This post was written based on a recent appearance by Sabeena Ramrakhiani, MD, PPG – Cardiology, on the television program PBS HealthLine.

A cardiologist explains congenital heart disease and shares some common causes, symptoms, and strategies for diagnosis in children and adults.

What is congenital heart disease?

If we break it down, congenital means "from birth." So congenital heart disease is a condition an individual has from the time they are born. The development of the heart happens predominantly in the first eight weeks of gestation. However, if a baby's heart does not develop properly, it can affect the walls, chambers and valves of the heart and the connections between the blood vessels that come out of the heart, such as the pulmonary artery that's taking blood to the lungs or the aorta that's carrying blood to the rest of the body. If any of those organs or structures within the heart or its cardiovascular system form abnormally, you will likely be born with a defect.

What are some of the primary causes of congenital heart disease?

In some cases, we don't know what caused the condition, while in others we can narrow it down and pinpoint the cause. For example, some congenital heart defects are associated with maternal diabetes. If a mother has pregestational diabetes or gestational diabetes, that can affect the baby's organs and their formation. If a mother is on certain prescription medications, smokes, or engages in alcohol and substance abuse, that can also affect the production and development of a child's organs in the embryo.

Furthermore, many individuals don't realize they are pregnant until they are about six weeks along, which is well into the eight-week developmental stage of gestation. I mention this because sometimes accidental exposure to something could cause a congenital heart defect or condition. Some syndromes and chromosomal abnormalities could also cause congenital heart disease, so knowing your family history is vital. It could help predict or identify any problems.

How are congenital heart conditions caught or diagnosed?

Typically, if congenital heart disease is suspected, a provider will perform a fetal echocardiogram (ultrasound scan) of the baby while in the mother's womb to evaluate their still-developing heart. This can occur anywhere from 20 to 24 weeks gestation.

That said, not all congenital heart problems are discovered within the prenatal stages. In some cases, defects may go unidentified until shortly after birth or a few months later. Some common signs that may signify a problem could include, but are not limited to:

• Irritability
• Inconsolable
• Rapid breathing
• Rapid heartbeat
• Difficulty feeding
• Shortness of breath when feeding
• Bluish tinge to the skin or lips

If a provider suspects an issue, they may start by getting a family history, checking vitals, discussing the symptoms they're seeing, and performing a physical exam so they can listen to the child's heart for any sign of abnormality and order further testing, if necessary.

How might an adult discover that they have a congenital heart condition?

For some individuals, the signs and symptoms of congenital heart disease, like a murmur or arrhythmia, may go unnoticed until adulthood. For instance, some women don't realize they have an issue until their obstetrician notices something during a routine prenatal visit. For others, a defect may go undiscovered until a test for another issue reveals it. Or it may not come to light until a person experiences severe symptoms of heart failure like shortness of breath, chest pains and/or heart palpitations. If you're having worrisome symptoms or if they become severe or persist without relief, you should call 911 and seek immediate medical attention.

Can children outgrow a congenital heart defect or condition?

Sometimes, when a baby is born with a mild congenital heart defect or condition such as a hole in the heart, it can close and resolve on its own as the child grows and gets older. If this occurs, it means they would no longer have a defect in their heart.

On the other hand, there are also situations when the opposite occurs. For example, the ductus arteriosus is a small tube (blood vessel) connecting blood from the aorta to the pulmonary artery. It must stay open in utero because it allows the oxygenated blood to reach the baby's lungs. Once the baby is born, this passageway will typically close on its own.  If it doesn't seal, the child is left with a congenital heart defect.

Does congenital heart disease always require treatment?

Not necessarily. Some congenital heart defects don't ever close or heal, and they don't need to. Certain conditions don't require treatment, and the affected individual can go through life without intervention.  It depends on the individual, their situation and the type of defect, which would require follow-up and care from a pediatric cardiologist. They are the best resource to determine the proper course of action and if any treatment is necessary.

Can someone live a full life despite a congenital heart disease diagnosis?

Yes, advancements in medicine and treatments make it possible to live a long, healthy life. In fact, with appropriate, ongoing and long-term care, many children and adults diagnosed with congenital heart conditions lead very full lives.