Congenital heart diseases or defect (CHDs)

Congenital heart diseases or defect (CHDs) is one of the most common types of birth defect
that affect the structure of a baby’s heart and the normal way the heart works. They can affect
the blood flows through the heart and out to the rest of the body. CHDs can vary from mild
(such as a small hole in the heart) to severe (such as missing or poorly formed parts of the
heart).
About 1 in 4 babies born with a heart defect has a critical CHD (also known as critical
congenital heart disease). 1  Babies with a critical CHD need surgery or other procedures in the
first year of life, sometimes even just after birth immediately.
Causes
The causes of CHDs among most babies are not known very well. Some babies have heart
defects because of changes in their individual genes or chromosomes. CHDs also are thought
to be caused by a combination of genes and other factors, such as things in the environment,
the mother’s diet, the mother’s health conditions, or the mother’s medication use during
pregnancy. For example, certain conditions a mother has, like pre-existing diabetes or obesity,
have been linked to heart defects in the baby. 2,3  Smoking during pregnancy as well as taking
certain medications have also been linked to heart defects. 2,3
Types
There are many types of congenital heart disease and they sometimes occur in combination.
Usually it is classified as Cyanotic (complex, right to left shunt) and non-cyanotic (non-
complex, left to right shunt) congenital heart disease. Some of the most common CHDs
include:
1. Septal defect – where there is a hole between left and right of the heart’s chamber.
2. Coarctation of the heart- where the main large artery of the body, called the aorta, is
narrow than normal.
3. Tetralogy of Fallot (TOF) – where several defects combined, including ventricular
septal defect, pulmonary valve and/or pulmonary artery stenosis, right ventricular
hypertrophy and overriding aorta.
4. Pulmonary valve stenosis – where the pulmonary valve, which controls the flow of
blood out of the lower right heart to the lungs, is narrow than normal.
5. Transposition of the great arteries – where the pulmonary and aorta valves and the
arteries they are connected to have switched positions.
6. Underdevelpoed heart – part of the heart does not develop properly making it difficult
for pumping enough blood around the body or lungs.
Signs and Symptoms
Signs and symptoms for CHDs depend on the type and severity of the particular defect. Some
defects might have few or no signs or symptoms. Others might cause a baby to have the
following symptoms:
 Blue-tinted nails or lips
 Rapid or troubled breathing
 Rapid heartbeat
 Tiredness and rapid breathing when feeding
 Sleepiness

 Easy to catch cold and pneumonia
 Swelling of the legs, tummy or around the eyes
 Extreme tiredness and fatigue
 Heart murmur
Diagnosis
Some CHDs may be diagnosed during pregnancy using a special type of ultrasound called a
fetal echocardiogram, which creates ultrasound pictures of the heart of the developing baby.
However, some CHDs are not detected until after birth or later in life, during childhood or
adulthood. If a healthcare provider suspects a CHD may be present, such as blue colour or
with a heart murmur, the baby can get some tests (such as echocardiogram, ECG X ray and
catheterization) to confirm the diagnosis.
Treatment
Treatment for CHDs depends on the type and severity of the defect present. Some affected
infants and children might need one or more open heart surgeries to repair the heart or blood
vessels.
Some can be treated without surgery, just using a procedure called cardiac catheterization
intervention therapy. A long tube, called a catheter, is threaded through the blood vessels into
the heart, where a doctor can take measurements and pictures, do tests, or repair the problem.
Sometimes the heart defect cannot be fully repaired, but these procedures can improve blood
flow and the way the heart works. It is important to note that even if their heart defect has
been repaired, many people with CHD are not cured.
By
Dr.Feiqiong

References
1. Oster M, Lee K, Honein M, Colarusso T, Shin M, Correa A. Temporal trends in
survival for infants with critical congenital heart defects. Pediatrics. 2013;
131(5):e1502-8.
2. Jenkins KJ, Correa A, Feinstein JA, Botto L, Britt AE, Daniels SR, Elixson M,
Warnes CA, Webb CL. Noninherited risk factors and congenital cardiovascular
defects: current knowledge: a scientific statement from the American Heart
Association Council on Cardiovascular Disease in the Young: endorsed by the
American Academy of Pediatrics. Circulation. 2007;115(23):2995-3014.
3. Patel SS, Burns TL. Nongenetic risk factors and congenital heart defects. Pediatr
Cardiol. 2013;34(7):1535-55.