Congenital Heart Defects (CHDs) are defects that are present at birth that affect the structure of a baby’s heart and how blood flows through the heart and out to the rest of the body. CHDs can range from mild to severe, such as a small hole in the heart to leaky valves and defective vessels that may make blood flow too slowly or may be blocked incompletely. CHDs are the most common type of birth defect worldwide, occurring when a baby’s heart develops incorrectly during pregnancy. There are many types of heart congenital heart defects that can affect one or multiple parts of the heart. So, what causes CHDs and how are they treated?

Causes of CHDs

Of the 40,000 babies a year born with a heart defect, 1 in 4 are born with a critical congenital heart defect that requires surgical intervention or other procedures in the first year of life. Though CHDs are due to the abnormal development of the heart in the first six weeks of pregnancy, researchers aren’t totally sure what causes them, though changes in the baby’s genes have been known to cause heart defects in some cases. It is also believed that certain medical conditions, medications, and environmental and lifestyle factors may play a role. Several things may increase the chances of a baby developing a CHD, such as:

  • Family Medical History: There is a 2-15% chance of a heart defect recurring in a family depending on the type of defect and whether heart defects run in the family.
  • Genetic Conditions: Only a few genes have been linked to heart defects. Specific genetic conditions can include other health problems and can have a 50% of being passed down to children. 
  • Environmental Exposure: The mother’s health before and during pregnancy can determine the health of the baby in-utero. Infections, drug or alcohol use, smoking, and improper prenatal care can all negatively impact the baby’s health and leave them more susceptible to developing birth defects, such as CHDs. Other conditions like diabetes, gestational diabetes, or developing infections like rubella during pregnancy can also increase the risk of a baby being born with a heart defect.

Types of Symptoms

There are many types of CHDs. The most common include:

  • Septal Defects: These are “holes” or openings in the wall between the left and right sides of the wall. 
  • Heart Valve Defects: Issues with the valves controlling the flow of blood through the heart.
  • Blood Vessel Defects: Defects in the large blood vessels that carry blood in and out of the heart.

Symptoms for CHDs can range in severity depending on the type and number of defects. Some defects may have few or no signs or symptoms at all. Some signs and symptoms that a baby might have a heart defect include:

  • Low blood pressure after birth
  • Bluish tint in skin, lips or fingernails
  • Fatigue – Babies showing signs over being overly-tired or lethargic, especially during feedings
  • Fast or labored breathing
  • Feeding problems
  • Poor weight gain

Severe heart defects generally become more evident during the first few months after birth. However, not all CHDs cause other problems. The ones that do may cause varying minor problems. Children with heart defects may have trouble with speech or language, and may have problems with mental, emotional, and behavioral growth and development. Children living with CHDs may also be predisposed to developing other health conditions like:

  • Endocarditis
  • Arrhythmias
  • Heart Failure
  • Pulmonary Hypertension
  • Kidney and Liver Disease

Potential complications of a congenital heart defect can include congestive heart failure, heart infections, mental health disorders, or a stroke. 

Diagnosis and Treatment

Some CHDs may be diagnosed during pregnancy using a special ultrasound called a fetal echocardiogram, done between 18 and 22 weeks of pregnancy. Minor defects may be diagnosed later during a routine checkup. During the first few days of birth, all newborns are checked for congenital heart defects by monitoring their blood oxygen levels. If a pulse oximeter shows low blood oxygen, more tests may be done to find out if the newborn has a heart defect.

Because not all CHDs cause severe health problems, some may not be diagnosed until after birth, or during childhood or adulthood. Genetic testing may also be done to see if a certain gene caused the defect. If your child is diagnosed with a heart defect, you’ll be referred to a pediatric cardiologist who you’ll have regular visits with. To diagnosis the specific type of heart defect a child has, a pediatric cardiologist may perform tests ranging from an electrocardiogram (EKG) to a chest X-ray or an echocardiogram. 

Treatment options for congenital heart defects can include surgical procedures, cardiac catheterizations (a procedure done to repair simple defects), heart transplants, or medications. As a person with a heart defect ages, further heart problems can occur. Some people may require several surgeries over the years to manage their CHDs. All children and adults who have been diagnosed with a heart defect need follow-up care from a cardiologist, even if their defect isn’t life-threatening or severe or was repaired. 


While prevention of CHDs may not be completely possible, there are many steps you can take to lower the risk of your baby being born with a CHD during pregnancy. This can include:

  • Proper prenatal care: Regular checkups with an OBGYN during pregnancy are important for both the mother and the baby’s health. 
  • Taking folic acid: Taking a multivitamin with 400 micrograms of folic acid daily has been shown to reduce the risk of birth defects developing in the spinal cord and brain and may be used to help reduce the risk of heart defects as well. 
  • Avoiding certain lifestyle choices like drinking or smoking: Drinking, smoking, and secondhand smoke during pregnancy have all been shown to negatively impact both the mother and the baby’s health and may increase the risk of birth defects. 
  • Getting the rubella vaccine: Developing rubella during pregnancy can affect the baby’s heart development and cause the heart to develop incorrectly. Getting vaccinated before trying to get pregnant is recommended. 
  • Controlling blood sugar: Pre-existing conditions like obesity or diabetes can be managed during pregnancy, and good control of your blood sugar can reduce the risk of CHDs. 
  • Avoiding harmful substances: Painting or cleaning with strong-smelling chemicals may increase the risk of birth defects during pregnancy. 
  • Talking with your doctor about taking medications: Certain medications can cause birth defects. Talking with your doctor about any medications you take can help determine which ones are safe to continue taking and which ones you may need to substitute or stop taking all together during pregnancy. 

Living with CHD

Luckily, technological advances in medical care and treatment have allowed infants, children and adult with CHDs to live longer and healthier lives. Many children with CHDs now live into adulthood. Over 2.4 million Americans alive today live with some form of congenital heart defect. However, people living with congenital heart defects need lifelong care. Managing CHDs can be difficult and require careful attention to an individual’s health. Proper nutrition to reduce fatigue and strain on the heart, regular exercise, and taking medications consistently (if necessary) are all vital to maintain proper heart health. People with a CHD may also have other health problems related to their defect that need additional care. 

If you are living with a heart defect, making your health a priority is a lifesaving choice. Don’t let cost be a barrier to receiving care. Call us at (702) 731-0909 to find out how we can help you or your child manage your CHD. With our in-house specialist referral network, we can make sure you get the right care for the right price. Find out more at fmhwc.org today. 


U.S. Department of Health & Human Services (2022, January 24). What are CHDs. CDC. Retrieved February 4, 2023, from https://www.cdc.gov/ncbddd/heartdefects/facts.html

MedlinePlus [Internet]. (2022, August 10). Congenital Heart Defects. Bethesda (MD): National Library of Medicine (US). Retrieved February 5, 2023, from https://medlineplus.gov/congenitalheartdefects.html

American Heart Association editorial staff. (2018, May 14). About Congenital Heart Defects. American Heart Association. Retrieved February 5, 2023, from https://www.heart.org/en/health-topics/congenital-heart-defects/about-congenital-heart-defects

Mayo Clinic Staff. (2022, May 3). Congenital heart defects in children. Mayo Clinic. Retrieved February 6, 2023, from https://www.mayoclinic.org/diseases-conditions/congenital-heart-defects-children/symptoms-causes/syc-20350074

U.S. Department of Health & Human Services (2022, July 11). Living with a CHD. CDC. Retrieved February 7, 2023, from https://www.cdc.gov/ncbddd/heartdefects/living.html

Category: Disease Awareness