Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association

ME Pierpont, M Brueckner, WK Chung, V Garg… - Circulation, 2018 - Am Heart Assoc
This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

Down syndrome: an insight of the disease

A Asim, A Kumar, S Muthuswamy, S Jain… - Journal of biomedical …, 2015 - Springer
Down syndrome (DS) is one of the commonest disorders with huge medical and social cost.
DS is associated with number of phenotypes including congenital heart defects, leukemia …

A change of heart: new roles for cilia in cardiac development and disease

L Djenoune, K Berg, M Brueckner… - Nature Reviews Cardiology, 2022 - nature.com
Although cardiac abnormalities have been observed in a growing class of human disorders
caused by defective primary cilia, the function of cilia in the heart remains an underexplored …

Down syndrome—recent progress and future prospects

FK Wiseman, KA Alford, VLJ Tybulewicz… - Human molecular …, 2009 - academic.oup.com
Down syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and is associated
with a number of deleterious phenotypes, including learning disability, heart defects, early …

[HTML][HTML] Genetics of congenital heart disease: a narrative review of recent advances and clinical implications

J Yasuhara, V Garg - Translational Pediatrics, 2021 - ncbi.nlm.nih.gov
Congenital heart disease (CHD) is the most common human birth defect and remains a
leading cause of mortality in childhood. Although advances in clinical management have …

Cardiovascular disease in Down syndrome

P Versacci, D Di Carlo, MC Digilio… - Current opinion in …, 2018 - journals.lww.com
Cardiovascular disease in Down syndrome : Current Opinion in Pediatrics Cardiovascular
disease in Down syndrome : Current Opinion in Pediatrics Log in or Register Subscribe to …

Genetic factors in non-syndromic congenital heart malformations.

MW Wessels, PJ Willems - Clinical genetics, 2010 - search.ebscohost.com
Abstract Wessels MW, Willems PJ. Genetic factors in non-syndromic congenital heart
malformations. The genetic defect in most patients with non-syndromic congenital heart …

An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects

C Ackerman, AE Locke, E Feingold, B Reshey… - The American Journal of …, 2012 - cell.com
About half of people with trisomy 21 have a congenital heart defect (CHD), whereas the
remainder have a structurally normal heart, demonstrating that trisomy 21 is a significant risk …

[HTML][HTML] Genetic testing in congenital heart disease: A clinical approach

MA Chaix, G Andelfinger, P Khairy - World journal of cardiology, 2016 - ncbi.nlm.nih.gov
Congenital heart disease (CHD) is the most common type of birth defect. Traditionally, a
polygenic model defined by the interaction of multiple genes and environmental factors was …

Genetic basis of congenital cardiovascular malformations

SR Lalani, JW Belmont - European journal of medical genetics, 2014 - Elsevier
Cardiovascular malformations are a singularly important class of birth defects and due to
dramatic improvements in medical and surgical care, there are now large numbers of adult …