![]() ![]() Now, more than 90% of children with CHD survive into adulthood due to significant advances in disease recognition and improved medical and surgical management across the lifespan ( 2- 5). Although CHD remains a leading cause of morbidity and mortality in childhood, the population of adults with CHD is dramatically expanding. CHD encompasses a wide spectrum of defects from simple malformations with a favorable prognosis to more complex and severe lesions that require multiple catheter-based or surgical interventions with uncertain long-term outcomes. Furthermore, we highlight the clinical implications of genetic findings to predict and potentially improve clinical outcomes in patients with CHD.Ĭongenital heart disease (CHD) is the most common birth defect, affecting nearly 1% of all live births ( 1). In this review, we provide an updated summary of the established genetic contributors to CHD and discuss recent advances in our understanding of the genetic architecture of CHD along with current challenges with the interpretation of genetic variation. Although variant prioritization and interpretation of pathogenicity remain challenges in the field of CHD genomics, advances in single-cell genomics and functional genomics using cellular and animal models of CHD have the potential to provide novel insights into the underlying mechanisms of CHD and its associated morbidities. Recent advancements in genetic technologies, including massively parallel sequencing, have allowed for the discovery of new genetic etiologies for CHD. ![]() Therefore, the elucidation of genetic etiologies of CHD not only has important clinical implications for genetic counseling of patients and families but may also impact clinical outcomes by identifying at-risk patients. Although advances in clinical management have improved the survival of children with CHD, adult survivors commonly experience cardiac and non-cardiac comorbidities, which affect quality of life and prognosis. Congenital heart disease (CHD) is the most common human birth defect and remains a leading cause of mortality in childhood. ![]()
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |