Cardiac malformations in trisomy-18: A study of 41 postmortem cases

Autor: Van Praagh, Stella, Truman, Timothy, Firpo, Adolfo, Bang-Rodrigo, Antonio, Fried, Ruthellen, McManus, Bruce, Engle, Mary Allen, Van Praagh, Richard
Zdroj: Journal of the American College of Cardiology; June 1989, Vol. 13 Issue: 7 p1586-1597, 12p
Abstrakt: 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.
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