Pediatric cardiology
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Pediatric cardiology · Nov 2005
Elastin mutation screening in a group of patients affected by vascular abnormalities.
Supravalvular aortic stenosis is an uncommon but well-characterized congenital form of left ventricular outflow obstruction. The lesion involves the ascending aorta and often occurs in association with pulmonary arterial stenoses or stenoses of other arteries, especially at major branch points. It can occur sporadically, as an autosomal dominant condition, or as one component of Williams-Beuren syndrome. ⋯ We report the results obtained in a mutation screening of the elastin gene in 28 patients with supravalvular aortic stenosis and other vascular abnormalities. The aim of the screening was to characterize the molecular cause of this lesion. We have detected 11 changes, including nine polymorphisms and two novel putative missense mutations.
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Pediatric cardiology · Nov 2005
Combining pulse oximetry and clinical examination in screening for congenital heart disease.
The objective of this study was to evaluate combined pulse oximetry and clinical examination as a screening method for congenital heart disease (CHD) in asymptomatic newborns. Asymptomatic newborns were screened for CHD using pulse oximetry and clinical examination before their discharge from the nursery. Oxygen saturation > or =94% was considered normal. ⋯ The positive predictive value of the combined tool was 66.7%. We conclude that combining pulse oximetry and clinical examination can enhance the clinician's ability to detect life-threatening CHD in a timely manner. This screening method should become a part of the discharge plan for every newborn.