What is a Congenital Heart Defect (CHD)?

Congenital Heart Defects (CHD), also known as a Congenital Heart Anomaly or Congenital Heart Disease, is a problem in the structure of the heart that is present at birth. The word “congenital” means existing at birth. The terms “Congenital Heart Defect” and “Congenital Heart Disease” are often used to mean the same thing, but “defect” is more accurate. The heart ailment is a defect or abnormality, not a disease. A defect results when the heart or blood vessels near the heart don’t develop normally before birth.

What causes Congenital Heart Disease?

A Congenital Heart Defect (CHD) is a heart problem which is present at birth. It is caused by abnormal formation of the heart during fetal development. In most cases, when a baby is born with Congenital Heart Disease, there is no known reason for it. Scientists know that some types of congenital heart defects can be related to an abnormality in the number of an infant’s chromosomes, single gene defects, or environmental factors. In most cases, there is no identifiable cause for the heart defect, and they are generally considered to be caused by multifactorial inheritance.
Multifactorial inheritance means that “many factors” (multifactorial) are involved in causing a birth defect. The factors are usually both genetic and environmental, where a combination of genes from both parents, in addition to unknown environmental factors, combine to produce the trait or condition.  (Source: stanfordchildrens.org)

How many types of CHDs exist?

Congenital Heart Defects are structural problems arising from abnormal formation of the heart or major blood vessels. At least 18 distinct types of Congenital Heart Defects are recognized, with many additional anatomic variations. Recent progress in diagnosis and treatment (surgery and heart catheterization) makes it possible to fix most defects, even those once thought to be hopeless.

How common are CHDs?
  • Congenital Heart Defects are the most common birth defects. Nearly one of every 100 babies is born with a CHD.
  • Each year approximately 40,000 babies are born in the United States with a congenital heart defect. (Source: CHPHC)
  • Approximately two to three million individuals are thought to be living in the United States with CHDs. Because there is no U.S. system to track CHDs beyond early childhood, more precise estimates are not available. (Source: CHPHC)

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