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What is a Congenital Heart Defect?

Congenital heart defects (CHDs) are the most common type of birth defect. 

CHDs are present at birth and can affect the structure of a baby’s heart and the way it works. They can affect how blood flows through the heart and out to 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).

About 1 in 4 babies born with a heart defect has a critical CHD (also known as critical congenital heart disease). Babies with a critical CHD need surgery or other procedures in the first year of life.

Some CHDs may be diagnosed during pregnancy using a special type of ultrasound called a fetal echocardiogram, which creates ultrasound pictures of the heart of the developing baby. However, some CHDs are not detected until after birth or later in life, during childhood or adulthood. If a healthcare provider suspects a CHD may be present, the baby can get several tests (such as an echocardiogram) to confirm the diagnosis. (source: CDC)

 
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What are the symptoms?

Serious heart defects usually become evident within a few days, weeks or months of life.

The most common signs and symptoms in newborns include:

  • A heart murmur

  • A bluish tint to skin, lips, and fingernails (“blue baby”)

  • Fast breathing/shortness of breath

  • Poor feeding in infants because they tire easily while nursing

  • Poor weight gain in infants

The signs and symptoms vary depending on the severity of the defect. Some infants have no signs or symptoms while others have severe or life-threatening symptoms.

(source: American Pregnancy Association)

 
Image by Mateus Campos Felipe

What to ask at your
20 week anatomy scan?

The anatomy ultrasound is a level 2 scan usually performed between 18-22 weeks gestation. At 20 weeks the baby’s heart is about the size of your thumbnail. 

Here are some important questions you can ask your physician to rule out some of the critical congenital heart defects.

  1. Do you  see all 4 chambers and do they look normal?

  2. What is my baby's heart rate?

  3. Is the heart functioning normal?

  4. Are the chamber walls complete and do you see any holes?

  5. Can you see the position of the arteries?

  6. If the physician indicates that the ultrasound fetal anatomic survey looks normal you should confim that includes all cardiac and extra-cardiac findings.

  7. If anything was suboptimally visualized, ask your physician if they feel there is any need for further ultrasound assessment.

 
Image by jesse orrico

There is no cure for CHD. With early detection your baby can get the proper treatment that may increase the odds of them living a long healthy life. 

 

Other statitics

  • Congenital heart defects are a leading cause of birth defect-associated infant illness and death. (source: CDC)

  • The prevalence of some congenital heart defects, especially mild types, is increasing, while the prevalence of other types has remained stable. (source: CDC)

  • About 25% of babies with a CHD have a critical CHD. Infants with critical CHDs generally need surgery or other invasive procedures within their first year of life. (source: CDC)

  • About 25% of people with a congenital heart defect have other physical problems or developmental or cognitive disorders. (source: CDC)

  • The cost for inpatient surgery to repair congenital heart defects exceeds $1.9 billion a year. (source: CDC)

  • 25% of babies born with a complex CHD will not see their 1st birthday.(source: CDC)

  • Over 85% of babies born with a CHD now live to at least age 18. However, children born with more severe forms of CHDs are less likely to reach adulthood. (source: CDC)

  • In the United States, twice as many children die from congenital heart defects each year than from all forms of childhood cancer combined, yet funding for pediatric cancer research is five times higher than funding for CHD. (source: American Heart Association)

  • Congenital heart defects occur frequently and are often life threatening, yet research into them is grossly underfunded in relation to the prevalence of the disease. (source: CHFN)

  • Of every dollar the government spends on medical funding only a fraction of a penny is directed toward congenital heart defect research. (source: CHFN)

  • In the last decade death rates for congenital heart defects have declined by almost 30% due to advances made through research. (source: CHFN)

  • There are 40 different types of congenital heart defects. Little is known about the cause of most them. There is not yet a cure for any of them. (source: CHFN)