Congenital Heart Defect

A congenital heart defect (CHD) is a structural problem of the heart or blood vessels that is present at birth. These structural defects occur when the heart or blood vessels don’t form properly during fetal development. CHDs are the most common type of birth defect, affecting nearly 1 out of every 100 children born.

Defects to the heart or blood vessels can affect heart function and blood flow. Some defects are minor and may not require any treatment, while more serious defects often require surgery. Thanks to advances in medical treatment, children with heart defects often live long and healthy lives.

Congenital Heart Defect Causes and Risk Factors

Most congenital heart defects do not have a known cause. However, researchers have identified some potential risk factors. These risk factors include:

  • Genetics: Mutations (changes) to genes cause some congenital heart defects. A child may inherit a mutation from a parent, or the mutation may occur spontaneously. If either parent has an inherited mutation for a CHD, they should talk to a genetic counselor about the potential risk to their baby.
  • Mother’s health: Certain medical conditions during pregnancy, such as diabetes, lupus or obesity, increase the risk of your baby developing a CHD.
  • Medication: Taking some medications during pregnancy increases the risk of your baby developing a CHD. These medications include ACE inhibitors, lithium, statins and thalidomide. Talk to your doctor about any medications you take. Do not stop taking them without talking to your doctor, though.
  • Smoking and drinking: Smoking or drinking alcohol immediately before or during pregnancy may increase your baby’s risk of developing a CHD.

Congenital Heart Defect Symptoms

Symptoms vary depending on the type of congenital heart defect. Some mild CHDs have no symptoms. Others may cause symptoms such as:

  • Cyanosis: Lack of oxygen, which is visible in the skin, lips or nails— appearing blueish on pale skin and greyish on dark skin
  • Breathing difficulties: Rapid or labored breathing
  • Feeding problems: Trouble eating, fatigue after eating or poor weight gain

Congenital Heart Defect Types

There are several types of CHDs where some defects are so severe that they require surgery within the first 30 days of life.

Septal defects

A healthy heart has four chambers: two atria that receive blood and two ventricles that pump blood out. The septum (heart wall) separates the left and right sides of the heart. A septal defect means the heart wall doesn’t fully separate the left and right sides. Septal defects include:

  • Atrial septal defect (ASD): A hole in the septum between the two atria allows oxygen-rich blood to mix with oxygen-poor blood.
  • Ventricular septal defect (VSD): A hole in the septum between the two ventricles allows oxygen-rich blood to mix with oxygen-poor blood.

Valve defects

Valves are like doors that open and close to control blood flow. The heart has four valves:

  • Aortic (controls blood flow from the heart to the body)
  • Mitral (controls blood flow from the left atrium to the right atrium)
  • Pulmonary (controls blood flow from the heart into the lungs)
  • Tricuspid (controls blood flow from the right atrium to the right ventricle)

Malformed or missing valves make it harder for the heart to pump effectively. Some common valve defects include:

  • Aortic valve stenosis (AVS): When the aortic valve narrows (stenosis) or doesn’t close properly.
  • Ebstein’s anomaly: The tricuspid valve is in the wrong position, and its flaps aren’t shaped correctly.
  • Pulmonary valve stenosis (PS): The pulmonary valve is thickened and doesn’t open fully.
  • Mitral valve stenosis (MS): The mitral valve is too tight to allow for normal blood flow.
  • Mitral valve regurgitation (MR): The mitral valve allows blood to leak back towards the lung instead of forcing blood to flow to the body when the heart pumps.

Vessel defects

Blood vessel defects affect their structure or location. These defects include conditions like:

  • Coarctation of the aorta (CoA): A narrow aorta (the largest artery in the body) blocks blood flow and increases blood pressure in the heart.
  • Aortic Arch Hypoplasia: The aorta is more severely narrowed throughout its entire course which prevents the body from receiving enough blood flow.
  • Interrupted Aortic Arch: The aorta becomes separated into two parts that no longer communicate. Children born with this condition require special medical care to keep blood flowing to their body.
  • Transposition of the great arteries: The pulmonary artery carries blood to the lungs to get oxygen. The aorta pumps oxygenated blood to the body. When these arteries are reversed, the body does not receive any oxygenated blood.
  • Vascular ring: When the aorta doesn’t develop properly, it can form a ring around the trachea (windpipe) and esophagus. The ring may constrict these tubes, causing breathing and feeding difficulties.
  • Pulmonary Artery Sling: Sometimes the arteries that flow to the lungs fail to form appropriately. This can cause them to pass around the trachea and narrow it.

Combined defects

Some CHDs affect multiple parts of the heart or vessels. These defects include diagnoses like:

  • Atrioventricular septal defect (AVSD): Holes are present between the right and left sides of the heart. The valves between the upper and lower chambers also may not form correctly. These defects cause blood to flow where it shouldn’t go and make it harder for the lungs to oxygenate blood.
  • Single ventricle defects: The heart doesn’t form properly. Some parts of the heart are too small or missing altogether.
  • Heterotaxy Syndrome: During development, the signals that help differentiate the right side of the body from the left fail to work. The result is Heterotaxy syndrome which can impact the side and function of multiple organ systems including the heart, liver, spleen, and lungs.
  • Tetralogy of Fallot: Four defects are present at once—ventricular septal defect, obstruction from the heart to the lungs, misplaced aorta and thickened heart muscle.
  • Pulmonary Atresia with Ventricular Septal Defect (PAVSD): This defect is similar to Tetralogy of Fallot but with one important difference is that the pulmonary valve fails to form and the body attempts to repair this problem by forming large arteries that connect the aorta to the lungs to supply blood flow.
  • Pulmonary Atresia with Intact Ventricular Septum (PAIVS): The pulmonary valve has failed to form but there is no communication between the ventricles. Patients born with this condition have varying sizes of the right side of their heart.
  • Total anomalous pulmonary venous return (TAPVR): The veins from the lungs to the heart don’t connect in the right places. These improper connections cause oxygenated blood to leak or enter the wrong chamber of the heart.
  • Partial Anomalous Pulmonary Venous Return (PAPVR): Similar to TAPVR, but only a few of the veins returning from the lungs have failed to connect to the heart.
  • Double Outlet Right Ventricle (DORV): The large vessels on top of the heart do not connect to the appropriate pumping chamber. As a result, both vessels come off the right ventricle and an associated VSD allows blood to pass back and forth.
  • Interrupted Aortic Arch with Ventricular Septal Defect: A combination of a vessel and septal defects, this condition results in a varying spectrum of clinical conditions. Each of them requires intervention during the newborn period.

Congenital Heart Defect Diagnosis

A doctor may diagnose your child with a CHD before or after birth. Some children don’t find out about mild CHDs until later in childhood or adulthood. Doctors often diagnose a CCHD during pregnancy or infancy.

The doctor starts the process by getting a family medical history and performing a physical exam. Children may then undergo diagnostic tests including:

  • Genetic Profiling: Our cardiogenomics team cares for children who have heart conditions that are inherited or passed down through families. Cardiogenomics is a medical field that combines cardiology and medical genetics. We give families a deep understanding of inherited heart conditions so they can make the right decisions for their care. We also customize a comprehensive treatment plan for each child. Our care ensures children with these conditions can have the highest possible quality of life. Learn more about cardiogenomics.
  • Echocardiogram: The doctor uses a special type of ultrasound to look at your child’s heart. Echocardiograms can show heart structure and function. The doctor may use a fetal echocardiogram to diagnose a CHD during pregnancy. Learn more about echocardiograms.
  • Electrocardiogram (EKG): This painless test records the heart’s electrical activity. An EKG can show your child’s heart rate and heart rhythm. Read about electrocardiograms.
  • Pulse oximetry: The doctor places a monitor on your child’s skin to measure how much oxygen is in your child’s blood. This monitor can help show if the heart isn’t circulating enough oxygenated blood to the body.
  • Chest X-ray: Chest X-rays use electromagnetic waves to create images of your child’s heart and lungs. These images can show the size, shape and location of the heart. Learn about chest X-rays.
  • Newborn screening: Standard newborn screenings include a physical exam and blood tests that look for some signs and symptoms that may indicate underlying CHDs.
  • Cardiac MRI: A cardiac MRI is a noninvasive test that gives doctors a detailed picture of your child’s heart and the surrounding structures. Learn more about cardiac MRI.
  • Cardiac CT Scan: Computed tomography (CT) scans show more detail than X-rays. Doctors use chest CTs to look at your child’s heart, lungs, soft tissue and surrounding structures. Learn more about cardiac CT scans.

Congenital Heart Defect Treatment

Treatment for congenital heart defects varies depending on the type and severity of the defect. Mild defects may not need treatment. Treatment options include:

  • Monitoring and lifestyle choices: If your child has a CHD, it is important to have regular follow-ups with a specialist to monitor your child’s condition. You can also help your child stay healthy by feeding them a balanced, heart-healthy diet, encouraging regular physical activity and practicing good hygiene to prevent infections.
  • Medications: Sometimes medications are necessary to reduce the symptoms of CHD and improve quality of life for your child. One of our experienced cardiologists will work with you to pick out the best treatment strategy if this becomes necessary.
  • Cardiac catheterization: Sometimes doctors can treat CHDs without surgery. Cardiac catheterization allows a cardiologist to thread a small tube through an artery in your child’s leg up to the heart. The cardiologist can then repair the defect without open-heart surgery.
  • Surgery: There are many surgeries that treat CHDs. The goal of surgery is to fix the structural defect and return the heart to full function. Thanks to advances in technology and medical knowledge, these procedures have high success rates.
  • Heart transplant: When other options can’t treat a CHD, doctors may consider a heart transplant. This procedure replaces your child’s heart with a healthy donor heart.

Cardiothoracic Surgery at Children’s Hospital Los Angeles

Does your child have a congenital heart defect? Learn how our cardiothoracic surgery expertise may benefit your child.