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Understanding Congenital Heart Disease


Congenital heart disease is a general term used for a variety of birth defects that affect the normal functioning of the heart.

Congenital heart defects are structural problems with the heart, present at birth and can occur if any of the heart chambers, arteries, septum or valves don’t develop properly before the baby is born.

The Heart

The heart is divided into four chambers separated by a wall called the septum. The four chambers are:

(i) Two upper chambers called the atria:

  • Left atrium: collects blood returning from the lungs.
  • Right atrium: collects blood returning from the body.

(ii) Two lower chambers called the ventricles:

  • Right ventricle: pumps blood to the lungs.
  • Left ventricles: pumps blood to the body.

There are four heart valves which control how blood flows through the heart chambers and around the body:

  • Mitral valve: This separates the left atrium and the left ventricle.
  • Aortic valve: This separates the left ventricle from the aorta.
  • Tricuspid valve: This separates the right atrium and the right ventricle.
  • Pulmonary valve: Separates the right ventricle from the pulmonary artery.

Causes of Congenital Heart Disease

There are certain genetic and environmental risk factors that may play a role in the development of a congenital heart defect.

Some factors that increase the risk of congenital heart disease according to BHF and Mayo clinic include:

  • Diabetes: poorly controlled diabetes during pregnancy increases the risk of heart defects.
  • Medications: taking certain medications such as anticoagulants or antiepileptics while pregnant slightly increases the risk of congenital heart disease. Check with your doctor or medical professional before taking any medication while pregnant.
  • German measles (Rubella): a mother having had Rubella (a viral infection) while pregnant increases the risk of heart defects.
  • Heredity: congenital heart disease appears to run in families and is associated with many genetic syndromes such as Down’s syndrome.
  • Smoking and drinking: smoking and drinking while pregnant increases the risk of having a child with a congenital heart defect.

Symptoms of Congenital Heart Disease

Symptoms of congenital heart disease may present as:

  • Rapid breathing when a baby is feeding
  • Abnormal heart rhythms
  • Shortness of breath
  • Swelling of body tissue or organs
  • Excessive sweating
  • Extreme tiredness and fatigue
  • A blue tinge to the skin, lips, and fingernails (cyanosis)

Types of Congenital Heart Disease

There are many types of congenital heart disease, but some of the most common defects according to BHF include:

  • Coarctation of the aorta: where the longest blood vessel in the body (the aorta) is narrower than normal.
  • Septal defects: This is commonly referred to as ‘hole in the heart‘. It is a hole between two of the heart’s chambers.
  • Pulmonary valve stenosis: where the pulmonary valve is narrower than normal.
  • Transposition of the great arteries: where the pulmonary and aortic valves and the arteries they’re connected to have swapped positions.

Impact of Congenital Heart Defects

According to the American Heart Association (AHA), having congenital heart disease can increase the risk of developing other medical conditions such as:

  • Heart infection (endocarditis): the heart has a thin inner lining called endocardium. Endocarditis is an infection of this inner lining, which is caused by bacteria that enters the bloodstream and settles in the heart lining. Untreated, endocarditis can damage or destroy the heart valves. People with congenital heart defects have a greater risk of developing endocarditis.
  • Abnormal heart rhythms: congenital heart defects can increase the risk of abnormal heart rhythms. For example, a non-functional valve or malformed section of the heart can alter the heart’s rhythm, causing your heart to beat too fast, too slowly or irregularly.
  • Heart failure: also known as congestive heart failure, meaning the heart is not able to pump enough blood to meet the needs of the body. This may happen because of a defect in the heart that prevents blood from getting out into the circulation, thereby causing extra fluid to build up in the lungs, liver, around the eyes, and sometimes in the legs.
  • Stroke: stroke happens when blood suddenly can’t get through to a part of your brain, depriving the brain tissue of oxygen. A congenital heart defect can allow a blood clot to pass through the heart and travel to the brain which can trigger a stroke.
  • Pulmonary hypertension: meaning, the blood pressure in the lungs is higher than normal. Pulmonary hypertension is a type of high blood pressure in the arteries that supply the lungs. Congenital heart defects can cause more blood to flow to the lungs, increasing pressure on the heart to pump. This can eventually cause the heart muscle to weaken, causing a person to become tired, dizzy and short of breath.

Maintaining Heart Health

  • Eat a well-balanced diet.
  • Keep your follow-up appointments with your cardiologist.
  • Always take your medication as prescribed by your healthcare professional.
  • Make sure you have the necessary tests done when your doctor orders them.
  • Always follow any physical activity recommendations and restrictions by your cardiologist or your doctor.

The most important step in managing congenital heart disease is to know the type of existing defect, understand what it means and be able to follow the recommended care options. Increasing your knowledge in new ways, for example by participating in research to help improve or better understand your heart defect, can help to improve the effects of congenital heart disease.

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