Cardiology

Reports outline cardiology study results from University of Pennsylvania

Published in Disease Risk Factor Week, July 19th, 2009

According to recent research published in the American Journal of Medical Genetics Part a, "The 22q11.2 deletion syndrome is characterized by a highly variable phenotype including a range of cardiac malformations. The most common cardiovascular features include a subset of conotruncal defects, perimembranous ventricular septal defects and aortic arch anomalies."

"This report describes a series of patients with 22q11.2 deletion syndrome with the novel cardiac finding of mild aortic root dilation. A chart review was performed on 93 patients with documented 22q11.2 deletion without significant congenital heart disease to determine the number of patients with aortic...

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Source: Disease Risk Factor Week (2009-07-19)

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