this being the only documented case of bilateral infundibulum in trisomy-18); double outlet right ventricle in 4 cases (10%), three having a subpulmonary infundibulum only and all 4 having mitral atresia; tetralogy of Fallot in 6 cases (15%), 2 having pulmonary atresia; and a striking absence of transposition of the great arteries and inversion at any level (visceral or cardiac), findings that appear to be characteristic of all trisomies. These data suggest that excessive chromosomal material (as in trisomies) may result in situs solitus at all levels. The malformations of the atrioventricular and semilunar valves were characterized by redundant or thick myxomatous leaflets, long chordae tendineae and hypoplastic or absent papillary muscles. The ventricular septal defect was associated with anterosuperior conal septal malalignment in 25 cases (61%). On the basis of the characteristic valvular lesions, the type of ventricular septal defect and the absence of transposition or inversions, two-dimensional echocardiographic diagnosis of trisomy-18 in the fetus may become possible.
详细介绍了41例18三体综合征核型分析及尸检病例的心脏畸形情况。主要发现为：所有病例均有室间隔缺损；33例（80%）有三尖瓣异常；30例（70%）有肺动脉瓣异常；28例（68%）有主动脉瓣畸形；27例（66%）有二尖瓣异常；38例（93%）有多瓣膜病变（即一个以上瓣膜畸形）；40例（98%）有肺动脉下漏斗部（圆锥）；1例右心室双出口伴有双侧圆锥及短主动脉下漏斗部（这是18三体综合征中唯一有双侧漏斗部记录的病例）；4例（10%）为右心室双出口，其中3例仅有肺动脉下漏斗部，4例均有二尖瓣闭锁；6例（15%）为法洛四联症，2例有肺动脉闭锁；明显无大动脉转位及任何水平（内脏或心脏）的反位，这些发现似乎是所有三体综合征的特征。这些数据表明，过多的染色体物质（如三体综合征中）可能导致各水平的正常位。房室瓣和半月瓣的畸形特征为黏液瘤样瓣叶冗余或增厚、腱索过长以及乳头肌发育不全或缺失。25例（61%）室间隔缺损与前上圆锥间隔排列不齐有关。基于特征性的瓣膜病变、室间隔缺损类型以及无转位或反位情况，胎儿18三体综合征的二维超声心动图诊断可能成为现实。
