Cyanosis is a condition of congenital heart disease and it’s conditions, symptoms, and causes can be challenging to diagnose. However, diagnosis is crucial to treatment and relief. Here we will discuss the congenital heart disease, its symptoms, causes and treatments that are available.

Cyanotic Congenital Heart Disease: Symptoms, Causes, and Treatments

Cyanotic congenital heart disease is the term given to a group of cardiovascular conditions that are present at birth, also called congenital. Knowing how to identify these conditions is crucial for treatment of the defects.


This article aims to offer the knowledge of the symptoms of this type of heart disease as well as some of the known causes and treatments that are available. All heart disease is life-threatening, and in children, it can be a devastating discovery. With the treatments available the child can grow into a healthy adult and live a long and prosperous life.


What is Cyanotic Congenital Heart Disease?

Cyanotic is a term given to indicate a bluish color in the face, hands, and feet. Usually present in the mucous membranes, cyanosis can be a warning sign that blood flow or pressure is not correct.


Because the disease is congenital, meaning it happens at birth, or during embryonic development, most cases, though not all, are identified after birth or during delivery.


There are a few instances of the disease and how it progresses, however, the most common form is from low blood oxygen. The blood is pumped by the heart and pushed through the body. The blood moves oxygen around the body through the arteries and returns to the heart through the veins.


The blood passes through the lungs to replenish its source of oxygen before reaching the heart to be pumped through the body again.


In some cases, the infant will have a weak heart that doesn’t pump enough oxygenated blood through the body. In other cases, the walls of the heart are deformed or compromised, and the blue blood (low oxygen) is mixed with the red blood (high oxygen). In both cases, there isn’t enough oxygenated blood reaching all areas of the body.


This results in cyanosis, or a blue coloring of the extremities, mouth and even the nose and eyes.


There isn’t a single cause for this type of heart disease and can be attributed to at least half a dozen reasons. Some of the most common are:


  • Tetralogy
  • Ebstein anomaly
  • Arterial transposition
  • Aortic interruption


There are also cases where the mother’s condition will have a role in the developmental disabilities of the fetal heart. These can include:


  • Diabetic mothers with poor blood sugar control
  • Down syndrome
  • Illegal (or prescription) drug use
  • Infections during pregnancy

Symptoms of Cyanotic Congenital Heart Disease

The primary symptom of cyanotic congenital heart disease is the cyanosis, or blue coloring of the lips, nose, hands or feet. This can happen when the child is active or resting, though usually not both. Depending on what is wrong with the heart the blood will either be under-oxygenated or not.


If the hand’s feet or lips turn blue, you should call for emergency medical help right away. Though there are other symptoms and the child won’t always present with a blue coloring in their extremities.


After physical activity, the child may be extremely short of breath. It can be to the point where the child feels chest pains while trying to control their breathing. You may notice the child sitting, stooping or squatting after physical activity.


This condition can bring on its own symptoms as well. Because the child may not know or understand what is happening, panic, anxiety and hyperventilating may occur as well. You should be on the lookout for these signs along with shortness of breath.


In infants who may not get the physical activity of older children, you may notice them sweating while feeding or even fainting. Both of these are cause for alarm and should be diagnosed and checked by a doctor as soon as possible.


Because there are multiple types of the cyanotic heart disease, there are other symptoms you should be aware of based on the type of heart disease that is present.


The skin can appear gray or be constantly clammy. There may also be consistent fatigue, puffy or swollen eyes and possibly even a suppressed appetite resulting in growth deficiencies.


Older children, if the heart disease isn’t diagnosed and treated can develop clubbed fingers or toes, and the blue color can be present at all times.


If any of these symptoms occur have the child examined right away.


What Type of Testing Can Be Done

Doctors will need to perform a few different tests to confirm the diagnosis, though most cases of the cyanosis can be confirmed with a visual examination.


They will need to test the blood pressure and the oxygen levels of the blood as well., This can be done through blood draws and pulse oximeters. Complete blood tests will need to be performed to verify the type of cyanotic heart disease present.


X-rays and electrocardiograms (ECGs) are very common to assist in diagnosis. In some cases, cardiovascular catheterization is performed to place a small tube from the groin into the right or left valve of the heart.


Other tests may be administered as needed including MRIs and regular blood testing after various activities.


Treatments of Cyanotic Congenital Heart Disease

Treatment will depend on when the diagnosis is first determined. If the diagnosis is given at birth, the infant may stay in the hospital a few extra days. If the valves repair themselves, the child will be released from the hospital with regular weekly check-ups required until the diagnosis is reversed.


If the heart defects are severe and won’t heal with time, surgery may be performed. The type of surgery will need to be determined and when the surgery takes place is also dependent on the type of heart disease.


Some surgeries will need to be performed as soon as possible while others will be delayed for several years. In the meantime, medication may be administered to remove excess fluids, force the heart to beat harder or faster or even to alter the beating of the heart or to change the heart rhythm.


Because the condition is severe and surgeries at an early age can cause complications, you will need to follow all guidelines from the doctor. This may include altering the vaccine schedule, the use of antibiotics before having dental work done, or even having constant and regular check-ups performed.


There are some cases where the heart defect will be repaired over the course of several surgeries that can span over several years. This type of staggered surgery is not very common but can be highly effective.


Complications and Side Effects

As with any surgery, there are possible side effects or complications. The most common are abnormal heart rhythms that can be corrected with medications.


Other conditions include permanent high blood pressure in the lungs, infections in the heart, stroke or even death.


Everything will be properly discussed with you by the doctor and surgeons before any procedure is carried out. However, non-treatment is almost always fatal, depending on the type and severity of the heart disease.



While there is no guarantee of elimination of congenital heart disease, there are things the mother can do while pregnant to significantly reduce the chances.


The use of alcohol and drugs should be eliminated during the pregnancy.

Diabetic mothers should have their blood sugar under control and monitored closely at all times.

Inform any medical professional of the pregnancy before taking medications.

Proper prenatal care should be used from the moment the pregnancy is discovered, including prenatal vitamins, stress reduction, and pain management.


The mother should have blood tests done to look for immunity to rubella. If the mother is not immune, all efforts should be administered to prevent exposure and vaccination should occur directly after delivery.

In Conclusion

Cyanotic congenital heart disease may not be able to be completely prevented, though, with proper prenatal care, the chances are diminished greatly. Close monitoring should be done from birth until adolescence.


The symptoms are easily spotted and if noticed should be checked out by a doctor immediately. Blue coloration of the mucous membranes, hands, and feet while resting or after physical activity should be reported.


There may be other symptoms as well that should be checked out as soon as possible. Any skin discoloration, especially blue or gray could be a sign of cyanosis due to heart disease. Shortness of breath, hyperventilation and even fainting are all signs to be on the lookout for possible heart disease.


If suspected, heart disease is fairly easily diagnosed and confirmed, and there are treatments available. If could just take a few days to heal on its own if the heart disease is found during birth and is due to an underdeveloped heart.


Other cases will most likely require surgery and medications for treatment.

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