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How is congenital heart disease diagnosed?

Thanks to the development of technology, a congenital heart defect can now often be identified and detected through ultrasound during pregnancy, from a physical examination after birth, or because of the baby's symptoms. Some defects aren't discovered until adulthood, when your body places greater demands on your heart.


During pregnancy, if your health care team suspects that you or your baby may have a heart defect, you will be referred to a cardiologist or pediatric cardiologist. Your doctor will do more tests, a physical exam, and check:


Signs and Symptoms

  medical history

family history

  Test results

Tests may include:

Pulse oximetry - measures the oxygen in a child's blood through a sensor attached to his or her hand or foot.

  Cardiac catheterization

chest x-ray

Echocardiogram - can be done before the baby is born

Electrocardiogram (ECG .)  or EKG)

MRI of the heart (magnetic resonance imaging)

Genetic tests - These may be done if the health care team suspects that a heart defect is linked to an inherited condition.

Some babies may not be diagnosed until symptoms begin days, weeks, or months after birth. What symptoms may indicate an undiagnosed congenital heart defect?


Symptoms of the disease vary according to the severity of the congenital malformation of the heart and its impact on the functioning of the heart muscle. The following are some of the symptoms that a sick child may feel or show:

Fatigue and tiredness:

When making any effort, parents notice that their child cannot keep up with the rest of his colleagues when playing or practicing physical sports.

shortness of breath:

The child feels difficulty in breathing, especially when exerting effort, climbing stairs, or doing exercise, and parents may notice rapid breathing and fatigue.

Increased heart rate:

The child feels his heartbeat is strong and fast, and sometimes it is irregular, and the parents notice this also, especially when placing the hand on the child's chest.

bluish color:

Especially the lips, tongue and limbs, and this is usually in congenital heart defects accompanied by cyanosis.

Frequent chest infections:

An example of this is pneumonia and frequent wet cough with sputum.

Nail discoloration and swelling:

The nails are dented and enlarged and may resemble the shape of a drumstick.

Difficulty breastfeeding

You notice the infant taking a long time to eat, accompanied by excessive sweating, shortness of breath, and the inability to complete feeding.

poor growth:

Where the parents notice that the child's weight is not increasing in the normal required way.


for short periods.

Having an abnormal sound:

Or the so-called (snoring) or a murmur in the heart and is usually discovered when examining the child for any reason, and in many cases the sound is benign and goes away automatically.

Swollen body parts:

This is observed in cases of severe heart failure, due to the heart's inability to pump blood as required.

Chest pain and pallor.


If your child has any of these symptoms, seek medical help immediately.


Minor defects are often discovered at a child's routine health check-up appointments. Your pediatrician may notice a murmur that may indicate a congenital heart defect.


If a heart defect is suspected, an echocardiogram (ultrasound of the heart) will likely be recommended. An echocardiogram uses sound waves to create images of the heart's chambers, valves, and vessels. The cardiologist will evaluate how blood moves through the heart and measurements of the heart's structure can be taken.



In some cases, heart defects may remain undetected until adolescence or early adulthood. These cases often require prompt intervention due to the sudden onset of symptoms.

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