Cyanotic Congenital Heart Disease: Symptoms, Diagnosing

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Cyanotic congenital heart disease (CCHD) is a condition that is present at the time of birth. CCHD is a cause of low levels of oxygen in the blood.

Cyanotic Congenital Heart Disease
Cyanotic Congenital Heart Disease

Why cyanotic congenital heart disease Should Be Your First Focus? Let us know about CCHD first… cyanotic congenital heart disease (CCHD) is a condition that is present at the time of birth. CCHD is a cause of low levels of oxygen in the blood. A common symptom of this disease is a bluish tint on the skin which is known as cyanosis. 

Defects at the time of birth

Several defects at the time of birth can cause cyanotic heart disease, which includes-

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  1. An interruption in the largest artery in the body or aorta.
  2. Abnormalities in the large blood vessels lead to or from the heart.
  3. Issues with the heart valves These are the flaps in the heart that ensure that the flow of blood is in the right direction.

In many cases, if only one defect is present, there is no cyanosis. Often more than one defect is present in cyanotic congenital heart disease. Doctors are trained in using imaging tests to confirm the presence of defects that lead to cyanotic congenital heart disease. The testing includes chest X-rays and echocardiograms. Medication helps in relieving the symptoms of cyanosis. Unavoidably, most infants need to have surgery done to correct the defects caused by the disease. The success of the surgery depends on the lethality of the defects.

WHAT ARE THE RISK FACTORS FOR CYANOTIC CONGENITAL HEART DISEASE?

Mostly, The newborn is more at risk for cyanotic congenital heart disease if there’s a family history of congenital heart diseases. A genetic factor is mostly responsible for the infant being born with this defect. Some of the genetic syndromes can be accompanied by defects that cause CCHD. These include four syndromes:

  1. Down syndrome
  2. Turner syndrome
  3. Marfan’s syndrome
  4. Noonan syndrome

Sometimes outside factors can also cause this disease. Taking the example of a pregnant woman, if exposed to toxic chemicals or certain drugs, her infant may have a higher risk of developing heart defects. Infections during the time of pregnancy are also a factor. Appallingly controlled gestational diabetes also leads to a higher risk of the infant developing cyanotic congenital heart disease.

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DEFECTS ARE CAUSED BY CYANOTIC CONGENITAL HEART DISEASE

There are 4 cyanotic congenital heart disease defects which are Tetralogy of Fallot or TOF, Transposition of the Great Arteries or TGA, Tricuspid Atresia, and Total Anomalous Pulmonary Venous Connection or TAPVC. Let us know in detail about the defects below.

DEFECTS ARE CAUSED BY CYANOTIC CONGENITAL HEART DISEASE
DEFECTS ARE CAUSED BY CYANOTIC CONGENITAL HEART DISEASE

Tricuspid Atresia- 

Tricuspid Atresia is the condition in which the tricuspid heart valve has developed abnormally or is entirely missing. This causes disturbance to the normal blood flow and thus low-oxygen blood is pumped out to the body as a result.

Total Anomalous Pulmonary Venous Connection or TAPVC

The Total Anomalous Pulmonary Venous Connection phenomenon occurs when veins that bring high-oxygen blood from the lungs to the heart are connected to the right atrium rather than being connected to the left atrium. This defect may also be followed by a blockage that may also follow in these veins which are between the lungs and the heart.

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Tetralogy of Fallot or TOF

Tetralogy of Fallot is the most common explanation for a cyanotic congenital heart condition. It’s a combination of four different defects. Tetralogy of Fallot or TOF includes:

  • a hole between the left and right ventricles of the heart.
  • a narrow pulmonary valve.
  • a thickening of the right ventricle muscles.
  • a misplaced aortic valve.

TOF defect leads to the mixing of both oxygen-rich blood and oxygen meager blood which is further pumped throughout the body.

Transposition of the Great Arteries or TGA

Infants having TGA have the pulmonary and aortic valves switched positions with their arteries. This results in low-oxygen blood getting pumped out to the rest of the body through the aorta, the largest artery in the body but rather this blood should go to the lungs through the pulmonary artery.

What are the symptoms of cyanotic congenital heart disease?

The basic symptom of cyanotic congenital heart disease is cyanosis, which can be seen by the blue coloring of the skin. The common occurring area is the lips, toes, or fingers. Other common symptoms include difficulty breathing which especially can be seen after physical activity. Some infants also experience spells during which their oxygen levels are very low. As a result, they get nervous and anxious and thus exhibit blue skin, and may even hyperventilate. Other symptoms of CCHD depend on the exact physical defect like-

Symptoms of tricuspid atresia-

The symptoms of tricuspid atresia are Cyanosis, Tiredness, Shortness of breath, Difficulty feeding, Heavy sweating, Slow growth, and Chronic respiratory infections.

TAPVC symptoms without a blockage-

Shortness of breath, Chronic respiratory infections, and Slow growth.

TAPVC with a blockage-

Cyanosis, Rapid heartbeat, Rapid breathing, and Breathing difficulty, become very severe with time.

Symptoms of Tetralogy of Fallot-

Low birth weight, Cyanosis, Poor feeding, Clubbed, or rounded, large fingers, Delayed growth, and Rapid breathing.

Symptoms of Transposition of the Great Arteries-

Rapid heartbeat, Rapid breathing, Slow weight gain, and Heavy sweating.

DIAGNOSING CYANOTIC CONGENITAL HEART DISEASE

If you have symptoms such as cyanosis, rapid heartbeat, and abnormal heart sounds then contact a child’s doctor to suspect if any heart defects are present. The observation of these symptoms is not enough to make a diagnosis, though. To understand which defect is present, your child’s doctor will use respective tests to confirm a diagnosis.

What is the treatment for cyanotic congenital heart disease?

Treatment for cyanotic congenital heart disease may or may not be necessary depending on the lethality of the symptoms. In many cases, surgery is performed to correct the physical defects in the heart is eventually necessary. When the defect is very severe and life-threatening, the surgery may need to be performed soon after birth and sometimes more than one surgery is needed. If surgery is being delayed, a child may be given medications to treat the disease. The medications can help to eliminate extra fluids from the body, get the heart pumping better, keep blood vessels open, and regulate abnormal heart rhythms.

What is the treatment for cyanotic congenital heart disease_
What is the treatment for cyanotic congenital heart disease_

That’s Why cyanotic congenital heart disease should be your first focus! Read more interesting articles on our website.

Frequently Asked Questions (FAQs) about cyanotic congenital heart disease:

Q. What is Cyanotic Congenital Heart Disease?

Ans. Cyanotic congenital heart disease refers to a group of heart defects present at birth that lead to insufficient oxygen levels in the bloodstream. This often results in a bluish or cyanotic appearance of the skin and lips.

Q. What Causes Cyanotic Congenital Heart Disease?

Ans. The condition arises from abnormalities in the heart’s structure and function during fetal development. Genetic factors and certain prenatal conditions can contribute to its occurrence.

Q. What Are the Symptoms of Cyanotic Congenital Heart Disease?

Ans. Symptoms can include bluish skin (cyanosis), difficulty breathing, rapid breathing, poor growth, fatigue, and clubbing of fingers and toes. However, symptoms may vary depending on the specific heart defect.

Q. How Is Cyanotic Congenital Heart Disease Diagnosed?

Ans. Diagnosis involves physical exams, medical history review, and diagnostic tests like echocardiography, X-rays, and MRI. Accurate diagnosis is crucial for proper treatment planning.

Q. What Are the Treatment Options for Cyanotic Congenital Heart Disease?

Ans. Treatment varies based on the specific heart defect. It might involve medications, surgical interventions, or minimally invasive procedures. Early intervention is essential for improving long-term outcomes.

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Maja Zayeri
Maja Zayeri
Maja Zayeri, a prolific author and heart health expert, seamlessly blends her passion for writing with her extensive knowledge of cardiovascular wellness. He is committed to providing her patients with the highest quality of care and is passionate about educating people on the importance of heart health.

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