Occurrence risk for congenital heart defects in relatives of patients with aortic stenosis, pulmonary stenosis, or ventricular septal defect.

BACKGROUND: Knowledge of the risk of occurrence of congenital heart defects in offspring of individuals with a congenital heart defect is important for genetic counseling and understanding the etiology of congenital heart diseases. METHODS AND RESULTS: A portion of the questionnaire mailed to all patients in the Second Natural History Study of Congenital Heart Defects (NHS-2) addressed marital status, pregnancy, miscarriage, and presence or absence of congenital heart defects or other congenital malformations in first-degree relatives. Offspring were not examined as a part of the study. For male probands with aortic stenosis (AS), three of 251 offspring had congenital heart disease, whereas one of 72 offspring of female probands with AS had congenital heart disease. For patients with pulmonary stenosis (PS), three of 176 offspring of male probands had congenital heart disease, whereas eight of 205 offspring of female probands had congenital heart disease. For male probands with ventricular septal defect (VSD), 10 of 334 offspring had congenital heart defects, and 11 of 384 offspring of female probands with VSD had offspring with congenital heart defects. The prevalence rate for noncardiac congenital anomalies in offspring of probands was 2%. CONCLUSIONS: Based on known congenital heart defects in offspring of probands in the NHS-2, occurrence rates of congenital heart disease in children of subjects with AS, PS, and VSD were 1.2% (confidence interval [CI], 0.34-3.1%), 2.8% (CI, 1.4-5.1%), and 2.9% (CI, 1.8-4.4%), respectively.

Second natural history study of congenital heart defects. Materials and methods.

Results of the location and recruitment efforts and comparisons of responses from patients who cooperated at different levels in the Second Natural History Study of Congenital Heart Defects are included because they influenced the choice of analytic methods and are essential to the generalizability of the results to the entire study cohort. Included are examination and data collection protocols (e.g., protocol definitions, test procedures, and data editing), statistical methods (e.g., box plots, survival curves, multivariable models, and rate adjustment), participation results (e.g., proportional odds analysis, mortality, location, recruitment, and full participants, including comparison of questionnaire responses and comparison of questionnaire response and physician history), and a discussion.

Factor VIII-von Willebrand factor in giant cell arteritis and polymyalgia rheumatica.

Levels of three factor VIII-von Willebrand factor components (von Willebrand antigen, ristocetin cofactor, and factor VIII coagulant) were higher in specimens of plasma from 27 patients with giant cell arteritis and 18 patients with polymyalgia rheumatica than in specimens from 21 normal control subjects. Values in patients with active giant cell arteritis were higher than those in patients with either inactive giant cell arteritis or active polymyalgia rheumatica. Levels of factor VIII-von Willebrand factor components tended to decline gradually after disease activity had been suppressed by corticosteroid therapy and therefore may be indicators of vascular damage. These levels, however, did not revert to normal rapidly in response to corticosteroid therapy as did the patients' symptoms and the usual laboratory measurements indicative of inflammation; thus, measurements of these components are unlikely to be useful in day-to-day management of these diseases. Electrophoretic analysis suggested that the elevated values are due to increased amounts of normal factor VIII-von Willebrand factor rather than to the presence of an abnormal molecule.