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Atrial Septal Defect (page 2)

The Nemours Foundation

Causes

ASDs occur during fetal development of the heart and are present at birth. During the first weeks after conception, the heart develops. If a problem occurs during this process, a hole in the atrial septum may result.

In some cases, the tendency to develop a ASD might be genetic. Genetic syndromes can cause extra or missing pieces of chromosomes that can be associated with ASD. For the vast majority of children with a defect, however, there's no clear cause.

Signs and Symptoms

The size of an ASD and its location in the heart will determine what kinds of symptoms a child experiences. Most kids who have ASDs seem healthy and appear to have no symptoms. Generally, they feel well and grow and gain weight normally.

Children with larger, more severe ASDs, however, might have some of these signs or symptoms:

  • poor appetite
  • poor growth
  • fatigue
  • shortness of breath
  • lung problems and infections, such as pneumonia

If an ASD is not treated, health complications can develop later, including an abnormal heart rhythm (known as an atrial arrhythmia) and problems with how well the heart pumps blood. As kids with ASDs get older, they also might be at an increased risk for stroke, since a blood clot that develops can pass through the hole in the wall between the atria and travel to the brain. Pulmonary hypertension (high blood pressure in the lungs) also can develop over time in older patients with larger untreated ASDs.

Fortunately, most kids with ASD are diagnosed and treated long before the heart defect causes physical symptoms. Because of the complications that ASDs can cause later in life, pediatric cardiologists often recommend closing ASDs early in childhood.

Diagnosis

Generally, a child's doctor hears the heart murmur caused by ASD during a routine checkup or physical examination. ASDs are not always diagnosed as early in life as other types of heart problems, such as ventricular septal defect (a hole in the wall between the two ventricles). The murmur caused by an ASD is not as loud and can be harder to hear than other types of heart murmurs, so it may be diagnosed any time between infancy and adolescence (or even as late as adulthood).

If a doctor hears a murmur and suspects a heart defect, the child may be referred to a pediatric cardiologist (a doctor who specializes in diagnosing and treating childhood heart conditions). If an ASD is suspected, the cardiologist might order one or more of the following tests:

  • chest X-ray, which produces an image of the heart and surrounding organs
  • electrocardiogram (EKG), which records the electrical activity of the heart and can indicate volume overload of the right side of the heart
  • echocardiogram (echo), which uses sound waves to produce a picture of the heart and to visualize blood flow through the heart chambers. This is often the primary tool used to diagnose an ASD.
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