AHA Calls for Individualized Approach to Pediatric Cardiovascular Genetic Testing
Genetic testing of children can play a key role in determining a child’s risk of developing heritable cardiovascular disease. But testing should be limited to children with a high likelihood of disease. It should also be undertaken as part of a specialized multidisciplinary effort that involves pre- and post-testing. Those, at least, are the key points made in a new scientific statement from the American Heart Association (AHA). The Diagnostic Challenge Analysis of genetic alterations at the gene/chromosome or DNA sequence level is capable of detecting many common diseases affecting the cardiovascular system, such as cardiac channelopathies, cardiomyopathies, aortapathies, hypercholesterolemias and structural diseases of the heart and major blood vessels. Accordingly, genetic testing is often used to inform diagnosis, clinical management and prognosis of cardiovascular disease. Tests can be performed diagnostically in individuals suspected of having a cardiovascular genetic disease or to gauge risk for a relative of someone with a pathogenic or likely pathogenic variant and cardiovascular disease. There are a number of existing guidelines and best practices for cardiovascular genetic testing. But very few of them focus on the pediatric setting. That poses a problem to the extent that infants, children and adolescents are a vulnerable population that poses unique […]

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