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

• Published in: Journal of the American College of Cardiology 1989-06, Vol.13 (7), p.1586-1597
• Main Authors: Van Praagh, Stella, Truman, Timothy, Firpo, Adolfo, Bang-Rodrigo, Antonio, Fried, Ruthellen, McManus, Bruce, Engle, Mary Allen, Van Praagh, Richard
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Cardiology. Vascular system; Chromosome aberrations; Chromosomes, Human, Pair 18; Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava; Female; Heart; Heart Defects, Congenital - genetics; Heart Defects, Congenital - pathology; Heart Septal Defects, Ventricular - genetics; Heart Septal Defects, Ventricular - pathology; Heart Valves - abnormalities; Humans; Infant, Newborn; Male; Medical genetics; Medical sciences; Trisomy
• ISSN: 0735-1097; 1558-3597
• 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.