Genetic Testing in Congenital Heart Disease

2013 ◽  
Vol 4 (1) ◽  
pp. 53-57 ◽  
Author(s):  
Kimberly Y. Lin ◽  
Lisa C. A. D’Alessandro ◽  
Elizabeth Goldmuntz
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Genetic Testing ◽  
Congenital Heart

scholarly journals Genetic Testing Protocol Reduces Costs and Increases Rate of Genetic Diagnosis in Infants with Congenital Heart Disease

2017 ◽  
Vol 38 (7) ◽  
pp. 1465-1470 ◽  
Author(s):  
Gabrielle C. Geddes ◽  
Donald Basel ◽  
Peter Frommelt ◽  
Aaron Kinney ◽  
Michael Earing
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Genetic Testing ◽  
Congenital Heart ◽  
Genetic Diagnosis ◽  
Testing Protocol

scholarly journals UTILITY OF GENETIC TESTING IN INFANTS WITH ISOLATED CONGENITAL HEART DISEASE

2017 ◽  
Vol 69 (11) ◽  
pp. 635
Author(s):  
Kaitlin L'Italien ◽  
Sara Fitzgerald-Butt ◽  
Janet Simsic ◽  
Kim McBride ◽  
Jessica Bowman ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Genetic Testing ◽  
Congenital Heart

YIELD OF GENETIC TESTING IN NEONATES WITH CONGENITAL HEART DISEASE AND ASSOCIATION WITH CLINICAL OUTCOMES

2019 ◽  
Vol 73 (9) ◽  
pp. 603
Author(s):  
Shannon Nees ◽  
Katharine Press Callahan ◽  
Sonya Besagar ◽  
Teresa Lee ◽  
Volkan Okur ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Genetic Testing ◽  
Clinical Outcomes ◽  
Congenital Heart

scholarly journals Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics

2019 ◽  
Vol 27 (13) ◽  
pp. 1423-1435 ◽  
Author(s):  
Julie De Backer ◽  
Antoine Bondue ◽  
Werner Budts ◽  
Arturo Evangelista ◽  
Pastora Gallego ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Genetic Testing ◽  
European Society ◽  
Working Group ◽  
Congenital Heart ◽  
Human Genetics ◽  
Peripheral Vascular ◽  
Consensus Document ◽  
Aortic Pathology

Thanks to a better knowledge of the genetic causes of many diseases and an improvement in genetic testing techniques, genetics has gained an important role in the multidisciplinary approach to diagnosis and management of congenital heart disease and aortic pathology. With the introduction of strategies for precision medicine, it is expected that this will only increase further in the future. Because basic knowledge of the indications, the opportunities as well as the limitations of genetic testing is essential for correct application in clinical practice, this consensus document aims to give guidance to care-providers involved in the follow-up of adults with congenital heart defects and/or with hereditary aortic disease. This paper is the result of a collaboration between the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics. Throughout the document, the importance of correct counseling in the process of genetic testing is emphasized, indications and timing for genetic studies are discussed as well as the technical modalities of genetic testing. Finally, the most important genetic diseases in adult congenital heart disease and aortic pathology are also discussed.

scholarly journals Genetic Testing in Clinics for Congenital Heart Disease in Adults

2005 ◽  
Vol 46 (6) ◽  
pp. 1114-1115
Author(s):  
Leisa J. Freeman ◽  
Antonia Hardiman ◽  
Sheila Wood
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Genetic Testing ◽  
Congenital Heart

Genetic Testing Practices in Infants with Congenital Heart Disease

2013 ◽  
Vol 9 (2) ◽  
pp. 158-167 ◽  
Author(s):  
Jessica A. Connor ◽  
Robert B. Hinton ◽  
Erin M. Miller ◽  
Kristen L. Sund ◽  
Jennifer G. Ruschman ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Genetic Testing ◽  
Congenital Heart ◽  
Testing Practices
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