Williams syndrome is a multifaceted disorder that includes a spectrum of cardiovascular anomalies. Due to its rare occurrence, outcome data for operations and cardiac catheterization are limited. We reviewed data from 242 individuals from the Pediatric Cardiac Care Consortium (PCCC) with Williams syndrome and associated cardiovascular lesions, and their frequency, and assessed their effects on mortality. In the PCCC, from 1984 to 1999 there were approximately 100,000 entries for cardiac procedures, involving more than 62,000 patients. The diagnosis of Williams syndrome was based on clinical features and determined by each site. Most patients were diagnosed with the availability of the FISH probe for region 7q11.23. Using a spreadsheet application, Microsoft Excel, the selected patients were analyzed for various types of cardiac anomalies. The most common cardiovascular lesions and the mortality rate in patients with Williams syndrome were examined. A complete tabulation of all cardiovascular lesions was assembled. There were 292 catheterizations and 143 operations reported to the PCCC. One hundred six patients had both an operation and a catheterization. The three main cardiovascular anomalies were supravalvular aortic stenosis (SVAS; 169), pulmonary artery stenosis (PAS; 130), and coarctation or aortic arch hypoplasia (Arch; 32). One hundred five patients had a single lesion, 70 with SVAS, 29 with PAS, and 6 with an arch anomaly. Ninety-two had more than one lesion: 80 with SVAS and PAS, 7 with PAS and Arch, and 5 with SVAS and Arch. Seventy individuals have only SVAS, 29 PAS, and 6 Arch alone. There was a total of 15 deaths. The mortality rate was highest in the group with the combination of SVAS and PAS (7 surgical and 5 catheter; 12 of 80 patients [15%]; p = 0.0001, chi(2)). In conclusion, our data represent the largest collection of individuals with Williams syndrome who underwent cardiac catheterization and/or operation. The data suggest that children with Williams syndrome and bilateral outflow tract obstruction have statistically and clinically significantly higher mortality associated with catheterization or operation.

The TDI-derived strain rate showed worsened ventricular dyssynchrony with CDOO and improvement with BDOO. Cardiac index and QRS duration were improved by BDOO compared with CDOO. This suggests that short-term pacing with BDOO may benefit children with CHD needing pacing in the postoperative period.

A specific and sensitive radioimmunoassay (RIA) for the N-terminal fragment of proatrial natriuretic peptide (NproANP) was developed. Antiserum raised in rabbits against a mixture enriched with prohormone was 100% cross-reactive with human proANP(1-30). Plasma concentrations of proANP(1-30) and ANP immunoreactivities (ir-) were simultaneously measured in healthy subjects and patients with congestive heart failure (CHF; 26 dilated cardiomyopathy and 5 ischemic heart disease). High plasma levels of both ir-proANP(1-30) and ir-ANP were detected in CHF patients. Circulating ir-ANP levels were elevated in New York Heart Association functional Classes II and III patients but not in Class I patients. However, plasma levels of ir-proANP(1-30) were higher in asymptomatic patients than in healthy subjects, and markedly increased in patients of Classes II and III. Analysis of ir-proANP(1-30) by gel filtration chromatography or reverse-phase high pressure liquid chromatography revealed a 10 kDa peptide circulating as a distinct entity. These findings indicate that: (i) the most probable form of NproANP in human plasma is a 10 kDa peptide and (ii) in CHF patients the rise in plasma ir-proANP(1-30) levels is more pronounced than the variation in plasma ir-ANP. Thus, NproANP plasma levels may prove to be a more sensitive marker of left ventricular dysfunction than ANP.

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The neonatal presentation of Ebstein's anomaly is a distinct cyanotic lesion for which little can be done other than to maintain ductal patency or perform palliative surgery if improvement does not occur. We report two cases in which sildenafil was introduced to assist previously failed attempts at weaning of prostaglandin.