Diagnosing congenital heart defects (CHDs) early is very important for lifelong health. CHDs are problems with the heart that babies are born with. Finding these problems early enables healthcare providers to develop the right treatment plans.
Learning how these heart defects are diagnosed can help in making informed decisions and supporting overall health.
Congenital heart defects (CHDs) are often diagnosed during pregnancy. However, a diagnosis may sometimes only be confirmed after a baby is born or even later in life.
There are a few different methods used to diagnose heart defects during pregnancy:
This is the most common tool for diagnosing CHDs. A routine ultrasound around 18 to 22 weeks of pregnancy can sometimes find heart defects. During the exam, the technician checks the baby’s heart for any problems with its size, shape or structure.
If a CHD is suspected, a more detailed test called a fetal echocardiogram is performed. This test uses sound waves to create a detailed picture of the baby’s heart. It can help health care specialists see how the heart is forming and working.
Sometimes, heart defects are linked to genetic conditions. Specialists may recommend tests like amniocentesis or chorionic villus sampling to check for genetic issues.
Non-invasive prenatal testing (NIPT) is a blood test that can find certain genetic conditions that might be related to CHDs. However, blood and genetic tests alone cannot diagnose a heart defect. They only signal the need for further testing.
If a CHD isn’t detected before birth, it can often be diagnosed after the baby is born or even later in life. There are several methods used to identify heart defects in newborns and infants, children or adults:
Right after birth, a health care specialist examines the baby for any signs of health problems. They use a stethoscope to listen for unusual heart sounds, like a heart murmur. They also check for signs like bluish skin (cyanosis) or difficulty breathing.
Pulse oximetry is a simple, painless test that measures how much oxygen is in a person’s blood. A sensor is placed on the skin, usually on a hand or foot, to take a reading. Low oxygen levels can be a sign of a heart defect.
This test is similar to an ultrasound and checks the inside of the heart. It helps specialists see how the heart is working and find problems. An echocardiogram is important for diagnosing CHDs and planning treatment. It is non-invasive and can be performed on newborns, infants, older children and adults.
If initial tests suggest a CHD, specialists may perform more tests to confirm the diagnosis and plan treatment.
Here are some common follow-up tests to diagnose a congenital heart defect:
An ECG measures the electrical activity of the heart. It can help specialists find irregular heart rhythms and other issues related to CHDs. Small sensors are placed on the chest, arms and legs to take readings.
A chest X-ray provides an image of the heart, lungs and chest bones. It helps specialists see the size and shape of the heart. This test can also show if there is fluid in the lungs, which sometimes happens with a heart defect.
A cardiac MRI uses powerful magnets and radio waves to take clear pictures of the heart. This scan provides more information about the heart’s structure and function than an echocardiogram. It is especially useful for complex heart defects.
Cardiac MRIs can look at blood flow to and from the heart. They can also measure the size of the heart’s chambers and major blood vessels. MRIs can detect signs of infection, tumors or other heart conditions.
In this more invasive test, a thin tube (catheter) is inserted into a blood vessel and guided to the heart. This test allows specialists to see inside the heart and measure pressure and oxygen levels. It also helps plan surgical or other treatments.
A CT scan uses X-rays to take detailed pictures of the heart and blood vessels. It provides more information about the heart’s structure and function. This test is useful for diagnosing complex heart defects.
Health care specialists can use 3D printing to help diagnose and treat heart problems. This technology lets you and your family hold a physical model of the heart. The model is made from a CT or MRI scan. It helps specialists understand the heart condition better and decide the best treatment.
Once a heart defect is diagnosed, your health care provider will discuss the findings with you. They will explain the type of defect, its severity and the possible treatments.
Treatments for CHDs can vary, depending on the type of defect and overall health. Some common treatments include:
Medications: Medicines can help manage symptoms and improve heart function. They may be used to treat high blood pressure, control irregular heartbeats or reduce fluid buildup.
Surgery: Surgery may be necessary to repair the heart defect. The type of surgery depends on the defect. Some common procedures include closing holes in the heart, repairing or replacing valves and widening blood vessels.
Interventional procedures: Some CHDs can be treated with less invasive procedures than surgery. These procedures, like balloon angioplasty or stent placement, are often performed during cardiac catheterization.
People with CHDs, both children and adults, may require lifelong care. Regular check-ups with a pediatric or adult cardiologist are important to monitor heart health and look for any problems. With proper care and treatment, many people with CHDs can lead healthy and active lives.
Learn more about treatment and living with a congenital heart defect.
Our heart specialists at Banner Health are experts in diagnosing and treating a variety of congenital heart defects, from the most common to the very rare. We tailor our care plans to each patient's unique needs, ensuring they receive the best possible treatment.
Schedule an appointment today with one of our specialists.
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