Siblings of Infants with Heart Defects Are at Risk

A new study has found that brothers and sisters as well as parents of infants born with severe, life-threatening abnormalities of the left side of the heart have a fivefold increased risk of having a heart abnormality called bicuspid aortic valve.

A normal aortic valve has three cusps, or flaps, that open and close to regulate the blood flow. A bicuspid valve has only two, so patients with this disorder are predisposed to heart-valve infections and a narrowing of the valve later in life. The findings solidify the belief that such disorders are related to several genes, as few as two and as many as six.

"What this tells us, is that multiple other relatives including parents and siblings are at risk for progressive heart disease and that they should be screened by a cardiologist,” said coauthor Dr. Jeffrey Towbin, professor of pediatrics at Baylor College of Medicine (Houston, TX, USA; www.bcm.tmc.edu). These findings were reported in the September 2004 issue of Pediatrics.

About 0.9% of people in the general population have bicuspid aortic valve, but the rate among first-degree relations is five times greater. Currently, specialists do not recommend screening of close relatives of children with severe heart defects. These defects included congenital aortic valve stenosis, coarctation of the aorta, and hypoplastic left-heart syndrome.





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