Cyanotic Heart Disease

Overview of Cyanotic Heart Disease

Cyanotic diseases are a collection of heart diseases that affect you from birth. These are congenital diseases (i.e diseases that are present since birth). 

Cyanotic diseases occur because of the low oxygen supply to the blood. This low oxygen supply results in a condition called “Cyanosis”. This gives a bluish color to the skin. Babies born with cyanotic heart diseases have bluish skin and are sometimes referred to as blue babies. 


Signs and Symptoms of Cyanotic Heart Disease

The symptoms of TOF consist of

  • Low weight at the time of birth 
  • Cyanosis 
  • Rapid breathing 
  • slow growth 
  • Clubbed, rounded, or large fingers

The symptoms of TGA are 

  • Elevated heart rate 
  • Rapid breathing 
  • Heavy sweating 
  • slow/no weight gain 

The symptoms of Tricuspid Atresia include

  • Fatigue 
  • Shortness of breath 
  • Cyanosis 
  • Delayed growth 
  • Heavy sweating 
  • Chronic respiratory infections 

The symptoms of TAPVC are also much similar to Tricuspid Atresia and TGA. 


Types of Cyanotic Heart Disease

Causes of Cyanotic Heart Disease

Several birth defects can lead to these diseases. Some of these are:

Problems with the Heart Valves 

  • Valves are basically like flaps. They direct the blood flow in the right direction. Issues with valves might include: 
  • The tricuspid valve may not be present or does not open wide enough 
  • The pulmonary valve may not be present or does not open wide enough 
  • Blockage/ Interruption in the aorta  
  • Aorta is the largest artery in the body. Interruption in the aorta can also cause cyanotic heart diseases. 

Tetralogy of Fallot (TOF)

TOF is the combination of four different defects. These are: 

  • A narrow pulmonary valve 
  • A hole between the right and left ventricle 
  • Thickening of ventricle muscles 
  • Mispositioned aortic valve

Transposition of the Great Arteries (TGA)

In infants who have TGA, their pulmonary and aortic vein gets switched with arteries. This causes a low oxygenated blood supply to the rest of the body through the aorta. When this blood should be going to the lungs through the pulmonary artery. 

Tricuspid Atresia

 In this condition, the tricuspid valve does not function properly or is missing entirely. This results in low-oxygenated blood throughout the body. 

Total Anomalous Pulmonary Venous Connection (TAPVC)

In this condition, the veins that are responsible for carrying the oxygen-enriched blood from the lungs to the heart are connected to the right atrium when instead they should be connected to the right atrium. 

Some issues that can cause Cyanotic Heart Diseases include: 


  • Chemical exposure 
  • Consumption of drugs during pregnancy 
  • Syndromes like down syndrome, Turner syndrome, etc. 
  • Infections during pregnancy 
  • Side effects of some medicines used during pregnancy 
  • Highly elevated or dropped levels of sugar in women who have diabetes during pregnancy
  • Thickening of the wall of the right ventricle
  • A narrow pulmonary valve

Risk Factors of Cyanotic Heart Disease

Some of the factors that can increase your risk of suffering from cyanotic heart disease include: 

  • Family History: The problem of cyanotic heart disease runs in families. Thus, your family history plays an important role as a disease risk factor.
  • Genetic Conditions: Several genetic conditions are important risk factors for cyanotic heart diseases. These genetic conditions include Down’s syndrome, Turner syndrome, and Marfan syndrome.
  • Pregnancy Complications: Several pregnancy complications can significantly increase your risk of suffering from cyanotic heart diseases. These include infections during pregnancy, uncontrolled diabetes, and exposure to toxins during pregnancy. 



As the exact cause of the disease is not known, one can’t eliminate the chances of suffering from the disease. However, following good practices during pregnancy can significantly lower the chances of cyanotic heart disease. Here are some of the pregnancy rules you can live by:

  • Avoiding exposure to toxins
  • Taking your pregnancy supplements regularly
  • Getting yourself vaccinated
  • Avoiding infection contraction during pregnancy
  • Limiting alcohol or tobacco consumption
  • Keep your sugar level in check
  • Visiting your physician regularly for pregnancy risk assessment


The symptoms like shortness of breath, rapid breathing, fatigue, etc can help you indicate an issue. But remember, you cannot simply diagnose these diseases on your own. Consult a doctor as soon as you feel that your child is exhibiting some signs of these diseases. 

X-rays usually show any abnormality present in the heart. For more detailed results, your doctor may ask you for an echocardiogram (ultrasound of the heart). Another important test is a cardiac catheter. Your doctor may also ask for a Complete Blood Count (CBC) test. MRI Scan and chest X-Ray also help in the diagnosis of these diseases.   


Treatment of Cyanotic Heart Disease | When to Consult a Doctor

In most cases, surgery brings the best results. However, until surgery, medication can also help. Medication helps in the following ways: 

  • Through the elimination of extra fluids in the body 
  • By keeping the vessels open 
  • Regulating the heart rate
  • Help the heart to pump better 

If you exhibit any concerning signs and symptoms of cyanotic heart disease, consult a cardiologist as soon as possible.