Alternative Names
congenital heart disease; CHD; congenital cardiac defect
Symptoms & Characteristics
A congenital heart defect (CHD) is a problem with the structure of the heart that may or may not be clinically apparent at birth. The heart begins to develop shortly after conception and completes development at about 9 weeks gestation. During development, structural defects can occur.
These defects can involve the walls of the heart, the valves of the heart (one way openings) as well as the arteries and veins near the heart. Congenital heart defects can disrupt the normal flow of blood through the heart.
A CHD can be isolated or part of an underlying genetic condition. CHDs may cause mild to severe problems depending on the type and severity of the defect. The problems may be more severe if an underlying genetic condition is present.
Treatment
Treatment for a congenital heart defect can include medications, surgery, other medical procedures, and heart transplants. The overall prognosis, management and treatment depends on the type and severity of the defect; as well as the affected person's age, size and general health.
How Common Is It?
In the United States, about 1 in 200 births are affected with a congenital heart defect (from mild to severe).
- Congenital heart defects are the most common major birth defect.
Genetics & Inheritance
Many cases of congenital heart defects occur as an isolated defect. An isolated congenital heart defect is a multifactorial condition, which means that it involves a combination of genetic and environmental factors.
- Some environmental factors have been proposed to increase the risk for a CHD during pregnancy. Some of these factors include maternal alcohol and cocaine use, first trimester exposure to rubella (German measles) virus, as well as exposures to certain other viruses or industrial chemicals.
- Other studies have suggested that taking certain medications, such as accutane, lithium and some anti-seizure medications during pregnancy also increases the risk for a CHD.
- In addition, females with uncontrolled diabetes or a metabolic condition called PKU are at increased risk to have a child with a congenital heart defect as well as other birth defects.
Some cases of CHDs occur as a feature of an underlying genetic condition. In most of these conditions, there are additional characteristic mental and/or physical defects. For example, heart defects can be found in people with Down syndrome, Trisomy 18, deletion22q11.2 syndrome, Holt-Oram syndrome or Noonan syndrome.
An evaluation by a medical geneticist may be helpful in distinguishing between an isolated CHD versus a CHD caused by an underlying genetic condition. This distinction is important for not only the health and management of the affected person but also for an accurate estimation of recurrence risk within a family.
In the absence of a known genetic cause/condition, the estimated recurrence risk for a congenital heart defect within a family depends on different factors. These factors may include the number of affected people within the family, the degree of relationship (close, distant) of the affected relatives, the sex of all affected people, and the type and severity of the defect.
Genetic Testing
In the absence of a known or suspected genetic cause/condition, genetic testing for a congenital heart defect is unavailable.
During pregnancy, a comprehensive ultrasound (a detailed fetal ultrasound) and a fetal echocardiogram (a detailed fetal ultrasound of the heart) may be helpful in visualizing a CHD. Should one be noted, the availability of prenatal testing can be discussed with a genetic counselor and/or a medical geneticist. For more information about genetic testing options during pregnancy see: Genetic Testing in Pregnancy
It is always recommended to see genetic counseling with a trained genetic professional for a complete evaluation, accurate diagnosis, and discussion of the benefits and limitations of testing and recurrence risk. Use our find a genetic professional directory to locate a trained genetic professional in your area.
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