Low MSAFP levels and Williams syndrome.

Williams syndrome (WS) is associated with a deletion of the elastin gene in over 90% of cases. We report maternal serum alpha feto-protein (MSAFP) levels in 5 women whose fetuses were later diagnosed as having WS. MSAFP levels ranged from 0.5-0.8 multiples of the median (MOM). Although further confirmation is necessary, it appears that MSAFP levels are lower than the median in WS. This apparent association has implications for counselling women following maternal serum screening.

A familial disorder with duodenal atresia and tetralogy of Fallot.

We report on two sibs with tetralogy of Fallot (TOF) and duodenal atresia (DA). The first child, a 6-year-old girl, had a right facial palsy in addition to the TOF and DA. Her brother, age 10 months, was born with bilateral microtia without facial palsy. The children are the product of an apparently non-consanguineous union between clinically normal parents. The pertinent family history includes a paternal aunt with TOF and a cleft lip and palate who died in childhood and another paternal aunt with a supernumerary thumb. This family has anomalies found in several syndromes, but does not meet the diagnostic criteria for any of them. The genetic basis for this condition remains unknown, but the pattern of inheritance is likely either autosomal recessive, or autosomal dominant with variable expression and reduced penetrance. The pathogenesis is unknown, but either a disturbance in neural crest cell migration or familial predisposition to vascular disruption might explain this pattern of malformations.

Spinal cord infarct after arterial switch associated with an umbilical artery catheter.

Paraplegia after an open heart operation in a neonate is a rare complication. We report a case of a infant in whom paraplegia developed after a successful arterial switch operation for transposition of the great arteries. The infant was monitored and resuscitated in the preoperative period with umbilical arterial and venous catheter tips located in the midthoracic region. He likely suffered a clinically silent thromboembolic event predisposing him to a localized hemorrhagic infarction during the repair.

A comparison of iohexol and diatrizoate-meglumine in children undergoing cardiac catheterization.

Iohexol (Omnipaque) and meglumine and sodium diatrizoate (Renografin-76) were compared in a double-blind, randomized study for their efficacy, safety, and hemodynamic effects as angiographic contrast agents in children. Forty-four children were randomly allocated to receive either iohexol or diatrizoate as a component of their routine or emergency cardiovascular evaluation. Following age stratification, baseline physiologic parameters were not significantly different between patients receiving either iohexol or diatrizoate. After systemic ventricular injection, iohexol produced significantly less hemodynamic alteration in systemic systolic blood pressure, systemic ventricular end-diastolic pressure, and dP/dt. Less alteration in heart rate and significantly less effect on the QT interval were seen with iohexol. Image quality was comparable, although significantly more patient mobility was associated with diatrizoate-meglumine. This study shows that iohexol, a nonionic contrast medium, causes less hemodynamic disturbance than diatrizoate-meglumine in children. Therefore, its use to be preferred in these potentially high-risk patients.

The natural course of supravalvar aortic stenosis and peripheral pulmonary artery stenosis in Williams's syndrome.

The haemodynamic findings from two serial cardiac catheterisations in ten patients with Williams's syndrome were reviewed. The median ages at study were one and nine years. Raised mean (SD) left ventricular peak systolic pressures associated with supravalvar aortic stenosis increased significantly with time from 121 (25) mm Hg to 153 (29) mm Hg. The peak systolic pressure drop between the left ventricle and aorta (measured in seven patients) increased significantly from 25 (25) mm Hg to 50 (35) mm Hg. Raised right ventricular peak systolic pressure associated with peripheral pulmonary artery stenosis (in eight patients) decreased significantly with time from 52 (26) mm Hg to 28 (6) mm Hg. Supravalvar aortic stenosis in Williams's syndrome seems to progress rapidly, and careful monitoring is indicated. There is a strong likelihood that peripheral pulmonary artery stenosis in Williams's syndrome will improve spontaneously with time.