CHILDREN’S HEALTH : Congenital Heart Disease

The word congenital simply means “present at birth” and so congenital heart disease (CHD) refers to defects in the heart a child is born with. These usually take the form of structural problems that arise due to the abnormal formation of the heart or major blood vessels and thus affects the way that blood flows through the heart. The defects can range from simple issues that can be solved through relatively simple surgery to complex ones which could potentially be life threatening.

There are numerous types of congenital heart defects with at least 18 distinct types being recognized. Of these, there are many different anatomic variations. These can however be categorized in these main groups:

  • Heart valve defects – Structural issues like a valve being too narrow, or in some cases, completely closed, might make it difficult for blood to get through. The valves may also not close properly and this might lead to leakages and impair the ability to pump blood correctly.
  • Heart wall defects – Developmental issues with the walls that separate the chambers (atria and ventricles) of the heart may cause blood to flow back up, mix and build up in places where it does not belong. This puts strain on the heart and may result in high blood pressure.
  • Blood vessel defects – The blood vessels that are responsible for carrying blood to and from the heart (arteries and veins) may be sending the wrong blood to the wrong places in the body, or not at all. It might also be a case of reduced blood flow and this might starve the organs of oxygen and may cause organ failure.
  • Heart muscle defects – This is when the heart does not pump blood as efficiently as it should and can lead to heart failure.
Some types of congenital heart diseases

CHD is the most common birth defect and it affects nearly 40,000 births per year in some countries and there are a total of about 1.4 million adults and 1.4 million children living with a CHD. The prevalence of some of the milder CHD’s in births are increasing while some remain more or less stable. Of these the most common CHD is Ventricular Septal Defect. Treatments of CHD has increased drastically in recent years with sufferers surviving well into adulthood. However, some will need continuous care throughout their lives for their condition.

Risk And Prevention

Although the exact cause of CHD is unknown, there are certain environmental and genetic factors that may play a role in the development of the disease:

  • Smoking – Smoking during pregnancy increases the risk the child developing a CHD.
  • Heredity – CHD’s appear to have more prevalence in families with a history of genetic diseases such as down syndrome. Such disorders can be detected during the baby’s development through testing.
  • Diabetes – The mother having type 1 or 2 diabetes causes an impairment in the development of the child’s heart, however gestational diabetes does not generally affect or increase the risk of a CHD.
  • Medications – A mother taking certain medications such as isotretinoin and lithium have been linked to cause CHD’s as well as other birth defects. In addition, the taking of alcohol may also contribute to the risk of CHD development.

What Are The Signs And Symptoms Of CHD

A CHD is usually detected during the pregnancy by an ultrasound, however in some cases symptoms may not develop until after the child birth and may include:

  • Cyanosis – a bluish tint to skin, lips and fingernails caused by lack of oxygenated blood.
  • Low birth weight
  • Feeding difficulties
  • Chest pain
  • Delayed growth
  • Breathlessness or trouble breathing
  • Feeding difficulties

When symptoms do not appear until many years after birth, they can include:

  • Dizziness
  • Trouble breathing
  • Swelling
  • Fainting
  • Abnormal heart rhythms

Diagnosis Of CHD

Many of the severe CHD’s are usually diagnosed during the pregnancy or very soon after birth. The milder ones however are not detected and diagnosed until the children are much older due to the fact that they often have no signs or symptoms. The doctor does a general physical exam and usually listens to the heartbeat and if a heart murmur (unusual sound between heartbeats) is heard, they may order more tests such as:

  • Echocardiography – This is essentially an ultrasound of the heart. It is used to create a moving picture of the patient’s heart and it is painless.
  • Chest x-ray – Creates a picture of the structure of the heart and lungs to observe any abnormalities such as enlarged heart or extra fluid build up in the lungs.
  • Cardiac catheterization – A thin tube is put into a blood vessel in an arm or leg to reach your heart and a dye is injected. X-ray videos are taken to view the inside of your heart.
  • Electrocardiogram (EKG) – This is used to measure the hearts electrical activity such as how fast it is beating and the rhythm.

Treatment Available For CHD

For many cases of CHD there is no treatment, it is necessary that they heal in their own time, while the more severe defects require more or extensive treatment. This may include:

  • Open-heart surgery – surgery is performed to close any holes, widen blood vessels or repair heart valves.
  • Implantable heart devices – Devices such as pacemakers or implantable cardioverter defibrillators (ICD’s) may prevent some of the complications associated with a CHD.
  • Catheter Procedures – Doctors use a catheter to thread a tube through a vein or artery all the way to the heart where they can use small tools to correct the defect.
  • Heart transplant – In rare cases when a CHD is too complicated to fix, a replacement with a healthy heart is required from a donor.


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