Cardiac malformations in the velocardiofacial syndrome

Abstract

A similar pattern of congenital anomalies found in 27 children, 9 male and 18 female, aged 2 weeks to 17 years, allows the conclusion that they represent a newly recognized malformation syndrome. All patients had velopharyngeal insufficiency, a submucous or overt cleft of the secondary palate and learning disabilities. A similar facies, characterized by a long vertical face, a large fleshy nose with broad nasal bridge, flattened malar region, narrow palpebral fissures and deep overbite with retruded mandible, was usually present. Other noncardiac anomalies also occurred frequently. Twenty-three (85 percent) had congenital cardiovascular malformations whose occurrence as single or combined lesions far exceeded the expected incidence in children with congenital heart disease. A ventricular septal defect was present in 15, tetralogy of Fallot in 5. Prolapse of the right aortic cusp was present in two patients with a ventricular septal defect, and aortic valve disease with insufficiency in one patient with tetralogy. The aortic arch was right-sided in 12 patients, in conjunction with a ventricular septal defect in 5, in association with tetralogy of Fallot in 4 and in the absence of associated cardiac disease in 3. The right aortic arch descended on the right in 10 patients; in 2 with a ventricular septal defect it crossed retroesophageally to descend on the left, and in one of these it presented as the “third aortic arch syndrome.” Aberrant origin of the left subclavian artery was present in five patients with a right aortic arch. A patent ductus arteriosus had caused congestive heart failure in infancy in one patient with a small ventricular septal defect; three others with a ventricular defect had additional clinically minor anomalies. Two children were brother and sister. Their mother and the mothers of two other children showed evidence of the same syndrome, suggesting the possibility of autosomal dominant or X chromosome-linked dominant transmission.