DiGeorge Syndrome (22q11.2 deletion syndrome)

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic condition that can affect many parts of your body and causes heart abnormalities, an impaired immune system and developmental delays. If you’re diagnosed with DiGeorge syndrome, you’re missing a small piece of chromosome 22. Symptoms of DiGeorge syndrome can range from mild to severe. The most severe symptoms can be life-threatening.

Who does DiGeorge syndrome affect?

DiGeorge syndrome (22q11.2 deletion syndrome) can affect anyone since 90% of cases occur as a result of a random deletion on chromosome 22. This happens when the egg and sperm meet in the early stages of fetal development. The rate of occurrence is unpredictable. This condition isn’t caused by something the parents did before or during pregnancy.

In 10% of cases, some people can inherit 22q11.2 deletion syndrome from one parent who has the condition (autosomal dominant). Only one copy of the chromosome from one parent is necessary for the child to inherit the condition.

How common is DiGeorge syndrome?

DiGeorge syndrome isn’t common. About 1 in 4,000 people in the U.S. receive a 22q11.2 deletion syndrome diagnosis annually. Some studies suggest that this estimate could be more common since the condition is underdiagnosed.

Symptoms

When to see a doctor

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Complications

Blood clots are a dangerous complication of atrial fibrillation (AFib). Blood clots can lead to stroke.

The risk of stroke from AFib increases as you grow older. Other health conditions also may increase the risk of a stroke due to AFib. These conditions include:

High blood pressure.
Diabetes.
Heart failure.
Some types of heart valve disease.

Blood thinners are commonly prescribed to prevent blood clots and strokes in people with atrial fibrillation.

Prevention

Healthy lifestyle choices can reduce the risk of heart disease and may prevent atrial fibrillation (AFib). Here are some basic heart-healthy tips:

Control high blood pressure, high cholesterol and diabetes.
Don't smoke or use tobacco.
Eat a diet that's low in salt and saturated fat.
Exercise at least 30 minutes a day on most days of the week unless your health care team says not to.
Get good sleep. Adults should aim for 7 to 9 hours daily.
Maintain a healthy weight.
Reduce and manage stress.

By Freedmans Health Clinic Staff

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