Congenital heart disease is a term used to describe a range of birth defects that affect the normal functioning of the heart. An estimated 6 in every 1000 babies born in England are affected by this condition, which can manifest itself as holes between the heart chambers, blockages in the pathways from the heart to the lungs or body, or abnormal connections between the chambers and the vessels of the heart.
There are over 30 different types of congenital heart disease that fall into 3 main categories:
Septal defects- there is a hole between the chambers of the heart (atrial, ventricular or atrioventricular), that places extra strain on the chambers causing symptoms such as fatigue and shortness of breath.
Obstruction defects- there is a partial or sometimes complete blockage of the flow of blood through the various chambers of the heart (e.g. aortic or pulmonary stenosis), which can cause symptoms such as chest pain and dizziness.
Cyanotic heart disease- one or more defects within the heart leads to a lack of oxygen being pumped around the body which can trigger symptoms such as cyanosis (blue discolouration of the skin), breathing difficulties and persisting tiredness.
85% of children with congenital heart defects are now living into adulthood with relatively normal lives. Causes are unclear though are thought to include development problems during pregnancy, e.g. maternal rubella, alcohol, illegal drugs and over-the-counter medications, maternal diabetes and genetic conditions such as Down's syndrome. The following diagram illustrates a ventricular septal defect and the potential passageway of deoxygenated blood that can bypass going to the lungs for oxygen and enter into the left ventricle directly:
While medical therapy needs to be optimised to reduce the work load on the heart, atrial and ventricular septal defects can be repaired through open heart surgery or less invasively through transcatheter repair during which a closure device is used across the defect with good effect, a quicker recovery time and no scarring from invasive operations. Obstructive defects e.g. pulmonary stenosis can be monitored but may eventually require balloon dilatation called valvuloplasty. Residual holes that persist into adulthood e.g. patent foramen ovale, can also be closed percutaneously ina procedure similar to cardiac catheterization.