Congenital heart defect
Definition and Types
A Congenital heart defect (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. Signs and symptoms depend on the specific type of problem. Symptoms can vary from none to life-threatening. When present, they may include rapid breathing, bluish skin, poor weight gain, and feeling tired. CHDs are divided into two main groups: cyanotic, which are usually more severe and include tetralogy of Fallot and transposition of the great arteries, and acyanotic, which include ventricular septal defect, atrial septal defect, and patent ductus arteriosus.
Causes
The cause of a congenital heart defect is often unknown. Certain cases may be due to infections during pregnancy such as rubella, use of certain medications or drugs such as alcohol or tobacco, parents being closely related, or poor nutritional status or obesity in the mother. Having a parent with a congenital heart defect is also a risk factor. A number of genetic conditions are associated with heart defects including Down syndrome, Turner syndrome, and Marfan syndrome, among others.
Diagnosis
Diagnosis can be made during pregnancy or after birth. Often a heart murmur is present but not all heart murmurs are associated with CHDs. Medical imaging such as with ultrasound is typically used for diagnosis. Other methods such as cardiac catheterization can also be used. Screening using pulse oximetry is recommended in the first 24 to 48 hours after birth.
Treatment
Treatment depends on the specific type of defect. Some may heal on their own over time, others may need to be repaired with cardiac surgery or by cardiac catheterization. A number of procedures can be done by catheter such as the placement of a septal occluder to fix a hole in the heart. When the condition results in low oxygen levels, supplemental oxygen may be useful. Heart transplantation may be done if medical treatment is not effective.
Epidemiology
Congenital heart defects are the most common birth defect. They affect 8 out of every 1,000 newborns. More than half of those affected survive to adulthood. CHDs are estimated to affect 1% of newborns born each year in the United States and are the main cause of birth defect-associated illnesses and death.
Research Directions
Research into congenital heart defects includes studies into the genetic causes of the most common forms of the disease, the development of new diagnostic techniques, and the innovation of novel treatment strategies. The ultimate goal of this research is to improve the quality of life and long-term outcomes for individuals with congenital heart defects.