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Atrial Septal Defect (ASD)

Overview

An atrial septal defect (ASD) is a hole in the wall between the two upper chambers of the heart and this condition is present from birth (congenital).

Small atrial septal defects usually close on their own during infancy or early childhood whereas large and long-standing atrial septal defects can cause damage to the heart and lungs. An undetected atrial septal defect in an adult for many years results in a shortened life span as a consequence of heart failure or high blood pressure in the lungs. Surgery is most often mandatory to repair atrial septal defects to prevent complications.

Symptoms

Many babies born with atrial septal defects do not show any signs or symptoms. Adults start showing symptoms usually by 30 years of age, but in some cases signs and symptoms are not noticed until decades later.

Atrial septal defect symptoms include:

  • Heart murmur (a whooshing sound) that can be heard through a stethoscope
  • Shortness of breath, especially on exertion
  • Fatigue
  • Edema of legs, feet or abdomen
  • Heart palpitations or skipped beats
  • Frequent lung infections
  • Stroke
  • Cyanosis (bluish skin colour)

Causes

It is well known that congenital heart defects arise from errors early in the heart's development, but the cause is not clear. Genetics and environmental factors are important factors.

An atrial septal defect allows freshly oxygenated blood to flow from the left atrium (left upper chamber of the heart) into the right atrium (right upper chamber of the heart). In the right atrium it mixes with deoxygenated blood and is pumped to the lungs, even though it is already refreshed with oxygen. In cases where the atrial septal defect is large, the extra blood volume can overfill the lungs and overwork the heart. If this defect is not treated, the right side of the heart eventually enlarges and becomes weak. In some cases, the blood pressure in the lungs increases leading to pulmonary hypertension.

Risk Factors

There is no explanation as to why atrial septal defects occur, but congenital heart defects appear to be heredity and sometimes occur along with other genetic problems namely Down syndrome.

The following conditions when seen during pregnancy can increase the risk of the baby having heart defects:

  • Rubella (German measles) : If the mother has rubella during pregnancy, it can increase the risk of foetal heart defects.
  • Alcohol use or drug use or substance abuse (cocaine), during pregnancy can harm the developing foetus.

Complications

A small atrial septal defect usually never causes any problems. These small atrial septal defects often close during infancy.

Larger atrial septal defects tend to cause mild to life-threatening problems, including:

  • Right-sided heart failure
  • Heart rhythm abnormalities
  • Shortened life expectancy
  • Increased risk of a stroke

The other serious complications that are less common may include:

  • Pulmonary hypertension : If a large atrial septal defect is untreated there is increased blood flow to the lungs, which increases the blood pressure in the lung arteries. In some rare cases, pulmonary hypertension can cause permanent lung damage which becomes irreversible. This complication is referred to as Eisenmenger syndrome. This syndrome usually develops over many years and occurs only in a small percentage of people with large atrial septal defects.
  • Atrial septal defect and pregnancy : Most women with an atrial septal defect can handle pregnancy without any complications. However, if there is a larger defect or other complications such as heart failure, arrhythmias or pulmonary hypertension are present, then there is an increased risk of complications during pregnancy. Women with Eisenmenger syndrome are strongly advised not to become pregnant because it can endanger the woman's life.
  • Couples who want to start a family, where either one has congenital heart defects should carefully discuss it beforehand with a doctor. Medication changes may need to be made before one becomes pregnant because they can cause serious problems for a developing foetus.