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What Is Cyanotic Congenital Heart Disease? Learn About Its Symptoms, Diagnosis Treatment And Prognosis

What is Cyanotic Congenital Heart Disease?

Cyanotic congenital heart disease, as the name suggests, is a medical issue that is present from birth (1). This condition is characterized by reduced levels of oxygen in the blood. Cyanosis is a common symptom of cyanotic congenital heart disease.

The causes of cyanotic congenital heart disease are various birth defects, such as:

  • Problems within the aorta; this is the largest artery of the human body.
  • Heart valves issues; these are flaps in the heart, which are responsible for ensuring that the blood flows in the right direction.
  • Abnormalities in the large blood vessels which are leading from or to the heart.
  • In most of the patients, if there is only one defect, then there will be no cyanosis. In cyanotic congenital heart disease, there is more than one defect seen.

Imaging tests are done to confirm the defects that are causing cyanotic congenital heart disease and these include echocardiograms and chest x-rays. Medications can help in alleviating the symptoms of cyanosis. At the end of the day, surgery is needed to correct the defects causing this condition in infants. The severity of the defects determines the success of the surgery.

What are the Risk Factors for Cyanotic Congenital Heart Disease?

Most of the times, having a genetic factor is seen to be linked in infants having CCHD (3). Also the risk is more if there is a family history of congenital heart diseases. There are some genetic syndromes, which can be seen with the defects responsible for CCHD and these consist of: Turner syndrome, Down syndrome, Noonan syndrome and Marfan’s syndrome (3).

In some cases, there are other external factors, which are responsible for cyanotic congenital heart disease, such as exposure to certain drugs or toxic chemicals in pregnancy increase the risk for developing heart defects in the baby. Infections during pregnancy also increase the risk for CCHD. Gestational diabetes, which is not properly controlled, also increases the risk of the infant developing cyanotic congenital heart disease.

What are the Causative Defects for Cyanotic Congenital Heart Disease?

There are various physical defects in the heart which can result in CCHD. Some infants may be born with several defects. Common causes consist of (5):

Tetralogy of Fallot (TOF): This is the commonest cause of cyanotic congenital heart disease. This condition consists of four different defects that are (5):

  • Narrow pulmonary valve.
  • Hole between the right and left heart ventricles.
  • Misplaced aortic valve.
  • Thickening of the muscles of the right ventricle.

The above defects cause both the oxygenated and deoxygenated blood to mix together and get distributed all over the body (2).

Tricuspid Atresia: In this heart defect, there is abnormal development of the tricuspid heart valve or it is completely absent resulting in hindrance to the normal circulation of blood. Low-oxygen blood is pumped out to the body as a result.

Transposition of the Great Arteries (TGA): Newborn babies having this condition will have switched positions of the aortic and pulmonary valves with their arteries. This leads to lesser-oxygen blood getting circulated to the entire body via the aorta. Actually this blood should go to the lungs via the pulmonary artery.

Total Anomalous Pulmonary Venous Connection (TAPVC): This is a condition where the veins that are responsible for collecting oxygenated blood from the lungs and supply to the heart, get connected to the right atrium instead of the left atrium. Along with this defect, there can also be blockage in these veins between the heart and the lungs

What are the Symptoms of Cyanotic Congenital Heart Disease?

Cyanosis is the primary symptom of CCHD, where the skin takes on a bluish tint, especially in lips, fingers or toes due to insufficient oxygen. Difficulty in breathing especially with any exertion is another symptom of this condition. In some cases, the patient can also go through spells where the level of oxygen is very low resulting in cyanosis, anxiety and hyperventilation (4).

Other symptoms of cyanotic congenital heart disease depend on the physical defect and consist of (5):

Symptoms of Tetralogy of Fallot: Cyanosis, low birth weight, delayed growth, poor feeding, rapid breathing and rounded or clubbed large fingers.

Symptoms of Tricuspid Atresia: Fatigue, cyanosis, difficulty feeding, breathlessness, slow growth, excessive sweating and chronic respiratory infections.

Symptoms of Transposition of the Great Arteries: Rapid breathing, rapid heartbeat, heavy sweating and slow weight gain.

Symptoms of Total Anomalous Pulmonary Venous Connection without a blockage: Slow growth, shortness of breath and chronic respiratory infections.

Symptoms of Total Anomalous Pulmonary Venous Connection with a Blockage: Rapid heartbeat, cyanosis, rapid breathing and difficulty in breathing that worsens with time. 

Diagnosing Cyanotic Congenital Heart Disease

All the classic symptoms of this condition, such as cyanosis, abnormal heart sounds and rapid heartbeat will make the doctor test for heart defects. There are various tests done for definite diagnosis of cyanotic congenital heart disease and these are:

A chest x-ray is done to look at the heart outline and the location of different veins and arteries. Echocardiogram is also done to look at the heart in more detail.  An invasive test, such as cardiac catheterization can also be done to assess the interior chambers of the heart.

What is the Treatment for Cyanotic Congenital Heart Disease?

Treatment depends on the severity of symptoms and in some cases may not be needed also. Most of the times, surgery is needed to correct the physical defects in the heart so the child can continue to live a healthy life. The surgery is done immediately after birth if the heart defect is fatal. Otherwise the surgery can be delayed till the child has grown up a bit. In some cases, more than one surgery needs to be done.

If the surgery is delayed for some reason, then medications are given to treat and manage this condition and its symptoms. Medications can help in:

  • Better pumping of the heart.
  • Regulating the abnormal heart rhythms.
  • Removing the excess fluid from the body.
  • Keeping the blood vessels open.

What is the Prognosis for Cyanotic Congenital Heart Disease?

The prognosis for cyanotic congenital heart disease depends on the severity of the underlying defects. In case of mild defects, the child can live a normal lifestyle with fewer medications.  The severe cases require surgery and the doctor is the best person to determine the best treatment for your child. Discuss with your child’s doctor about the severity of the condition, the outlook and if there is any need for more procedures.


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Team PainAssist
Team PainAssist
Written, Edited or Reviewed By: Team PainAssist, Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:April 30, 2024

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