Ebstein’s Anomaly

With many heart defects, at least some of the causes and risk factors are areas we have control over. Elements like diet, exercise, and stress levels are all things we can manage, and healthy habits can reduce the risk of many heart complications.

In some cases, though, heart issues are present from birth. These types of conditions are known as congenital birth defects.

A primary example of a congenital heart disease is called Ebstein’s anomaly. This occurs when the valve connecting the two chambers on the right side of the heart has a defect and doesn’t work correctly. Blood doesn’t flow the way it should between the chambers, and this can damage your heart’s functionality. In extreme cases, Ebstein’s anomaly can lead to heart failure.

Symptoms

Symptoms, and the times they present themselves, vary from case to case. Ebstein’s anomaly is a birth defect, but it often doesn’t show symptoms until a later age. For either children or adults who are showing symptoms, some of the most common include:

• Tiredness
• Coughing
• Difficulty breathing and shortness of breath, or rapid breathing
• Blue lips or fingertips (caused by lack of oxygen in the bloodstream)
• Abnormal heartbeat (also called heart arrhythmias)

If any of these last three symptoms become regular, contact your doctor.  Tiredness or coughing alone could be a symptom of many things, but you can narrow it down if paired with any of the other symptoms we mentioned. Causes and risk factors for Ebstein’s anomaly aren’t certain, but doctors are fairly confident that it involves standard genetic and environmental factors. Family history might lead to higher risk, as well as certain medications mothers take while pregnant. None of these areas has been proven as a direct cause, however.

Complications

In many cases, Ebstein’s anomaly is minor and patients don’t have to deal with frequent complications. Some people notice no symptoms at all for their entire life, in fact.

When issues do come up, though, they’re generally in a few specific areas:

• • Heart failure and heart rhythm problems
• Sudden heart attack or stroke (rare)
• Problems during physical activity – some cases will need doctor’s approval for certain kinds of exercise
• Pregnancy risks – pregnancy puts a lot of pressure on the body, including the heart, and certain severe cases might put women at risk if they become pregnant

Tests

There are several different tests which can potentially diagnose Ebstein’s anomaly and similar heart conditions:

• Chest X-ray
• Heart MRI (magnetic resonance imaging)
• Electrocardiogram (ECG) – detects changes in heart rhythm
• Echocardiogram – uses sound waves to diagnose structure of heart
• Heart ultrasound
• Pulse oximetry – measures amount of oxygen in your blood
• Exercise stress test

Several of these tests look for common symptoms or complications, but diagnosis is possible as well.

Treatment

Like many heart conditions, there is no true cure for Ebstein’s anomaly. Treatment can reduce or even eliminate symptoms in most cases, though, and managing the condition is possible.  A few common approaches include:

Medication: This helps control heart beat and/or addresses certain symptoms of Ebstein’s anomaly. In some cases, medications are needed from birth, but in many others they aren’t needed until symptoms show up.

Surgery: Some cases of Ebstein’s anomaly come with more severe symptoms, and surgery is sometimes recommended. There are a few different types of surgery, and they differ in which symptoms they’re best for addressing. A doctor will make the decision about which form of surgery is best.

Transplant: In extreme cases, a heart transplant might be needed.

Radiofrequency catheter ablation: This procedure involves feeding catheters through blood vessels that use radio frequencies to shock the heart.

Monitoring: Many people are diagnosed with Ebstein’s anomaly at birth but show no symptoms for many years. For these people, all that’s needed is regular checkups to make sure nothing strange is happening.

Ebstein’s anomaly is closely related to several other heart conditions, and doctors will also usually check for these (or vice versa – sometimes others are noticeable before Ebstein’s anomaly).

Revere Health Cardiologists are among some of the top cardiology providers in Utah and the Nation.

 

Sources:

• “Ebstein’s anomaly.” The Mayo Clinic. http://www.mayoclinic.org/diseases-conditions/ebsteins-anomaly/home/ovc-20199183
• “Ebstein’s anomaly in children.” Boston Children’s Hospital. http://www.childrenshospital.org/conditions-and-treatments/conditions/ebsteins-anomaly