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What is a Congenital Heart Defect and How is it Diagnosed?

Congenital Heart Defects

Congenital heart defect or disease is a general term for various birth disorders that affect the normal functioning of the heart. The word “congenital” signifies that the condition is present from birth; it is another way of saying someone’s heart had a problem at birth.

For example, the heart may have had a small hole or something more serious. Although these conditions could be severe, specialized physicians can treat many of them with surgery. They may sometimes find these problems before the baby is born. Sometimes, they diagnose the individual in infancy or when that person is an adult.

However, if you or your newborn has a congenital heart defect, both may not have symptoms until adulthood or not have them at all. According to various British statistics, congenital heart defect is one of the most common congenital anomalies and affects about one in one hundred babies.

Congenital Heart Defect

A congenital heart defect is a common disorder in the heart’s development and structure, ranging from mild to severe. Suppose it affects valves, blood vessels, walls, veins, and heart arteries, disrupting blood flow. As a result, blood may flow slowly or in the wrong direction, leading to severe complications.

As reported by the U. S. Center for Disease Control and Prevention, about one million adults and children currently have congenital heart defects in the United States. Treatment, ongoing follow-up, and care may help children live longer, more productive lives.

The survival rate for children depends primarily on the severity of the defect, and survival rates improve due to increased and more advanced medical care, technologies, and preventive measures.

These measures include fetal intervention, diagnosis, advanced neonatal surgeries for complex or severe congenital heart defects, and postoperative intervention as the child develops and grows.

Specialized physicians perform cardiac tests to diagnose whether or not the child has the defect and requires treatment. Specialists usually diagnose severe defects during pregnancy or after the child is born.

The treatment plan for the patient includes medications or surgery and catheter procedures depending on the severity of the defect, age, size, and the patient’s overall physical health.

Congenital Heart Defect Causes

In most cases, physicians have not identified an apparent only cause of congenital heart defects. However, experts have found things and circumstances that increase the risk of the condition, including:


Several genetic health conditions a baby inherits from one or both parents may cause congenital heart defects. In addition, certain types of these genetic heart diseases may run in families.

  • Down’s syndrome is a genetic disorder that impacts the baby’s normal physical development and causes learning difficulties. This condition is what most people know as the one that may cause congenital heart defects. Approximately half of the children with Down’s syndrome have a congenital heart defect.
  • Phenylketonuria (PKU) is a rare genetic condition present from birth; the body cannot break down a chemical, phenylalanine, which builds up in the blood and brain, causing learning and behavioral difficulties. Pregnant women with PKU who do not follow a low-protein diet and supplement intake are more likely to give birth to a baby with a congenital heart defect than the general population.


When the future mother drinks too much alcohol during pregnancy, it can poison fetal tissue, provoking fetal alcohol spectrum disorder. Also, smoking or using drugs during pregnancy can lead to congenital heart defects and other problems with the baby’s growth. Therefore, it is advisable to avoid all if you are pregnant.


Women having diabetes are at an increased risk of giving birth to a baby with a congenital heart defect than women who do not have diabetes. Specialists think that the increased risk is due to high levels of the hormone insulin in the blood, which may interfere with normal fetal development (the early stages of the baby’s growth in the womb).


A virus causes rubella which is an infectious condition. It usually is not a severe infection for adults or children. Still, it can severely affect a fetus if the mother develops a rubella infection during the first eight to ten weeks of pregnancy.

A rubella infection may cause multiple birth dysfunctions, including congenital heart defects. Therefore, all women of childbearing should vaccinate against rubella before getting pregnant.


Women with the flu during the first three months of pregnancy are at a higher risk of having a newborn with a congenital heart defect than the general population. The reasons for this happening are not clear. However, doctors recommend flu vaccination for all pregnant women.


Physicians associate numerous medications with an increased risk of a baby born with a congenital heart defect. These medicines may include:

  • Specific anti-seizure drugs, such as benzodiazepines (diazepam)
  • Some statins and acne medications, such as isotretinoin and topical retinoids.
  • Women taking pain reliever ibuprofen when they are thirty or more weeks pregnant have an elevated risk of having a newborn with a heart issue.
  • Acetaminophen is a safer alternative to ibuprofen during pregnancy, although it is best to avoid taking any medicine during pregnancy, especially during the first three months.


Pregnant women exposed to some organic solvents may be more likely to give birth to a baby with a congenital heart defect than the general population.

Organic solvents are chemicals in various products and substances, such as paints, nail polishes, and glues.

Congenital Heart Defect Diagnosis

Doctors often diagnose a congenital heart defect in a baby during pregnancy. However, sometimes they can only confirm the diagnosis after birth.


Physicians may initially suspect a congenital heart defect during a routine ultrasound of the baby in the womb. Then, they will perform a specialized ultrasound (fetal echocardiography) around eighteen to twenty-two weeks of pregnancy to confirm the exact diagnosis.

Physicians may also perform it if there is a family history of a congenital heart defect or when there is an increased risk. Echocardiography is a type of ultrasound in which specialists use high-frequency sound waves to create an image of the heart.

However, it is not always possible to spot heart defects, particularly mild ones, by fetal echocardiography.


It is feasible to diagnose a baby with a congenital heart defect soon after birth if some of the characteristic symptoms or signs of a congenital heart defect, such as a bluish coloring to the skin or lips (cyanosis), are present.

The specialist will check your baby’s heart as part of the newborn physical exam. The exam involves:

  • Looking at your baby
  • Feeling your baby’s pulse
  • Listening to your baby’s heart with a stethoscope; sometimes, your physician can detect heart murmurs.

However, some defects do not cause noticeable symptoms for several months or even years. You should consult the physician if your child shows signs of the condition. Additional tests may usually help confirm or rule out a diagnosis.

Additional Tests To Diagnose Congenital Heart Defects


Physicians often use an echocardiogram to check the inside of the heart. In addition, physicians may sometimes detect heart problems missed during fetal echocardiography as the child grows.


An ECG (electrocardiogram) is a screening that records the heart’s electrical activity. A specialist will place adhesive sensors (electrodes) on your arms, legs, and chest and then connect the electrodes with wires to an ECG recording machine. The machine will display the heart’s electrical signals and how well it beats.


Specialists may use a chest x-ray of the heart and lungs to check if there is excessive blood in the lungs or if the heart is more prominent than average. Both situations may be signs of a heart defect.


Pulse oximetry is a test that shows the amount of oxygen in the blood. The test involves placing a particular sensor on your fingertip, toe, or ear that sends light waves. A computer connects to the sensor and measures the absorption of the light waves.

The computer may quickly determine the amount of oxygen present in the blood by analyzing the results of how oxygen affected the absorption of the light waves.


Cardiac catheterization is a helpful way to learn more about pumping blood through the heart.

During the procedure, physicians insert a small, flexible tube (catheter) into a blood vessel, usually through a vein or artery in the neck, groin, or arm. Then, they move the catheter into the heart, guided by x-rays or an MRI scanner, allowing it to take pressure measurements in different parts of the heart or lungs.

They may also inject a colored dye (an angiogram) that shows up on x-rays into the catheter. Doctors may study the dye as it moves through the heart, allowing them to evaluate the shape and function of each chamber of the heart, vessels, and lungs.

Growing Up With A Congenital Heart Defect

You will have many concerns and questions if your infant has a congenital heart defect. However, remember that many children grow up with these conditions and live long healthy lives.

To be informed is crucial to your peace of mind and act when necessary, so if you have any doubts, please do not hesitate to call us.

At Modern Heart and Vascular, we are committed to placing our patients first and providing all the answers to your questions about heart health and heart conditions. We are accepting most major insurance companies, including Medicare. Some appointments are available.

We are Modern Heart and Vascular Institute, a diagnostic and preventative medicine cardiology practice. For more information, contact us.

Every heart has a story… What’s yours?

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Modern Heart and Vascular, a preventive cardiology medical practice, has several offices around Houston. We have locations in Humble, Cleveland, The Woodlands, Katy, and Livingston.

We are Modern Heart and Vascular Institute, a diagnostic and preventative medicine cardiology practice.

Every heart has a story… What’s yours?

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At the Modern Heart and Vascular Institute, we offer state-of-the-art cardiovascular care with innovative diagnostic tools and compassionate patient care. Our priority at Modern Heart and Vascular Institute is prevention. We help patients lead healthier lives by avoiding unnecessary procedures and surgeries.

Contact us online to learn more and book an appointment. If you’d like to learn more about our practice, read our providers’ bios.

This article does not provide medical advice. It is intended for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment. If you need cardiovascular care, please call us at 832-644-8930.

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