Atrial Septal Defect (ASD)

Causes of atrial septal defect

Atrial septal defects typically develop during early fetal development and are likely caused by a variety of factors including genetics, use of alcohol, street drugs or conditions such as diabetes or lupus.

Risk factors for atrial septal defect

People with other genetic abnormalities or defects are at higher risk for developing an atrial septal defect. For example, people with Down syndrome are at higher risk for having an atrial septal defect. In fact, approximately half of all Down syndrome patients have some type of septal defect.

Conditions that may occur during pregnancy that may increase your risk of a having a child with an atrial septal defect include:

• Diabetes — you have (or had) diabetes while pregnant, you could have a baby with a heart defect.
• Obesity — patients who are obese may be at higher risk for having a baby with a birth defect.
• Fetal alcohol syndrome — approximately 25% of patients born with fetal alcohol syndrome have an atrial septal defect or ventricular septal defect.
• Rubella infection — if you had rubella during the first few months of pregnancy, your child is at higher risk for developing a heart defect.
• Gender — women are more likely to develop an atrial septal defect.

Symptoms of atrial septal defect

Many people with minor atrial septal defects don’t experience symptoms. If undiagnosed into adulthood, patients between ages 30 - 50 may notice symptoms such as:

• Shortness of breath
• Heart palpitations
• Fatigue
• Swelling in the legs, feet and abdomen
• Heart murmurs

Diagnosis of atrial septal defect

Atrial septal defects can be diagnosed with the following diagnostic tests:

• Chest x-ray — can take pictures of the heart and lungs to determine if the heart is enlarged or if there is fluid in the lungs.
• Transthoracic echocardiogram (echo) with Doppler ultrasound (TTE) — most frequently used diagnostic test to diagnose an atrial septal defect using sound waves to map the heart to identify heart abnormalities.
• Electrocardiogram (ECG or EKG) — can graph your heartbeat by measuring the electrical impulses.

Treatments for atrial septal defects

Surgical repair with open heart surgery

Some types of atrial septal defects such as primum, sinus venosus and coronary sinus must be repaired with open heart surgery. Open heart surgery is an invasive procedure that requires a large incision in the chest. The cardiothoracic surgeon will close the hole using patches. The heart tissue will then grow around the repair to close the hole permanently. Following surgery, the doctors may use various imaging modalities to ensure the repaired area is functioning correctly.

Cardiac catheterization (coronary angiogram)

During a cardiac catheterization (also known as a cardiac cath) procedure, your cardiologist will insert a catheter into the blood vessel from the groin or arm and guide it to your heart. When the doctor gets to the correct location in the heart, he or she will close the hole using a mesh patch. Heart tissue will grow around the patch to permanently seal the hole.