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Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American
Insights
Genetic testing for pediatric cardiovascular diseases is increasingly common. This statement addresses the unique challenges and best practices for genetic testing in infants, children, and adolescents with heart conditions.
Area of Science:
- Cardiovascular Genetics
- Pediatric Cardiology
- Genetic Disease
Background:
- Genetic cardiovascular diseases are common, encompassing conditions like cardiomyopathies and channelopathies.
- Clinical genetic testing is advancing diagnosis and management.
- Existing guidelines lack pediatric-specific recommendations.
Purpose of the Study:
- To provide a pediatric-focused statement on genetic testing for cardiovascular diseases.
- To address the unique challenges in testing this vulnerable population.
- To synthesize current literature on the topic.
Main Methods:
- Review and synthesis of existing literature.
- Focus on genetic testing in infants, children, and adolescents.
- Addressing challenges specific to pediatric populations.
Main Results:
- Highlights the need for tailored guidelines for pediatric cardiovascular genetic testing.
- Identifies key considerations for testing in young patients.
- Emphasizes the importance of genetic testing in pediatric cardiology.
Conclusions:
- A pediatric-focused approach is crucial for effective cardiovascular genetic testing.
- This statement serves as a guide for clinicians managing genetic heart conditions in children.
- Further research and guideline development are needed for pediatric cardiovascular genetics.
Abstract:
Genetic diseases that affect the cardiovascular system are relatively common and include cardiac channelopathies, cardiomyopathies, aortopathies, hypercholesterolemias, and structural diseases of the heart and great vessels. The rapidly expanding availability of clinical genetic testing leverages decades of research into the genetic origins of these diseases, helping inform diagnosis, clinical management, and prognosis. Although a number of guidelines and statements detail best practices for cardiovascular genetic testing, there is a paucity of pediatric-focused statements addressing the unique challenges in testing in this vulnerable population. In this scientific statement, we seek to coalesce the existing literature around the use of genetic testing for cardiovascular disease in infants, children, and adolescents.