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Heart Defects in Babies

Posted on Feb 04, 2021

Bevin Weeks, M.D., performs a fetal echocardiogram, which is a type of ultrasound used to take pictures of a baby’s heart, and examine the heart’s structure, function and rhythm.
Bevin Weeks, M.D., performs a fetal echocardiogram, which is a type of ultrasound used to take pictures of a baby’s heart, and examine the heart’s structure, function and rhythm.

Pregnancy can come with a roller coaster of emotions — from the excitement of welcoming a new baby to anxiety at the 20-week appointment. That’s the time when baby is scanned head to toe via ultrasound, and when problems with the heart, called congenital heart defects (CHD) are found. CHD are caused by abnormal development in the heart or blood vessels around the heart that ultimately affect blood flow, breathing, activity levels and feeding.

Genetics, diet and/or environmental factors may be a cause for heart defects in unborn babies, but many times there’s no known reason why some babies are more at risk than others. The 20-week pregnancy appointment provides some initial information as your care team gets a closer look at the heart’s four chambers and surrounding vessels, checking for heart disease and abnormalities. Michael Puchalski, M.D., medical director of pediatric cardiology and co-director of the Johns Hopkins All Children’s Heart Institute says while it can be daunting to learn about your baby’s heart issue, it’s important to get the facts.

“As parents, when you hear ‘there might be a problem’ in this visit, there can be a lot of anxiety and information can be hard to process,” Puchalski says. “Our suggestion is to get seen as soon as possible by a fetal cardiologist to learn more about your baby’s condition. It’s important to know the facts and also understand that many babies can do well after being born with CHD.”

The first step starts with meeting the experts, such as the team within Johns Hopkins All Children’s Fetal Heart program. This team helps in:

  • Meeting with families early on to diagnose CHD
  • Helping coordinate care both before and after birth
  • Reviewing delivery options (in some cases, delivery should be at a specialty center that allows mom and baby in the same hospital to help decrease the time to optimal care and provide the best possible outcomes)
  • Discussing potential surgical interventions after birth

Common Types of Heart Defects in Babies

Programs like Johns Hopkins All Children’s treat a wide range of heart conditions, including some of the most common defects, such as:

“Hole in the Heart” or ventricular septal defect (VSD)

This is one of the most common defects, characterized by a hole in the lower two chambers of the heart, which can increase blood flow to the lungs and affect feeding and breathing. Sometimes your baby may not need surgery right away or in some cases, not at all. If the baby is eating well and takes a normal amount of time to eat, then he or she will likely be followed by a cardiologist to see if the hole closes on its own or if surgery is required later on.

Single ventricle

Instead of two lower pumping chambers, only one chamber – or ventricle – works to pump blood. This causes a number of problems including cyanosis (bluish discoloration of the skin, lips, nailbeds) and shortens life expectancy. Once baby is born, several surgeries are usually required to re-route blood to the lungs and/or body. The most common of these defects is hypoplastic left heart syndrome or HLHS. All of these conditions may require a heart transplant later in life.

Aortic stenosis

This condition consists of a narrowing of the aortic valve that affects blood flow to the brain and body. Some mild cases may not need treatment, while more serious cases will require surgery to repair/replace the valve and improve blood flow. A cardiac catherization (a thin tube inserted through the leg/groin) can also help doctors treat aortic stenosis in some situations to delay or prevent surgery.

Tetralogy of Fallot (TOF)

This condition is made up of four defects affecting the function of the heart centered around narrowing of the pulmonary valve or flow of blood to the lungs. If untreated, babies can have low oxygen levels and turn blue, especially when they cry, so called Tet spell. Surgery is required either after birth or around 4-6 months to complete a full repair to improve blood flow.

Atrioventricular canal

This occurs when only one valve persists inside the heart instead of two. Oxygen-rich blood mixes with oxygen-poor blood through a hole in the upper and lower chambers of the heart. There is cyanosis and heart failure, which leads to difficulty breathing and failure to gain weight. This is the most common condition in children with Down Syndrome and typically requires repair around 4-6 months of life.

Planning for Your Child’s Future Heart Care

Once you’ve educated yourself and talked to experts in pediatric heart conditions, start planning early on in your pregnancy for the future of your child’s heart care. Ask your care team whether your baby’s heart defect requires you to deliver somewhere that specializes in these births and has a dedicated cardiovascular ICU, in case your baby needs special care right away.

Puchalski adds that it’s also important to mentally prepare for challenges along the way, such as feeding issues, developmental delays, and whether your baby will need cardiology care through his or her whole life.

“Heart defects are not a limitation,” Puchalski adds. “It’s amazing what we know now and what interventions we can use to not only help these babies and children live a normal life but excel and improve their overall quality of life.”

Visit HopkinsAllChildrens.org/Cardiology for more information. Please call 727-767-3333 to make an appointment. You can also request an appointment online by filling out our apointment request form, and a member of the team will get in contact with you to schedule your child's appointment.


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