A Guide to Cyanotic Congenital Heart Disease


Congenital Heart Diseases (CHD) are abnormalities in the structure of the heart or in the great vessels of the intra-thoracic that occurs at the time of development of the fetus. The major sort of defect at birth and the leading factor of death among kids suffering from congenital deformities. Congenital Heart Disease (CHD) is divided into two sections i.e. cyanotic and non-cyanotic (severe) CHD.

Cyanotic Congenital Heart Disease (CCHD)

It is defined or termed as a disease present at the time of birth. It results in decreased amounts/quantity of oxygen in the blood. One of the major symptom presents is cyanosis i.e. skin or mucous membrane gets a bluish color.

There are various defects at the time of birth that results in different kinds of heart diseases, such as:

The disease of the heart valve i.e. the heart flaps that keeps an assurance that the blood flow is in the right direction/way.

An issue with the aorta i.e. the largest artery in the body.

Problems in the blood vessels which are large i.e. go to and fro the heart.

If the presence of only one problem or defect then it does not indicate cyanosis. Mainly the presence of greater than one problem or defect is seen in cyanotic congenital heart diseases (CCHD).

For diagnosis of the condition, imaging techniques are used such as Chest X-rays and Echocardiograms. Apart from this medicines/drugs are also used to prevent the symptoms for cyanosis. Majorly surgeries need to be done for the correction of the defect/problem that causes the disease/condition. How successful the surgery depends on the seriousness of the condition/defect.


“Normally the blood returns from the body and flows through the heart and lungs.”

  • Low Oxygen Blood (Blue Blood) goes to the right part of the heart from the body.
  • The right part of the heart helps in pumping the blood to the lungs, where it takes up higher oxygen and gets red.
  • The oxygenated blood goes back to the left side of the heart via the lungs, which then pumps the blood to different parts of the body.

If an individual is born with a defect, it can vary the flow of blood via the heart and lungs. These conditions/defects result in decreased flow of blood to the lungs. This also leads to the mixing of the blood i.e. red and blue blood. This results in decreased blood filled with oxygen to be pumped to different parts of the body. This causes:

  • Lesser oxygenated blood is passed to different parts of the body.
  • If lower levels of oxygen are supplied to the body, it results in discoloration of the skin i.e. blue.

Sometimes the defect of the heart also includes the valves of the heart. This results in the mixing of the blood i.e. red and blue via “abnormal heart channels.” The role of the heart valves is to bring blood to and from the heart, in-between the heart and large blood vessels. The opening of the valve is big enough for the passage of the blood, which then shuts down to avoid the backflow of the blood.

Defect of the heart valves that result in cyanosis

Tricuspid Valve: This valve is present in the middle of the two chambers on the right part of the heart. This might be not present or not able to open sufficient/adequate.

Pulmonary Valve: This valve is present in the middle of the heart and lungs. This might also not be present or not able to open sufficient/adequate.

Aortic Valve: This valve is present in the middle of the heart and blood vessels to different parts of the body. This valve is not able to open sufficient or adequate.

Signs and Symptoms of Heart Defect

A few of the defects of the heart result in main issues right after birth. Some of the symptoms consist of blue coloration of the lips, fingers, and toes that occurs due to decreased content of oxygen in the blood. This happens when either the child is at rest or is active.

The main symptom for CCHD is Cyanosis i.e. blue coloration of the skin or mucous membrane due to a decrease in the flow of blood. This is majorly shown in the lips, toes, and fingers.

It would also result in problems in breathing, majorly after exercise or work-out. Few of the kids also face issues of “spells” and at this time the levels of oxygen are decreased. Due to which they get eager, show the blue coloration of the skin and mucous membrane and hyperventilation.

Few of the children face breathing issues (dyspnoea). To get relieved from breathing issues, they might have to go in a squatting position.

There are times of “spells” in this condition the body is starved/ insufficient of oxygen. The symptoms consist of:

  • Eagerness
  • Fast breathing i.e. hyperventilation
  • Immediate increase in the blue coloration of the skin
  • At the time of feeding, the babies sweat a lot and the weight gain is not up to the mark.
  • There could also be sensations of fainting or pain in the chest.
Other symptoms are based on the kind of cyanotic heart disease. These consist of:
  • Reduction in the appetite, issues with feeding and growth is poor
  • Skin gets grey
  • Face gets puffy
  • Feeling fatigued or tired all the time

Various defects consist of irregularities in the development of valve or the position or association “between the blood vessels.” The most important ones are what is termed as “5 Ts.” The common cyanotic congenital heart defects include:

  • Tetralogy of Fallot
  • Transposition of the Great Arteries
  • Tricuspid Atresia
  • Total Anomalous Pulmonary Venous Connection
  • Truncus Arteriosus
Defects that result in cyanotic congenital heart disease (CCHD) Tetralogy of Fallot:

This is one of the “common cause” of a cyanotic congenital heart defect. It is a mixture of four distinct defects.

  • In-middle of the right and left ventricle of the heart is a hole.
  • Pulmonary Valve is narrowed.
  • The muscles of the right ventricle are thickened.
  • An aortic valve is not in place i.e. incorrectly positioned or missing.

This condition results in the mixing of the oxygenated and deoxygenated blood which gets supplied to different parts of the body.

Transposition of the great arteries (TGA)

In this condition, there is a change in position of the pulmonary and aortic valves with their arteries. This would lead to a decreased quantity of blood getting pumped to different parts of the body via the aorta. This blood should go via the pulmonary artery to the lungs.

Tricuspid Atresia

In this condition/defect, the development of the tricuspid heart valve does not happen properly or is completely missing. This affects normal blood flow. As a result, blood with low oxygen is supplied to the body.

Total Anomalous Pulmonary Venous Connection (TAPVC)

When the vein that would be getting oxygen-rich blood to the heart via lungs are attached to the right atrium. The connection of the vein should be to the left atrium. This condition could also come along with a block in these veins that are situated in-between the lungs and heart.

There are symptoms, which occur depending on the specific “physical defect”:
Symptoms for Tetralogy of Fallot:

  • Birth Weight is low
  • Cyanosis (blue-coloration of the skin and mucous membrane)
  • Feeding gets poor
  • Fingers get clubbed, rounded or large
  • Growth is delayed
  • Breathing gets fast/rapid
Symptoms for Transposition of the great arteries (TGA)
  • The beating of the heart gets rapid/faster
  • Breathing gets rapid
  • Weight gain slows down
  • Sweating increases
Symptoms for Tricuspid Atresia

  • Cyanosis (blue coloration of the skin and mucous membrane)
  • Fatigue or tiredness
  • Breathlessness
  • Feeding gets difficult
  • Growth slows down
  • Chronic Respiratory Infections
Symptoms of Total Anomalous Pulmonary Venous Connection (TAPVC) without blockage
  • Breathlessness
  • Chronic respiratory Infections
  • Growth is slow
Symptoms of Total Anomalous Pulmonary Venous Connection (TAPVC) with blockage
  • Cyanosis (blue coloration of the skin and mucous membrane)
  • The beating of the heart increases rapidly
  • Breathing gets rapid
  • Problems in breathing and gets acute with time
A few of the medical issues in the mother might result in higher chances of cyanotic heart conditions. These include:
  • Exposure to chemicals
  • Syndromes are genetic and related to chromosomes.
  • Infections that occur during pregnancy. For example: Rubella.
  • Uncontrolled diabetes during pregnancy
  • Certain medications that were prescribed by the physician or taken on its while pregnant.
  • Street drugs i.e. illegal drugs used while pregnant.
Elaboration on Genetic Defect

A baby would be born with this condition with a genetic factor. If there is a family history of congenital heart conditions, an infant is at a higher chance of suffering from CCHD (cyanotic congenital heart disease). Some of the genetic syndromes could come along with problems/defects that result in CCHD (cyanotic congenital heart disease). These consists of:

  • Down syndrome
  • Turner syndrome
  • Marfan’s syndrome
  • Noonan Syndrome

Ways to diagnose cyanotic congenital heart disease

Symptoms such as cyanosis, heart-beat get rapid or fast, heart sounds gets irregular, would result in physician suspecting presence of heart defect. Only the presence of these symptoms would not be enough to identify the presence of CCHD condition. To identify the defect, the child’s physician would perform certain specific tests for confirmation of the diagnosis.

Chest X-Ray: This method of diagnosis helps to get a layout of the heart and the place of various arteries and veins. To get another photo of the heart, the physician of the child would demand an echocardiogram i.e. “Ultrasound of the heart.” This would provide more details as compared to the chest X-Ray.

Cardiac Catheterization is an invasive treatment, which is required to get an idea about the internal part of the heart. This test helps to insert a small tube or a catheter via the groin (area of hip between stomach and thigh) and arm inside the heart.

Using a Pulse Oximeter which helps to check the level of oxygen in the blood by using a test named arterial blood test or by examining via the skin.

Complete Blood Count (CBC) could be done

Magnetic Resonance Imagining (MRI) could be done to study and check the structure of the heart and blood vessels.

Treatment for Cyanotic Congenital Heart Diseases (CCHD)

The treatment for this condition might not depend compulsorily on the seriousness/acuteness of the symptoms. But in most of the cases, the physical defect of the heart necessarily needs to be rectified by conducting a surgery.

If the condition or defect is very serious, the performance of surgery needs to be done immediately after birth. If the condition is not that serious, the surgery could be detained/ held-back till the child grows old.

With the detainment/holding-back of the surgery, medicines or drugs would be given to treat the child. Medicines/ Drugs would help:
  • Remove excess fluids or water from the body
  • The upper part of the pumping needs to be improved
  • The blood vessels need to be opened
  • The irregular heart rhythm needs to be regulated

Complications due to Cyanotic Congenital Heart Defect (CCHD):

  • The rhythm of the heart is not normal and death occurs suddenly
  • Hypertension occurs in the “blood vessels of the lungs.”
  • Failure of the heart occurs
  • Heart gets infected
  • Stroke (This occurs due to decreased blood flow (oxygen and nutrients) to the brain.
  • Death

When to inform the doctor related to the above

Inform the physician if the baby is suffering from the below-mentioned options:

  • Skin or mucous membrane gets blue in the color
  • Problems in breathing
  • Pain in the chest or other pain
  • Dizzy feeling, fainting or palpitations of the heart
  • Problems in feeding or appetite reduces
  • Fever, nausea or vomiting
  • Eyes or face gets puffy or swollen
  • Fatigue all time

Preventive Tips

  • Pregnant women should get proper care at the prenatal stage.
  • Avoid consumption of alcohol and drugs at the time of pregnancy.
  • Before taking any medicines/drugs do inform the physician that you are pregnant.
  • Do get a blood test done at the initial stage of pregnancy to identify whether immune to rubella or no. If not immune to rubella, then avoid exposing to rubella and do immunize immediately after the birth of the child.
  • Sugars need to be controlled during the time of pregnancy.


The outlook for this condition among children differs depending on the seriousness of the underlying conditions. If the condition is mild and not severe, the child can lead a normal routine and lifestyle with minimum amount/ quantity of medicines/ drugs or any other treatments.

If the cases are too acute or severe, surgery might be required. For the best treatment of kids, the physician would work with you and discuss the plan of action or treatment of the child’s plan. They would discuss the child’s outlook and if any “further procedures are needed.”


  1. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC351661/
  2. https://link.springer.com/article/10.1007%2Fs12098-009-0030-4
  3. https://link.springer.com/article/10.1007%2Fs12098-017-2454-6

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