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Cyanotic Heart Disease: Symptoms, Types, and Treatment

Medically reviewed by Mae Charisse Antalan, MD · General Practitioner

Written by Lorraine Bunag, R.N. · Updated Aug 30, 2022

    Cyanotic Heart Disease: Symptoms, Types, and Treatment

    Cyanotic Heart Disease doesn’t just pertain to a single cardiac ailment. In fact, it refers to a group of heart defects present at birth (congenital) that decreases the amount of oxygen in the blood. It also causes poor oxygen delivery to the rest of the body. Learn more about cyanotic heart disease here. 

    Why It’s Called Cyanotic Heart Disease

    When you hear someone say that a patient is cyanotic, that means their skin or mucous membranes developed a bluish or purplish discoloration. It is more noticeable on the parts of the body that are usually pinkish, such as the fingernails or the lips. This condition, called cyanosis, occurs because of low oxygen levels. 

    We call it cyanotic heart disease because the defect’s main symptom is cyanosis. However, it also comes by another name, which is critical congenital heart disease or CCHD. 

    Please take into consideration that the level of cyanosis depends on how low the oxygen level is. If it only drops a little, it may be hard to detect cyanosis. 

    Signs and Symptoms of CCHD

    While the main symptom of a cyanotic heart disease is cyanosis, it may also present with the following:

    • Tachycardia (fast heart rate or pulse)
    • Tachypnea (fast respiratory rate)
    • Dyspnea (difficulty breathing)
    • Lack of energy
    • Low level of oxygen in the body
    • Trouble breathing when exercising 
    • Heart murmur, the whooshing sound you hear through the stethoscope when the heart beats 
    • Pulmonary edema or fluid in the lungs 


    Since the disease is present at birth, parents may notice the signs and symptoms in their baby right away. A baby may also be irritable or sweating and crying during feeding. Young kids may squat during physical activity, too, because it helps relieve difficulty breathing. 

    Causes and Types of Cyanotic Heart Disease

    The exact cause of CCHD is still unknown, but experts believe it’s linked to genetics and abnormal chromosomes. Other contributing factors include illnesses of the mother during pregnancy, such as phenylketonuria, diabetes, or a viral infection. Drug use may also increase the risk for cyanotic heart disease. 

    Like mentioned earlier, CCHD refers to a group of heart defects. These heart defects can be categorized into:

    Left Heart Obstructive Lesions

    Defects under this category affect the blood flow between the heart and the rest of the body (systemic flow). Specific conditions include Interrupted Aortic Arch and Hypoplastic Left Heart Syndrome. 

    Right Heart Obstructive Lesions

    This affects the blood flow between the lungs and heart (pulmonary flow). A condition under this category is Tetralogy of Fallot, which is the most common CCHD. Tetralogy of Fallot involves 4 heart defects. 

    Mixing Lesions

    Mixing lesions means the defect mixes the pulmonary and systemic flows. Examples of this kind of CCHD are Truncus Arteriosus and Transposition of the great arteries.  

    Management and Treatment for Cyanotic Heart Disease

    Treatment for CCHD may begin soon after birth, and the treatment of choice is usually surgery to correct the heart defect. 

    Of course, it’s also possible to wait for months or even years before any surgical operation takes place. Some surgeries are also staged as the child grows. 

    As for management, the child or adult may receive medicines to help get rid of fluid in lungs, assist the heart in pumping more effectively, and treat arrhythmia. 

    Patients and parents of children with CCHD need to work closely with the doctor to manage the condition. They may need special instructions for immunization or medical procedures, like dental work. 

    Key Takeaways

    Cyanotic heart disease or critical congenital heart disease refers to a group of heart diseases that reduces the amount of oxygen the body receives. The main symptom is cyanosis or the bluish or purplish discoloration of the skin and mucous membranes. The treatment of choice for most congenital heart diseases is surgery to correct the defect.

    Learn more about Heart Health here


    Hello Health Group does not provide medical advice, diagnosis or treatment.

    Medically reviewed by

    Mae Charisse Antalan, MD

    General Practitioner

    Written by Lorraine Bunag, R.N. · Updated Aug 30, 2022

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