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Severe heart defect likely caused by genetic factors
Date:10/10/2007

ve with HLHS or an associated heart defect. Of 193 blood relatives evaluated between the ages of 3 days and 74 years, 21.4 percent had HLHS or associated heart defects. In families where one child already had HLHS, the risk of HLHS recurring in a sibling was 8 percent while the risk of a sibling having an HLHS-associated cardiovascular defect was 22 percent. In families where a child and one parent had HLHS, the recurrence risk increased dramatically to 21 percent for recurring HLHS and 25 percent for an associated defect. All participants were evaluated using echocardiography to determine specific phenotype, or the visible heart characteristics and defects found among the different family test groups. During those examinations researchers diagnosed 12 new cases of associated defects among relatives of HLHS patients.

Researchers recommend further studies to pinpoint specific genes responsible for the condition. Finding the genetic basis of HLHS could have significant implications for treating children with the disease, said D. Woodrow Benson, M.D., Ph.D., director of Cardiovascular Genetics at Cincinnati Childrens and the studys senior author. This includes identifying possible interventions during fetal life (such as catheter-based procedures), the most appropriate postoperative drug therapies for individual children and determining the potential risks for failure of the right ventricle.

By using family based linkage analysis, where specific genetic traits are mapped, it should be possible to identify the genes that cause the disease, Dr. Benson said. Once we know what genes are involved we can study how the disease developments, which may lead to new treatment approaches.

Earlier studies in animals indicate HLHS may develop because of embryonic alterations in blood flow, such as a premature narrowing of the aortic valve and foramen ovale (which in the fetal heart allows blood to enter the left atrium from the right). Other studies have
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Contact: Nick Miller
513-803-6035
Cincinnati Children's Hospital Medical Center
Source:Eurekalert

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