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Hope and Health

Your source to help with your family's health from WVU Medicine Children's

Hope & Health
Articles and Updates from WVU Medicine Children's

02/1/2024 | Marissa Greene, DNP, APRN, CPNP, RN-FA

What is a Congenital Heart Defect? Everything Parents Need to Know From Diagnosis to Treatment

What is a Congenital Heart Defect?

Congenital heart defects (CHDs) are problems that occur at birth. They can affect the structure or function of the heart.

There are a wide range of CHDs from simple to complex. This can include holes within the interior walls of the heart and narrow or leaky valves in the heart. In more severe forms, blood vessels or heart chambers may be missing, poorly formed, or in the wrong place.

Congenital heart defects affect about one in 110 babies born each year in the United States, making them the most common birth defect. Of the babies born with CHDs, 25 percent will need surgery or other interventions in their first year of life.

Congenital heart disease is a lifelong illness requiring continued, specialized care.

Did you know that WVU Medicine Children’s is the only pediatric heart center in West Virgina? We provide all around cardiac care for all ages from newborns through adulthood.

Our pediatric cardiac team includes surgeons, anesthesiologists, cardiologists, intensive care physicians, advanced practice professionals, perfusionists, nurses, surgical technicians, sonographers, pharmacists, respiratory therapists, dieticians, and more.

How Did This Happen?

Most of the time, the cause of a congenital heart defect is unknown. Mothers will often wonder if they did something to cause their baby to have a cardiac defect. It is often presumed to be genetic, but only a few genes have been linked to heart defects.

Some genetic conditions can be linked to CHD, such as:

  • Chromosome abnormalities (Down Syndrome, trisomy 18 and trisomy 13, and Turner syndrome)
  • Microdeletion or microduplication syndrome (DiGeorge syndrome)
  • Single gene defects
  • Environmental factors

On rare occasions, the ingestion of some drugs or the occurrence of infections during pregnancy can also cause other congenital heart defects.

How is a Congenital Heart Defect Diagnosed?

Most congenital heart defects can be detected during pregnancy during a routine ultrasound. Others might be diagnosed shortly after birth. More mild forms of congenital heart defects may not be detected until the child gets older. Some defects are discovered after the pediatrician or provider hears a heart murmur.

Tests that can help diagnose CHDs are:

  • Electrocardiogram (EKG)
  • Echocardiogram
  • Chest X-ray
  • Cardiac magnetic resonance imaging (MRI) or computed tomography (CT)
  • Cardiac catheterization
  • Blood work and other diagnostic lab tests

What are the Signs and Symptoms?

  • Cyanosis
  • Respiratory distress
  • Poor feeding
  • Poor weight gain
  • Recurrent lung infections
  • Diminished ability to exercise or play compared to peers

Will my Child Need Surgery?

Depending on the cardiac defect, patients may require repair during infancy prior to discharge from the hospital.

Other defects may not require repair until three- to- six-months of age.

Mild forms of cardiac defects may be able to be monitored by their cardiologist and may not require repair for a couple of years. Our pediatric cardiologists at WVU Medicine Children’s keep in close contact with our surgical team to determine a treatment plan.

How is a Patient’s Lifespan Impacted by CHD?

With advancements in treatment, patients with congenital heart defects are living longer, with more than 85 percent of children born with CHDs living into adulthood.

What does WVU Medicine Children’s Treat?

  • Anomalous coronary artery
  • Aortic stenosis
  • Atrial septal defect (ASD)
  • Atrioventricular septal defect (AVSD)
  • Coarctation of aorta (CoA)
  • Double outlet right ventricle (DORV)
  • Ebstein anomaly
  • Hypoplastic left heart syndrome (HLHS)
  • Mitral valve defects
  • Patent ductus arteriosus
  • Partial anomalous pulmonary venous return
  • Pulmonary atresia
  • Pulmonary stenosis
  • Shone’s complex
  • Single ventricle defects
  • Tetralogy of Fallot (TOF)
  • Total anomalous pulmonary venous return (TAPVR)
  • Transposition of great arteries (TGA)
  • Tricuspid atresia
  • Truncus arteriosus
  • Ventricular septal defect (VSDs)

To learn more about the WVU Medicine Children’s Heart Center, visit To make an appointment, call 855-WVU-CARE (2273).

About the Author

Marissa Greene is a pediatric nurse practitioner at the WVU Medicine Children’s Heart Center.

Greene earned her nursing and advanced practice degree from West Virginia University, a Doctor of Nursing practice degree and acute care pediatric nurse practitioner from Rush University, and Surgical First Assist from National Institute of First Assist.

She is from West Virginia and has cared for our “baby hearts” as a nurse and nurse practitioner since 2009. Greene has worked in the Cardiac Intensive Care Unit, outpatient clinic, and operating room. She is part of our cardiac surgery team with Christopher Mascio, MD, and Dhaval Chauhan, MD. She has been passionate about this patient population from the start. After seeing her first cardiac surgery, she instantly fell in love!. Greene especially enjoys helping families through the surgical process.

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