Young at Heart: Recent Advances in the Genetics of Congenital Heart Disease and Translational Care-Juniper Publishers
JUNIPER PUBLISHERS - OPEN ACCESS JOURNAL OF CARDIOLOGY & CARDIOVASCULAR THERAPY Abstract Congenital Heart disease affects almost 1% of babies born in the UK, but few receive a genetic diagnosis. Identifying a genetic cause is important for that individual’s healthcare, and that of their family. It enables accurate genetic counselling, including discussion of reproductive choices. Significant advances have been made in identifying genes that are involved in the developing heart and congenital heart disease, and research has moved away from single family studies towards genetic sequencing of large cohorts. This will bring new challenges for clinicians and researchers related to data sharing and incidental findings. In the future, we hope that new treatments can be developed based on our understanding of the complex genetic networks underlying development of the heart. Keywords: Congenital heart disease; Genetics; Inheritance; Chromatin; Sequencing; Syndromic; Non-syn...