Background

Ebstein anomaly is a rare congenital heart defect that affects the tricuspid valve, which is the valve that separates the right atrium (upper chamber) from the right ventricle (lower chamber) of the heart. This condition is named after Wilhelm Ebstein, a German doctor who first described it in 1866. 

In individuals with Ebstein anomaly, the tricuspid valve is abnormally formed and positioned. The valve is displaced downward into the right ventricle, causing a portion of the right ventricle to be incorporated into the right atrium. This malformation can lead to regurgitation (backward flow) of blood from the right ventricle to the right atrium. 

The right atrium is enlarged due to the displacement of the tricuspid valve. This enlargement can affect the heart’s ability to pump blood efficiently. The right ventricle may be smaller than normal and may not function properly. This can result in reduced pumping capacity and, in severe cases, heart failure. 

Epidemiology

There is a slight female predominance, with the anomaly being more common in females than in males. Familial clustering has been reported, and there may be a higher risk of Ebstein anomaly in individuals with a family history of congenital heart disease. 

Ebstein anomaly can occur as an isolated defect, but it is also known to be associated with other congenital heart abnormalities. The presence of additional cardiac anomalies may influence the clinical presentation and management of the condition. 

Anatomy

Pathophysiology

The tricuspid valve is abnormally formed and positioned in individuals with Ebstein anomaly. Instead of being located at its normal position between the right atrium and right ventricle, the tricuspid valve is displaced downward into the right ventricle.  

The displacement of the tricuspid valve leads to an enlargement of the right atrium. This occurs because the valve leaflets are positioned lower than normal, causing a part of the right atrium to become dilated. The enlarged right atrium may compromise its ability to contract effectively. 

The right ventricle is often smaller than normal and may not function properly. The abnormal positioning of the tricuspid valve can lead to a reduction in the effective pumping capacity of the right ventricle. In severe cases, this can result in heart failure. 

Etiology

Teratogens are substances that can cause birth defects when a fetus is exposed to them during pregnancy.  

Ebstein anomaly can be associated with certain genetic syndromes and certain chromosomal abnormalities. In these cases, the presence of Ebstein anomaly is often part of a more complex pattern of congenital anomalies. 

Genetics

Prognostic Factors

The size and function of the right ventricle play a crucial role in determining prognosis. If the right ventricle is severely affected and unable to pump blood effectively, it can lead to heart failure and a poorer prognosis. 

Cyanosis, a bluish discoloration of the skin and mucous membranes, may occur in individuals with significant right-to-left shunting of blood. The presence and degree of cyanosis can impact prognosis, as it indicates the mixing of oxygenated and deoxygenated blood. 

Clinical History

Age Group:  

Ebstein anomaly is a congenital heart defect, meaning it is present from birth. The diagnosis is often made during infancy or childhood, but it can sometimes be identified during fetal development through prenatal screening.  

The age group affected by Ebstein anomaly spans from the prenatal period through adulthood. The timing of diagnosis and the severity of the anomaly can vary widely among individuals.  

Physical Examination

• Palpation: Assess the location and character of the apical impulse, which may be displaced due to the enlargement of the right atrium. 
• Heart Sounds: Listen for abnormal heart sounds, such as a widely split first heart sound (S1) and a fixed or paradoxically split-second heart sound (S2).  
• Peripheral Examination: Chronic cyanosis can lead to clubbing of the fingers and toes. 
• Pulmonary Examination: Assess for signs of respiratory distress, increased respiratory rate, or use of accessory muscles, which may indicate pulmonary involvement. 

Age group

Associated comorbidity

Atrial septal defect is a congenital heart defect where there is an abnormal opening in the wall (septum) between the two upper chambers of the heart (atria). 

Ventricular septal defect is a congenital heart defect involving a hole in the wall (septum) between the two lower chambers of the heart (ventricles). Some individuals with Ebstein anomaly may also have VSDs. 

A patent foramen ovale is a small opening in the septum between the atria. It is a remnant of fetal circulation that may persist into adulthood and can be associated with Ebstein anomaly. 

Individuals with Ebstein anomaly are at an increased risk of developing arrhythmias (irregular heart rhythms) due to abnormalities in the electrical conduction system of the heart. 

Associated activity

Acuity of presentation

Children with Ebstein anomaly may present with symptoms such as fatigue, poor growth, exercise intolerance, and respiratory issues. The severity of symptoms can vary, and some children may remain relatively asymptomatic. 

As individuals with Ebstein anomaly reach adolescence and adulthood, they may become more aware of symptoms related to exercise intolerance, palpitations, arrhythmias, and shortness of breath.  

Differential Diagnoses

• Tricuspid Valve Dysplasia: This is a rare congenital heart defect that, like Ebstein anomaly, involves abnormalities in the tricuspid valve.  
• Pulmonary Stenosis: Pulmonary stenosis is a condition characterized by narrowing of the pulmonary valve, which can lead to obstruction of blood flow from the right ventricle to the pulmonary artery. While it is a distinct condition, it may share some features with Ebstein anomaly. 
• Atrial Septal Defect (ASD): ASD is a congenital heart defect involving an abnormal opening in the wall between the two upper chambers of the heart (atria).  
• Ventricular Septal Defect (VSD): VSD is a congenital heart defect characterized by a hole in the wall between the two lower chambers of the heart (ventricles).  
• Pulmonary Hypertension: Conditions leading to pulmonary hypertension can present with symptoms like those seen in Ebstein anomaly, such as shortness of breath and exercise intolerance. 

Laboratory Studies

Imaging Studies

Procedures

Histologic Findings

Staging

Treatment Paradigm

• Observation and Monitoring: Individuals with Ebstein anomaly require regular follow-up with a cardiologist to monitor the progression of the condition, assess symptoms, and adjust the treatment plan as needed. 
• Pregnancy Management: For women with Ebstein anomaly, careful monitoring, and coordination with a multidisciplinary team, including obstetricians and cardiologists, are essential during pregnancy to manage potential risks. 
• Lifestyle Considerations: The level of physical activity allowed depends on the individual’s clinical status.  

by Stage

by Modality

Chemotherapy

Radiation Therapy

Surgical Interventions

Hormone Therapy

Immunotherapy

Hyperthermia

Photodynamic Therapy

Stem Cell Transplant

Targeted Therapy

Palliative Care

use-of-non-pharmacological-approach-for-ebstein-anomaly

• Physical Activity: The level of physical activity that is safe for individuals with Ebstein anomaly may vary.  
• Pregnancy and Family Planning: For women with Ebstein anomaly, preconception counseling is important to discuss potential risks and plan for a healthy pregnancy. 
• Close Monitoring During Pregnancy: Pregnant women with Ebstein anomaly require close monitoring by a multidisciplinary team, including obstetricians and cardiologists, to manage potential risks and ensure the well-being of both the mother and the fetus. 
• Avoiding Extreme Temperatures: Extreme temperatures, especially heat, may affect cardiac function. Individuals with Ebstein anomaly should be cautious in extreme weather conditions and stay hydrated. 
• Regular Follow-up Care: Regular follow-up with a cardiologist is crucial to monitor the progression of the condition, assess for any changes, and adjust the treatment plan as needed. 

Use of Diuretics

Diuretics help reduce fluid retention and alleviate symptoms of heart failure, such as edema and shortness of breath. 

• Furosemide: The role of furosemide is primarily related to its diuretic effects, which help reduce fluid overload and alleviate symptoms associated with heart failure.  

Use of Beta-Blockers

Beta-blockers can help control heart rate, reduce arrhythmias, and improve overall cardiac function. 

• Metoprolol: It is a beta-blocker, reduces the heart rate and myocardial contractility, thereby decreasing the heart’s oxygen demand.  

By reducing the workload on the heart, metoprolol may contribute to improved cardiac efficiency, especially in cases where there is compromised cardiac function. 

Use of antiarrhythmic agents

• Amiodarone: Amiodarone is an antiarrhythmic medication that may be used to manage and control certain types of arrhythmias in individuals with Ebstein anomaly. 

Use of Inotropic Agents

Digoxin: Digoxin is a medication that may be used to enhance the force of the heart’s contractions. It can be considered in cases where there is impaired cardiac function. 

use-of-intervention-with-a-procedure-in-treating-ebstein-anomaly

• Tricuspid Valve Repair or Replacement: Severe tricuspid valve dysfunction is a common feature of Ebstein anomaly, and surgical repair or replacement of the tricuspid valve may be necessary. di 
• Catheter Ablation: Individuals with Ebstein anomaly may experience arrhythmias, and catheter ablation may be considered to treat and manage abnormal electrical pathways within the heart. 
• Device Implantation: Implantable devices, such as pacemakers or implantable cardioverter-defibrillators (ICDs), may be recommended for individuals with specific arrhythmias or conduction abnormalities. 

use-of-phases-in-managing-ebstein-anomaly

• Assessment of Symptoms: The management begins with a thorough assessment of symptoms, if present, such as shortness of breath, fatigue, or arrhythmias. 
• Pregnancy Management: Close monitoring by a multidisciplinary team, including obstetricians and cardiologists, is crucial during pregnancy to manage potential risks. 
• Regular Check-ups: Lifelong follow-up with a cardiologist or a congenital heart disease specialist is recommended to monitor for any changes in the condition and assess the effectiveness of interventions. 

Medication

Future Trends

Media Gallary

References

Ebstein’s Anomaly – PMC (nih.gov) 

Ebstein’s Anomaly | Circulation (ahajournals.org)