Overview
Ebstein anomaly is a rare heart condition that is present at birth (congenital). It occurs when the tricuspid valve, which separates the top and bottom right heart chambers, does not form correctly. As a result, the valve does not close properly, causing blood to move backward from the bottom to the top chamber, making it harder for the heart to function. This can cause the heart to grow larger and may lead to heart failure. The severity of symptoms can vary, with some people showing no symptoms while others experience severe symptoms. Treatment depends on the symptoms and may include regular health checkups, medications, and surgery.
Understanding the disease
Symptoms
Symptoms of Ebstein anomaly may include:
- Blue or gray lips or fingernails.
- Fatigue.
- Feeling of a pounding or rapid heartbeat or irregular heartbeats.
- Shortness of breath, especially with activity. These symptoms can vary in severity and may not be present in all cases. Some people with mild Ebstein anomaly may have few or no symptoms. However, in more severe cases, the condition can lead to heart failure, irregular heartbeats, and other complications. If you or your baby have symptoms of heart problems, such as feeling short of breath or easily tired with little activity, irregular heartbeats, or blue or gray skin, it is essential to seek medical attention.
Risk Factors
The risk factors for developing Ebstein anomaly, a heart condition present at birth, are not completely understood. It's believed that both genetic and environmental factors play a role. The exact cause of Ebstein anomaly is unknown. Some factors that might increase the risk of developing Ebstein anomaly include:
- Genetics: The condition may have a genetic component, although specific genes responsible for the development of the condition have not been identified.
- Environmental factors: Exposure to certain medications during pregnancy, such as lithium, might increase the risk of Ebstein anomaly in the child. Since the exact cause of Ebstein anomaly is not known, it's important for healthcare providers to monitor pregnancies closely and provide appropriate care to minimize potential risks and complications for both the mother and the baby.
Assessment and Diagnosis
Triage
You should see a doctor if you or your baby have symptoms of heart problems, including feeling short of breath or easily tired with little activity, irregular heartbeats, or blue or gray skin. If Ebstein anomaly is suspected, a healthcare provider may refer you to a cardiologist for further evaluation and treatment.
Diagnosis
The healthcare provider diagnoses Ebstein anomaly primarily through a physical examination and by listening to the heart and lungs. If a person has Ebstein anomaly, the care provider may hear a heart sound called a murmur. In some cases, children with severe Ebstein anomaly may have blue or gray skin due to low blood oxygen levels. To help diagnose Ebstein anomaly, various tests are conducted, including pulse oximetry, echocardiogram, and electrocardiogram (ECG or EKG). If the condition is not causing irregular heartbeats or other symptoms, regular checkups and imaging tests to check the heart are recommended. Medications, surgery, or other procedures may be recommended based on the severity of the heart problem and the symptoms.
Management and Treatment
Complications
Possible complications of Ebstein anomaly include irregular heartbeats, heart failure, sudden cardiac arrest, and stroke. People with severe symptoms may require medications and surgery. Pregnant women with Ebstein anomaly may experience additional health concerns for themselves and their babies due to the extra strain on the heart during pregnancy, labor, and delivery.
Treatment
Treatment for Ebstein anomaly depends on the severity of the condition and the presence of symptoms. For some people with mild Ebstein anomaly who have no symptoms, regular health checkups may be enough. However, those with more severe symptoms may require medications and surgery. Medications can help manage heart rhythm and prevent blood clots, while surgery can repair or replace the tricuspid valve. Some people may also need devices such as pacemakers or implantable cardioverter-defibrillators (ICDs) to help regulate their heart rhythm. It's important to consult with a healthcare professional for personalized treatment recommendations.
Preparing for medical consultation
To prepare for an appointment for Eisenmenger syndrome, follow these steps:
- Make note of any previous heart treatments, including medications, surgeries, or procedures you've received for a heart problem.
- Be aware of any pre-appointment restrictions. When you make the appointment, ask whether there's anything you need to do in advance, such as fill out forms or restrict your diet.
- Write down any symptoms you've experienced, including those that may seem unrelated to Eisenmenger syndrome. Try to recall when they began, using specific timeframes like days, weeks, and months. Remember to bring this information with you to your appointment and don't hesitate to ask your healthcare provider any questions you may have about your condition or treatment options.