HomeHealth articlescyanotic congenital heart diseaseWhat Is Cyanotic Congenital Heart Disease?

Cyanotic Congenital Heart Disease- Causes, Symptoms, Diagnosis, and Treatment

Verified dataVerified data

3 min read


Cyanotic congenital heart disease is a heart defect present at birth that results in low blood oxygen levels. This article is an overview of cyanotic congenital heart disease.

Medically reviewed by

Dr. Prashant Valecha

Published At October 14, 2022
Reviewed AtJanuary 24, 2023


Cyanotic heart disease refers to a cluster of several cardiovascular defects seen at the time of birth. Since the imperfections are present at the time of delivery, it is referred to as a congenital defect or congenital disorder. The result of these conditions is a drastically low oxygen level in the blood. Cyanosis means a bluish discoloration of the skin as well as mucous membranes. In many cases of cyanotic congenital heart disease, there is an absence of cyanosis. Generally, there are additional defects in congenital cyanotic disease other than heart defects. Healthcare professionals use multiple imaging tests in order to confirm the presence of cyanotic congenital heart diseases, such as chest X-rays and echocardiograms. To some extent, medication may aid in relieving symptoms of cyanosis. Ultimately, the majority of infants need to undergo surgery to correct all the defects caused by the disease. The success of the surgery is highly dependent on several factors, such as the following,

  • The severity of the defect.

  • An interruption in the aorta.

  • Abnormalities in the large blood vessels of the cardiovascular system.

What Are the Causes of Cyanotic Congenital Heart Disease?

In standard cases, blood returns from the body and smoothly flows all through the heart and the lungs. This flow is altered in children and adults suffering from cyanotic congenital heart disease leading to less flow of blood to the lungs as well as the heart. It may eventually result in the mixing of pure or oxygenated blood with impure or deoxygenated blood. There are several reasons that lead to cyanotic congenital heart disease development.

Mentioned below are some of the causes of cyanotic congenital heart disease.

  • Less oxygen is delivered to the body.

  • Absence of the tricuspid valve.

  • Malfunctioning of the tricuspid valve.

  • Lack of the pulmonary valve.

  • Malfunctioning of the pulmonary valve.

  • Absence of aortic valve.

  • Malfunctioning of the aortic valve.

  • Complete interruption of the aorta or coarctation.

  • Ebstein anomaly.

  • Hypoplastic left heart syndrome.

  • Tetralogy of Fallot.

  • Total anomalous pulmonary venous return.

  • Transposition of the great arteries.

  • Truncus arteriosus.

  • Chemical exposure.

  • Genetic and chromosomal syndromes.

  • Down syndrome.

  • Trisomy 13.

  • Turner syndrome.

  • Marfan syndrome.

  • Noonan syndrome

  • Infections during pregnancy.

  • Rubella syndrome.

  • Diabetes Mellitus is not managed during pregnancy.

  • Drugs overdose

What Are the Signs and Symptoms of Cyanotic Congenital Heart Disease?

One of the classic signs and symptoms of cyanotic congenital heart disease is bluish discoloration of the skin and membrane, also called cyanosis. This generally affects the lips, toes, or fingers. Another common clinical manifestation is a great difficulty in breathing. Mentioned below are some of the common signs and symptoms of cyanotic congenital heart disease.

  • Rapid heartbeat.

  • Rapid breathing.

  • Breathing difficulty, becoming very severe with time.

  • Chronic respiratory infections.

  • Hyperventilation.

  • Anxiety.

  • Drastically low oxygen levels.

  • Tiredness.

  • Shortness of breath.

  • Difficulty feeding.

  • Slow growth.

  • Chronic respiratory infections.

  • Slow weight gain.

  • Heavy sweating.

  • Low birth weight.

  • Clubbed, or rounded, large fingers.

  • Delayed growth.

  • No cognitive development.

  • Abnormal heart rhythm.

  • Abnormal heart murmurs.

How to Diagnose Cyanotic Congenital Heart Disease?

Early diagnosis is critical in cyanotic congenital heart disease. Cyanosis, rapid heartbeat, abnormal heart sounds, and other clinical manifestations may lead to several complications if not treated.

Mentioned below are some of the diagnostic tools that may help evaluate cyanotic congenital heart disease.

  • Chest X-ray.

  • Electrocardiogram.

  • Ultrasound of the heart.

  • Cardiac catheterization.

How to Treat Cyanotic Congenital Heart Disease?

The treatment for cyanotic congenital heart disease depends on the severity and onset of the symptoms and the risks and complications they pose to the patient. In the majority of the cases, surgical intervention in order to correct the present defects in the cardiovascular system is necessary. Such surgeries have proven to be successful to a great extent. Surgical intervention is not delayed in case the deficiency is severe in nature. In other instances, the surgery can be postponed until the child is older. There are occasions when more than one kind of surgery may be required in order to completely correct the defects produced by cyanotic congenital heart disease. Mentioned below are some of the necessary goals of any treatment modality given forward for cyanotic congenital heart disease.

  • Eliminate excessive fluid accumulation from the body.

  • Get the heart pumping and functioning better.

  • Keep all the blood vessels open.

  • Regulate abnormal heart rhythms.


Cyanotic congenital heart disease is a disorder that results in bluish discoloration of the skin and mucous membrane. It affects both children and adults but is primarily seen in children. The outlook and prognosis of cyanotic congenital heart disease vary because it is dependent on the severity of the underlying defects and clinical manifestation of the disease. It also is based on how quickly the diagnosis and treatment occur. In mild cases of cyanotic congenital heart disease, the individual is able to continue living a normal lifestyle.

Frequently Asked Questions


What Type of Cyanotic Congenital Heart Disease Is Most Common?

Fallot’s tetralogy is the most common type of cyanotic congenital heart disease. It is seen in 50 percent of all cases of cyanotic heart disease. However, in some babies, it is not apparent immediately after birth. Those babies with this heart defect are more cyanotic in the newborn period.


What Are the Types of Cyanotic Heart Defects?

A cyanotic congenital heart defect is classified into three types of lesions: right obstructive, left obstructive, and mixed. The five types of cyanotic heart defects are tetralogy of Fallot, total anomalous pulmonary venous connection, truncus and tricuspid valve abnormalities, and transposition of the great arteries.


What Types of Congenital Heart Defects Are More Critical?

Critical congenital heart defect refers to a group of congenital heart defects that require surgical or catheterization during the first year of life. It includes tetralogy of Fallot, pulmonary atresia, coarctation of the aorta, tricuspid atresia, d-transposition of the great arteries, total anomalous pulmonary venous return, hypoplastic left heart syndrome, and truncus arteriosus.


How Is Congenital Heart Disease Diagnosed?

Congenital heart disease is usually diagnosed during a routine ultrasound during pregnancy. Fetal echocardiography is a specialized ultrasound performed at 18 to 22 weeks of gestation to confirm the diagnosis. It determines the congenital defect of the fetal heart inside the womb.


Can Congenital Heart Disease Be Cured?

Cyanotic congenital heart defects cannot be cured. The congenital defects are usually repaired with surgical procedures. Surgery is usually staged as the child grows. Though heart defects are repaired surgically, heart problems can occur at any life stage as the person ages. 


Can Congenital Heart Disease Result in Death?

Congenital heart diseases are present from birth and affect the functioning of the heart. Congenital heart disease can cause life-threatening complications, including death. Individuals with this disease show improved survival rates due to advancements in diagnosis and treatment.


What Is the Oxygen Saturation in Patients With Cyanotic Heart Disease?

Oxygen saturation examination is critical in patients with cyanotic heart disease. In patients with congenital cyanotic heart disease, transcutaneous oxygen saturation ranges from 71 to 79 %. The upper limit in this range is considered adequate, whereas the lower end requires clinical intervention.


Can Patients With Cyanotic Heart Disease Live a Long Life?

Though congenital heart disease cannot be cured, advancements in diagnosis and treatment procedures have improved the survival of babies and children with congenital heart defects. Individuals with this defect can live a long and healthy life with appropriate medical care.


What Is the Treatment for Congenital Heart Disease?

The management procedures for cyanotic congenital heart disease depend on the type of defect. Severe defects require surgery to repair the defect or catheterization, in which a thin tube is inserted into the heart via an artery and monitored throughout adult life by a doctor specializing in congenital heart disease.


What Type of Heart Defect Causes a Blue Baby?

The oxygen saturation is less than normal in cyanotic heart defects. This results in cyanosis, a condition in which bluish discoloration of the skin, lips, fingers, and toes occurs. Infants with bluish discoloration are often referred to as blue babies. It may occur during the resting or active hours of the child.


What Is the Common Cause of Blue Baby Syndrome?

The common cause of blue baby syndrome is consuming water contaminated with nitrates. Nitrates get converted into nitrites and bind to the hemoglobin in the body, forming methemoglobin, which cannot carry oxygen. This results in low oxygen saturation, further leading to blue baby syndrome.


Can an ECG Diagnose Heart Defects?

An ECG can detect an enlarged heart, heart defects, and other cardiac problems. It can also detect changes in the structure of the heart. An ECG performed in the presence of symptoms can help diagnose reduced blood flow to the heart muscles, causing chest pain.


Is Congenital Heart Disease a Serious Condition?

Some congenital heart diseases are not severe. Some defects are complex and cause life-threatening complications, like death. Critical congenital heart defects require intervention within the first year of life. However, with advancements in diagnosis and treatment, survival rates have improved.
Source Article IclonSourcesSource Article Arrow
Dr. Prashant Valecha
Dr. Prashant Valecha



cyanotic congenital heart disease
Community Banner Mobile
By subscribing, I agree to iCliniq's Terms & Privacy Policy.

Source Article ArrowMost popular articles

Do you have a question on

cyanotic congenital heart disease

Ask a doctor online

*guaranteed answer within 4 hours

Disclaimer: No content published on this website is intended to be a substitute for professional medical diagnosis, advice or treatment by a trained physician. Seek advice from your physician or other qualified healthcare providers with questions you may have regarding your symptoms and medical condition for a complete medical diagnosis. Do not delay or disregard seeking professional medical advice because of something you have read on this website. Read our Editorial Process to know how we create content for health articles and queries.

This website uses cookies to ensure you get the best experience on our website. iCliniq privacy policy