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Congenital heart disease 

Congenital heart disease
Chapter:
Congenital heart disease
Author(s):

Perry Elliott

, Pier D. Lambiase

, and Dhavendra Kumar

DOI:
10.1093/med/9780198829126.003.0005
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date: 27 June 2022

This chapter gives an overview of congenital heart disease (CHD), including the genetics that underpins its presentations, general aspects of management, and the genetic consultation in CHD. Individual genetic investigations are outlined (chromosomal microarray and molecular genetics), and then referrals for genetic counselling. The chapter then goes on to outline individual congenital heart diseases, including total anomalous pulmonary venous connection (TAPVC), complete atrioventricular septal defect, tetralogy of Fallot, hypoplastic left heart syndrome, transposition of the great arteries, truncus arteriosus, supravalvar aortic stenosis, coarctation of the aorta, and interruption of the aortic arch. Finally, prenatal diagnosis and management are discussed.

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