Congenital heart disease.
Reviewed by Dr. Ryan Moore Melomed Tokai
Congenital heart disease is an abnormality of the heart that a child is born with. Unfortunately, this condition is still missed in babies and children which can lead to severe long term problems if it is not detected early in life.
Congenital heart disease (CHD) is the most common congenital birth defect and nearly 1 in 100 newborns in South Africa will be affected by it. Nearly a quarter of these babies will have a severe or life-threatening (so-called “critical”) congenital heart defect that requires urgent intervention in the first few days of life - this includes urgent medications and procedures including open heart surgery. Children with less severe heart defects may initially seem well but only become ill later on in life.
This group of conditions arises when there is a problem with the development of the heart during fetal growth, especially during the first 8 weeks. The causes for CHD are poorly understood, but science has shown that it is likely due to a combination of genetic and environmental factors. Some genetic conditions, such as Down Syndrome are known to be associated with CHD.
This group of conditions arises when there is a problem with the development of the heart during fetal growth, especially during the first 8 weeks. The causes for CHD are poorly understood, but science has shown that it is likely due to a combination of genetic and environmental factors. Some genetic conditions, such as Down Syndrome are known to be associated with CHD.
Antenatally, the most powerful tool that we have for detecting CHD is a detailed Fetal Anomaly Scan - however this may miss more subtle conditions and not every pregnant woman has access to these services.
In the newborn baby a very simple and useful tool (in addition to a good cardiac examination) is Pulse Oximetry Screening which will detect three-quarters of critical CHD - chat to your paediatrician about this test at the bedside.
If congenital heart disease is missed it may later present with symptoms or signs of heart disease in their child:
- Signs of excess blood flow to the lungs such as shortness of breath (especially with feeding or playing), easily tiring or excessive sweating with feeding and poor weight gain. Your doctor may note that your child is growing poorly by plotting it on their growth chart. For a newborn baby, feeding is like exercise, and in some with CHD they may tire easily with feeds, stopping frequently or may sweat a lot.
- Signs of reduced blood flow to the lungs - some babies with critical CHD may have a blue discolouration of the of the lips, tongue and chest - so called “central cyanosis”. This is an indicator of low oxygen content in the blood as a result of “cyanotic CHD”. This is not the same as the blue discoloration of the hands and feet commonly seen in newborns after birth (“acrocyanosis”) - this is a benign condition and will resolve once baby is warmed nicely with socks and hand covers.
- Signs of poor systemic blood flow, including pale or dusky skin with sluggish blood flow or breathing difficulties.
If parents notice their babies to have the above signs, they need to seek medical advice urgently and be immediately assessed by a paediatrician/ paediatric cardiologist. In addition to an urgent medical assessment, your doctor will take a detailed history, including a family history - a history of congenital heart defects in the family means a higher risk for CHD in a newborn. Children who’s siblings or other family members suffered cot death or sudden cardiac death should also be assessed for CHD including disturbances of their heart rhythm.
If your doctor has any doubt or if you are still concerned they can arrange a referral to a paediatric cardiologist for a more detailed assessment including and echocardiogram.
Fortunately, with advances in modern medicine and medical science, many types of CHD can by treated and even cured with cardiac surgery. Advances in cardiac surgery and intensive care have made it possible for children with CHD to live healthy, normal lives. The first priority is early detection to ensure the best outcome!
National Congenital Heart Disease Day is 3 December - help us raise awareness for South Africa’s most common birth defect!