Atrial septal defects (ASD) are holes in the walls that separate the upper chambers of the heart (atria). By opening this hole, oxygen-rich blood from the left atrium mixes with oxygen-poor blood from the right atrium, reducing heart efficiency and increasing pulmonary pressure.
The exact cause of ASD is not known, but some factors that may increase the risk of developing it include:
Genetic disorders, such as Down syndrome
Family history of congenital heart defects
Exposure to certain medications, infections, or substances during pregnancy, such as alcohol, rubella, or anti-seizure drugs
Premature birth or low birth weight
Many people with ASD have no symptoms or only mild ones, especially if the hole is small. However, some possible signs and symptoms of ASD include:
Shortness of breath, especially during exercise
Fatigue or weakness
Frequent respiratory infections
Heart palpitations or irregular heartbeat
Stroke or transient ischemic attack (TIA)
Swelling of the legs, feet, or abdomen
ASD can be diagnosed by a doctor using various tests, such as:
Physical examination, which may reveal a heart murmur, an abnormal sound caused by turbulent blood flow
Electrocardiogram (ECG), which records the electrical activity of the heart and can detect abnormal rhythms or patterns
Echocardiogram, which uses sound waves to create a picture of the heart and can show the size and location of the hole, as well as the blood flow through it
Chest X-ray, which can show the shape and size of the heart and lungs and can reveal signs of fluid buildup or enlargement
Cardiac catheterization, which involves inserting a thin tube (catheter) into a blood vessel and guiding it to the heart, where it can measure the pressure and oxygen levels in the chambers and vessels, and also close the hole using a device if needed
The treatment for ASD depends on the size and location of the hole, the age and health of the person, and the presence and severity of symptoms. Some possible treatment options include:
Observation and monitoring, which may be sufficient for small holes that do not cause symptoms or complications, and may close on their own over time
Medications, which can help manage symptoms such as irregular heartbeat, high blood pressure, or fluid retention, but cannot close the hole
Surgery, which involves making an incision in the chest and using patches or stitches to close the hole, and may be recommended for large holes that cause symptoms or complications, or do not close on their own by age 5
Catheter-based procedure, which involves inserting a catheter into a blood vessel and guiding it to the heart, where it can deliver a device that plugs the hole, and may be an alternative to surgery for some people
There is no sure way to prevent ASD, but some steps that may reduce the risk of having a child with ASD include:
Getting regular prenatal care and avoiding exposure to harmful substances during pregnancy, such as alcohol, tobacco, or drugs
Getting vaccinated against rubella and other infections that can affect the development of the heart
Seeking genetic counseling if there is a family history of congenital heart defects or genetic disorders
Having regular check-ups and screenings for heart problems, especially if there are signs or symptoms of ASD
