Introduction
Ebstein anomaly is a rare clinical condition causing a defect in the heart that presents at birth. The tricuspid valve is developed in the wrong position in this condition, and the valve flaps are malformed. Hence, the functions of the valve are affected. This condition may also lead to enlargement of the heart and heart failure. Asymptomatic patients require regular follow-up, whereas those who show signs and symptoms may require treatment.
What Are the Signs and Symptoms?
Mild forms of Ebstein anomaly may not cause symptoms in the early stages. It might show symptoms later in adulthood.
Following are the signs and symptoms that the patient can experience:
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Fatigue or tiredness.
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Shortness of breath, especially during exertion.
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Arrhythmias (abnormal heart rhythms).
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Tachycardia (increased heart rate or palpitations).
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Cyanosis: A bluish discoloration of the lips and mucous membrane or skin caused due to decreased oxygen.
How Is It Caused?
It is a congenital condition, and the cause is unknown. The possible mechanism for this condition has been explained below:
The tricuspid valve is located normally between the two right heart chambers. In the Ebstein anomaly, the tricuspid valve is situated lower than normal in the right ventricle. This leads to the enlargement of the right atrium, and the functions are also affected. Also, the leaflets of the tricuspid valve are abnormally formed. This can lead to the backward leaking of blood into the right atrium. Other heart conditions associated with the Ebstein anomaly are holes in the heart, abnormal heartbeats (arrhythmias), and Wolff-Parkinson-White (WPW) syndrome.
Are There Any Risk factors?
Congenital heart defects like the Ebstein anomaly develop during the baby's heart formation in the mother's womb. No studies are related to assuring the risk factors associated with the defect. Physicians suspect the role of genetics and environment. Also, if the patient has a family history of heart defects or a mother uses certain medications, like lithium, during pregnancy, it can increase the risk of an Ebstein anomaly in the child.
How Can It Be Diagnosed?
When a person visits the physician, he will be asked various questions related to his family history, medical history during pregnancy, and signs and symptoms in the baby after it is born. If there are no signs or symptoms of heart issues, the physician may perform a physical examination to check for abnormal heart sounds. Abnormal heart sounds like a heart murmur should not always be considered a cause for concern. However, the physician may recommend visiting a cardiologist to confirm the diagnosis. The doctor may also ask for certain tests as the following:
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Echocardiogram - This test utilizes sound waves to develop detailed images of the heart. Sometimes, a transesophageal echocardiogram can also be done.
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Electrocardiogram - Sensors are attached to the patient's chest and limbs to assess the heartbeat's timing and duration.
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Holter Monitor - The patient can wear a portable ECG device while away from the hospital. It helps record the heart's electrical activity during daily activities for a day or two.
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Chest X-ray - A chest X-ray shows the heart, lungs, and blood vessels. It can help the doctor in diagnosing any enlargement of the heart.
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Cardiac MRI - This utilizes magnetic fields and radio waves to form detailed heart images.
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Pulse Oximetry - This test helps measure the amount of oxygen in the blood using a sensor attached to the finger or toe.
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Exercise Stress Test - The blood pressure, heart rate, rhythm, and breathing are assessed in this test when a person walks on a treadmill or rides a stationary bicycle.
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Electrophysiology Study - This test helps in assessing the impulses of the heart.
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Cardiac Catheterization - A long catheter is inserted into a blood vessel in the arm, groin, or neck and guided to the heart with the help of X-ray imaging.
How Can It Be Treated?
The management of the Ebstein anomaly is based on the severity of the defect and the signs and symptoms. The main aim of treatment is to decrease the symptoms and avoid any future complications like arrhythmias and heart failure. The following are the management methods:
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Regular Monitoring - If the patient has no signs, symptoms, or abnormal heart rhythms, the physician may recommend regular follow-ups to monitor the heart condition.
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Medications - Medications can help control the heart rate and maintain normal heart rhythm in patients with disturbances in their heart rhythm. The physician may also prescribe diuretics to ease the signs and symptoms of heart failure or any heart defects. Medicines can be prescribed to prevent a blood clot in patients with atrial septal defects. Nitric oxide is also given in a few children through an inhalational route to improve blood flow to the lungs.
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Surgery - Surgery may be recommended for patients with symptoms affecting their quality of life. Also, patients showing signs of heart enlargement and decreased heart function may require surgery.
Following are the various surgical procedures that can be performed:
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Tricuspid Valve Repair: In this, the size of the valve opening is reduced to allow the valve leaflets to work properly.
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Tricuspid Valve Replacement: If repairing the valve is difficult, the surgeon will suggest removing it and replacing it with either a biological or mechanical valve.
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Closure of the Atrial Septal Defect: Repairing or replacing the heart valve can be suggested in cases with an atrial septal defect (hole between the heart's upper chambers).
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Maze Procedure: It is performed in cases with fast heart rhythms.
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Radiofrequency Catheter Ablation: In cases with fast or abnormal heart rhythms, this procedure is performed.
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Heart Transplantation: A heart transplant may be required in severe cases of Ebstein anomaly and poor heart function.
Are There Any Complications?
Mild cases of Ebstein anomaly may not cause any complications. However, the following are the possible complications:
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Sudden cardiac arrest.
A person can take a few precautions before playing sports or planning pregnancy to prevent complications. People should talk to their physician before planning a pregnancy. Most of the mild cases do not show any complications during pregnancy. However, pregnancy, labor, and delivery can stress the heart more. Rarely, severe complications can occur, which can lead to the death of the mother or baby.
Conclusion
Ebstein anomaly is a congenital defect of the heart. It can be managed based on the severity and extent of the condition. People can consult a specialist online through online medical platforms to know more about this condition.