Congenital arteriovenous malformations between brachiocephalic arteries and systemic veins.

Three patients under two years of age are described with unusual fistulas involving the brachiocephalic arteries and the innominate vein or the superior vena cava. Two patients were asymptomatic, and one newborn was cyanotic and in congestive failure. This unusual presentation has only rarely been reported in thoracic arteriovenous malformations. Two of the three patients underwent successful surgical repair. Two-dimensional echocardiography aids in the evaluation of these patients, but cardiac catheterization and angiography are indispensable diagnostic techniques for documenting the extent and location of these lesions and thus guiding proper therapy.

Inadvertent ligation of the left pulmonary artery instead of patent ductus arteriosus. Noninvasive diagnosis by pulmonary perfusion imaging.

Pulmonary perfusion scintigraphy was used to noninvasively evaluate a neonate four days after attempted surgical closure of a large patent ductus arteriosus (PDA). No perfusion to the left lung was seen, suggesting inadvertent ligation of the left pulmonary artery (PA). This was confirmed by cardiac catheterization and reoperation. Radionuclide pulmonary perfusion imaging is an ideal noninvasive technique for evaluating pulmonary perfusion in neonates after complicated thoracic surgery.

Trisomy 6q22 leads to 6qter due to maternal 6;21 translocation. Case report review of the literature.

Partial trisomy for the long arm of chromosome 6, involving 6q22 leads to 6qter, was observed in a 2-month-old male infant. The mother was 6q;21p translocation carrier. A review of the previously published cases with trisomies of different 6q segments suggests that the critical segment responsible for the clinically recognizable phenotype of 6q trisomy seems to be limited to bands 6q26 and/or 6q27.