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Ebstein Anomaly - Symptoms, Causes, Diagnosis, and Treatment

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Ebstein anomaly affects the heart and presents at birth. This article explains the condition in detail.

Medically reviewed by

Dr. Muhammad Zohaib Siddiq

Published At November 2, 2022
Reviewed AtNovember 2, 2022

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:

  • Fatigue or tiredness.

  • Shortness of breath, especially during exertion.

  • Arrhythmias (abnormal heart rhythms).

  • Tachycardia (increased heart rate or palpitations).

  • 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:

  • Echocardiogram - This test utilizes sound waves to develop detailed images of the heart. Sometimes, a transesophageal echocardiogram can also be done.

  • Electrocardiogram - Sensors are attached to the patient's chest and limbs to assess the heartbeat's timing and duration.

  • 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.

  • 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.

  • Cardiac MRI - This utilizes magnetic fields and radio waves to form detailed heart images.

  • Pulse Oximetry - This test helps measure the amount of oxygen in the blood using a sensor attached to the finger or toe.

  • 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.

  • Electrophysiology Study - This test helps in assessing the impulses of the heart.

  • 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:

  • 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.

  • 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.

  • 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:

  • Tricuspid Valve Repair: In this, the size of the valve opening is reduced to allow the valve leaflets to work properly.

  • 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.

  • 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).

  • Maze Procedure: It is performed in cases with fast heart rhythms.

  • Radiofrequency Catheter Ablation: In cases with fast or abnormal heart rhythms, this procedure is performed.

  • 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:

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.

Frequently Asked Questions

1.

How Quickly Can Ebstein’s Anomaly Be Identified?

The tricuspid valve is affected by Ebstein's anomaly, a rare congenital heart defect., which connects the right atrium to the right ventricle. The severity varies, with some causing symptoms and others not. Routine fetal ultrasound screening can usually detect Ebstein's anomaly during pregnancy. This usually occurs between the ages of 18 and 20 weeks of pregnancy. During the ultrasound, the doctor will evaluate the structure and function of the fetal heart and look for any abnormalities, including Ebstein's anomaly.

2.

What Exactly Is the Ebstein Abnormality?

Ebstein's abnormality is an unusually severe heart abnormality in which the tricuspid valve is not formed properly at birth., which connects the right atrium to the right ventricle, is malformed and does not function normally. This can result in blood flowing back into the right atrium, causing symptoms and complications ranging from mild to severe.

3.

Is Ebstein’s Anomaly Dangerous?

Ebstein's anomaly can be hazardous, especially in severe cases. The tricuspid valve malformation can cause blood to flow back into the right atrium, resulting in decreased oxygen levels and an increased risk of heart failure. Arrhythmias (irregular heartbeats) and other complications, such as blood clots and stroke, can also result. However, the severity of the condition varies, and some people with Ebstein's anomaly may have no or only mild symptoms. Treatment will differ based on the severity of the condition. Options may include medication, surgery, or both.

4.

Is Ebstein’s Anomaly Genetically Determined?

Evidence suggests that Ebstein's anomaly can be genetically determined in some cases. While most cases of Ebstein's anomaly occur sporadically, without a known cause, there are some families where the condition appears to be inherited. Mutations in certain genes have been associated with Ebstein's anomaly, and family members of affected individuals may be at an increased risk of having the condition themselves. However, the inheritance pattern can be complex and may follow a different pattern. Therefore, discussing any concerns about the genetic implications of Ebstein's anomaly with a healthcare provider or genetic counselor is important.

5.

How Long Do Ebstein’s Anomaly Patients Live?

Patients with Ebstein's anomaly have a variable life expectancy depending on the severity of the condition and whether it is associated with other heart defects or health conditions. Many people with Ebstein's anomaly can live into adulthood and have a normal lifespan with proper medical management, medication, and surgery as needed. However, in severe cases, Ebstein's anomaly can cause heart failure or other complications that can shorten one's life.

6.

What Factors Could Contribute to Tricuspid Regurgitation?

Ebstein's anomaly, pulmonary hypertension, rheumatic heart disease, infective endocarditis, heart attacks, and other causes of heart muscle damage can all contribute to tricuspid regurgitation.

7.

Is the Ebstein Anomaly a Physical Disability?

Ebstein's anomaly is a medical condition that affects heart function but is not always considered a physical disability. The condition's impact on an individual's physical abilities varies depending on the severity of the condition and the presence of any associated complications. Some people with Ebstein's anomaly have no or only mild symptoms, while others have significant limitations in their physical abilities. However, whether or not the condition is considered a disability will be determined by an individual's specific circumstances and the criteria used to define disability in a given context.

8.

How Common Is Ebstein’s Anomaly in Newborns?

Ebstein's anomaly is a rare congenital heart defect that affects about one in every 20,000 live births. It is more common in women and frequently occurs sporadically, with no known cause. However, there may be a family history of the condition or a genetic predisposition in some cases.

9.

Is the Ebstein Anomaly Harmful to Pregnancy?

Ebstein's anomaly can harm the pregnancy, especially in more severe cases. The tricuspid valve malformation can cause blood to flow back into the right atrium, lowering oxygen levels in the body and increasing the risk of heart failure, arrhythmias, and other complications. Pregnant women with Ebstein's anomaly are more likely to experience heart failure, pulmonary hypertension, and other pregnancy complications, especially if they have severe symptoms or associated heart defects. Nevertheless, many women with Ebstein's anomaly can have successful pregnancies and deliveries with proper medical management and monitoring. 

10.

What Medications Can Cause Ebstein Anomaly?

Lithium exposure during pregnancy has been linked to an increased risk of Ebstein's anomaly in the developing fetus. Although other medications have not been definitively linked to the development of Ebstein's anomaly, certain drugs, such as amphetamines and cocaine, can harm the developing fetus and increase the risk of congenital heart defects, including Ebstein's anomaly. Therefore, pregnant women should discuss the risks and benefits of any medications with their healthcare provider.

11.

Is Ebstein’s a Fetal Anomaly?

Ebstein's anomaly is a congenital heart defect that exists from birth. It is usually diagnosed in childhood or adolescence, but in some cases, it can be detected during fetal development using prenatal screening, such as a fetal echocardiogram. If the anomaly is discovered during pregnancy, healthcare providers can monitor the developing fetus and plan for appropriate medical care after birth.

12.

On Which Side of the Heart Is the Tricuspid Valve Located?

The tricuspid valve is on the right side of the heart, between the right atrium and the right ventricle. It separates the two chambers and prevents blood from flowing back into the right atrium during heart contraction.

13.

Does a Single Ventricle characterize Ebstein’s Anomaly?

A single ventricle does not usually characterize Ebstein's anomaly. It is, instead, a defect affecting the tricuspid valve and the right ventricle. The tricuspid valve is abnormal and displaced in Ebstein's anomaly, causing the right ventricle to enlarge and weaken. Individuals with Ebstein's anomaly may have other heart defects that affect the function of the ventricles in some cases, but this is not a defining feature of the condition.

14.

What Is the Term for a Hole in the Heart?

Depending on where the hole is in the heart, it is referred to as an "atrial septal defect" (ASD) or a "ventricular septal defect" (VSD). For example, a hole in the wall between the heart's two upper chambers (the atria) is an atrial septal defect. In contrast, a hole in the wall between the two lower chambers is known as a ventricular septal defect (the ventricles). These defects can result in abnormal blood flow and may necessitate medical attention.
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Dr. Muhammad Zohaib Siddiq
Dr. Muhammad Zohaib Siddiq

Cardiology

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