A congenital heart defect is a problem with the structure of the heart. It is present at birth. Congenital heart defects are the most common type of birth defect. The defects can involve the walls of the heart, the valves of the heart, and the arteries and veins near the heart. They can disrupt the normal flow of blood through the heart. The blood flow can slow down, go in the wrong direction or to the wrong place, or be blocked completely. .


Congenital Heart Disease (CHD) is the most common congenital problem in children accounting for nearly 25% of all congenital malformations. The prevalence of CHD within India is approximately 4 cases per 1000 live births. Early recognition of such diseases is of immense importance as clinical presentation and deterioration can lead to sudden collapse. Incidence and prevalence of CHD vary worldwide. In Asia, estimated prevalence is 9.3/1000 live births while estimated total CHD birth prevalence in Europe is significantly higher than in North America (8.2/1000 live births vs. 6.9/100 live births).


Heart valve disorders like a narrowing of the aortic valve, which restricts blood flow. Hypoplastic left heart syndrome, where the left side of the heart is underdeveloped. Disorders involving holes in the heart, typically in the walls between the chambers and between major blood vessels leaving the heart, include:


There is no known reason for a child being born with a congenital heart disease. Scientists know that some types of congenital heart defects can be related to an abnormality in the number of an infant's chromosomes, single gene defects, or environmental factors. In most cases, there is no identifiable cause for the heart defect, and they are generally considered to be caused by multifactorial inheritance.

Multifactorial inheritance means that "many factors" (multifactorial) are involved in causing a birth defect. The factors are usually both genetic and environmental, where combinations of genes from both parents, in addition to unknown environmental factors, combine to produce the trait or condition.

Maternal factors and CHD

However, some types of congenital heart defects are known to occur more often when the mother comes in contact with certain substances during the first few weeks of pregnancy, while the baby's heart is developing. Some maternal illnesses and medications taken for these illnesses have been shown to affect the heart's development.

Women who take anti seizure medications may have a higher risk for having a child with congenital heart disease, as do women who take lithium to treat depression. Mothers who have phenylketonuria (PKU). Women with insulin-dependent diabetes (particularly if the diabetes is not well-controlled) or lupus may have a higher risk of having a child with heart defects. Rubella, a virus that most people are immunized against when they received the MMR vaccine, is known to cause birth defects A mother who contracts rubella during her pregnancy has a very significant chance of having a baby with birth defects, including congenital heart disease.

Family history and CHD

In the general population, about 1% of all children are born with congenital heart disease. However, the risk increases when either parent has CHD, or when another sibling was born with CHD.

Some heart defects are considered to have autosomal-dominant inheritance. This means that a parent with the defect has a 50% chance, with each pregnancy, to have a child with the same heart defect, and males and females are equally affected. Similarly, there is also a 50% chance that a baby will not be affected.


Call the doctor immediately if your child has any of these symptoms.

  • A bluish tinge or color (cyanosis) to the skin around the mouth or on the lips and tongue, nails.
  • An increased rate of breathing or difficulty breathing.
  • Poor appetite or difficulty feeding (which may be associated with color change)
  • sweating while feeding.
  • failure to thrive (failure to gain weight or weight loss).
  • decreased energy or activity level prolonged or unexplained fever.

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.


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 pediatrician suspects a CHD may be present, the baby can be referred to a cardiac pediatrician and get several tests (such as an echocardiogram) to confirm the diagnosis.

Treatment for CHDs depends on the type and severity of the defect present. Some affected infants and children might need one or more surgeries to repair the heart or blood vessels. Some can be treated without surgery using a procedure called cardiac catheterization. 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 can’t be fully repaired, but these procedures can improve blood flow and the way the heart works.

Living with a CHD

As medical care and treatment have advanced, infants with CHDs are living longer and healthier lives. Many children with CHDs are now living into adulthood. Many people with a CHD lead independent lives with little or no difficulty

People with a CHD need routine checkups with a cardiologist (heart doctor) to stay as healthy as possible. They also might need further operations after initial childhood surgeries. It is important for people with a CHD to visit their doctor on a regular basis and discuss their health, including their specific heart condition, with their doctor.


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