Congenital heart defects are one of the most common types of birth defect in the United States, affecting nearly 1% (roughly 40,000) of births each year. For more on the subject, we turn to Vimal Jayswal, MD, PPG – Pediatric Cardiology. Read on as he helps define this complex condition and the importance of a timely diagnosis.
Defining the condition
A baby’s heart begins to develop at conception and is completely formed by eight weeks into the pregnancy. Congenital heart defects (CHD) can happen anytime during the first eight weeks of the baby’s development. Most congenital heart defects usually present at birth and can affect the structure of a baby’s heart and how it works, affecting how blood flows through the heart and into the rest of the body. CHDs can vary from mild (such as a small hole in the heart) to severe (such as missing or poorly formed parts of the heart), with some requiring treatment or surgery.
Causes
We are still learning why heart defects happen, but one hypothesis is that a disturbance in the embryologic process interrupts the heart's development. It's also believed that genetics (chromosomal anomalies and syndromes), certain medical conditions, some medications, and environmental or lifestyle factors may also play a role and possibly place developing babies at risk.
Diagnosis
When diagnosing a heart defect, we use a systemic approach. If a CHD is suspected during pregnancy, most providers utilize a fetal echocardiogram, an ultrasound scan of the baby while in the womb, to evaluate their developing heart. Though, not all heart defects get discovered during the prenatal period. In some cases, defects may not be identified until birth or later as a child ages. If a provider suspects a defect in an older child, they may start by getting a family history, checking their vitals, discussing their symptoms and performing a physical exam. They may also listen to the child's heart with a stethoscope for any sign of an abnormal murmur and, if necessary, order an electrocardiogram.
Signs and symptoms
We try to catch CHDs as early as possible. Typically, severe CHD cases are identified either during pregnancy, soon after birth, or within the first few months of an infant's life. Some common signs and symptoms could include:
- Irritability
- Inconsolable crying
- Rapid breathing
- Excessive sweating
- Difficulty feeding
- Shortness of breath during feedings
- Pale gray or blue lips, tongue or fingernails
- Swelling in the legs, belly or around the eyes
- Poor weight gain and growth in the first six months of life
Milder cases may not appear immediately or get diagnosed until later in childhood. Signs and symptoms of CHD in older children could include:
- Chest pain
- Dizziness
- Heart palpitations
- Easily short of breath during regular exercise or activity
- Weakness, fatigue and fainting during exercise or activity
- Swelling in the hands, ankles or feet
- Growth and development issues
This is where regular visits and appointments with your child’s pediatrician are so important. They can help assess and identify any possible underlying heart conditions while helping determine next steps.
Treatment
A child's CHD treatment depends on their age, symptoms and severity of the defect. With milder cases, we monitor patients closely to ensure their defect isn't causing any extra burden on the heart. In fact, some mild CHDs close or heal by themselves, causing no long-term effects and need no treatment. In more severe cases, and depending on the diagnosis, a significant heart defect may require further treatment, including medications, procedures or surgery. In either case, patients are often followed over the long term to make sure their heart functions properly after surgery and as they grow and mature.
Final thoughts
A timely diagnosis is critical, especially with complex congenital heart defect cases. Early intervention and treatment can make a big difference and help prevent serious complications or disability. I want patients and families to know that we strive to be their biggest advocates as they navigate a very complex condition. We are always happy to help and take pride in being part of their care team.
For more information about pediatric cardiology at Parkview Physicians Group – Pediatric Specialties, please call 260-266-5400.