Patients vary from neonates to severely ill adults at time of presentation. Patients might remain asymptomatic till an electrocardiogram or chest X-ray is performed in the later years of life or might have just a mild murmur detected during a cardiac examination . The majority of patients experience poor exercise tolerance, fatigue, exertional dyspnoea and cyanosis starting right from infancy .
Patients might complain of syncope or near syncope, palpitations recurrently as late as the third decade of life. Cyanosis is a very common presentation due to the formation of the right to left shunt which leads to signs of heart failure eventually.
The symptoms of right heart failure like pulsatile liver, ascites, raised jugular venous pulse are all seen in the patients. Presence of pedal oedema and ascites are uncommon. Poor cardiac output can be explained due to the backward flow of blood. This will consequently decrease right ventricular ejection of blood.
Paroxysmal Supraventtricular arrhythmias are observed in about 25 to 40 % patients, especially teens and young adults  .
On physical examination one can see clubbing of fingers in varying degrees. Raised jugular venous pulse is a frequent observation with a distinct v wave indicating severe tricuspid regurgitation. First heart sound is widely split with a loud tricuspid component. Additional heart sounds are a common feature even if there is no failure of right heart. Sudden death may occur in about 5 to 7% patients .
Routine laboratory examinations might be within the normal ranges. Acidosis might be observed in symptomatic neonates. Arterial Blood Gases (ABG) levels might help assess severity of shunting and atrial septal defect.
Chest X-ray may show cardiomegaly and a large right atrium and ventricle producing a globular shadow.
On electrocardiogram Ebstein Malformation shows as abnormal P waves which are consistent with right atrial enlargement. Right axis deviation and Right Bundle branch Block are frequently observed as well.
On performing 2D echocardiography, paradoxical septal motion, dilated right atrium and ventricle along with the dysmorphic tricuspid valve leaflets. The Carperntier classification and Celermajer classification systems evaluate the echocardiographic findings based on tricuspid valve anatomy and size of cardiac chambers respectively .
There is apical displacement of the tricuspid valve and also abnormalities in the morphology of the tricuspid valve attachments. Its found that there are varying degrees of tricuspid regurgitation noticed.
Ebstein’s anomaly needs customized medical therapies for different individuals as the presentation and complications are wide in spectrum. Medical care needs to be focused on the patients who have right heart failure along with Ebstein’s malformation.
Drugs which are useful for this stage of the disease are Angiotensin converting enzyme (ACE) inhibitors, diuretics and digoxin. Anti-arrhythmic drugs are useful if the patient has arrhythmia. Antibiotics should be given prophylactically to patients suspected with infective endocarditis.
Symptomatic congestive cardiac failure is the main focus of medical treatment in older children.
Surgery is done mainly to correct the Ebstein malformation that is to correct the position of the underlying tricuspid valve, resect the atrial portion of the right ventricle and correction of any associated intra cardiac defects. The goal is to improve pulmonary flow, reduce tricuspid insufficiency, eliminate shunting and arrhythmias and maximize right ventricular ejection.
It was thought that valve replacement is better compared to repair in the 1960s when Christian Barnard successfully replaced a tricuspid valve with a mechanical valve and changed the thought process . The tricuspid valve repair i.e. annuloplasty is better than replacing the tricuspid valve thought process once again gained momentum in the 1970s with a successful technique by Danielson and team at Mayo Clinic .
Several techniques have been discovered for the repair now and early results for most have been successfull  . If there is arrhythmia present ablation of all other abnormal pathways is done keeping one main pathway and hence that problem is solved.
Prognosis is excellent when the surgery is performed early as there are lesser or no complications. Post operative the child is absolutely normal like other infants. Infant can function well once the operation is done and hence delay should not be done. Only 5% patients amongst the older age groups survive past the 5th decade .
It is a congenital heart disease whose exact point of embryological malfunction is not yet known. It is documented that abnormal delamination of the tricuspid valve leaflets is the reason for the Ebstein anomaly .
The predisposing factors which may lead to the formation of Ebstein Malformation in the heart are ingestion of lithium carbonate and benzodiazepine in the first trimester of the pregnancy . Exposure of the mother to varnishing substances is also a potential threat to the infant.
Exact numbers of cases that are affected is unknown as many mild cases go unaccounted. On account of recent advances and echocardiography, almost all cases are being diagnosed which is 0.5% to 1% of the total congenital heart disease tally .
It is more commonly seen in white skin people than the dark. The disease is more common among children but can occur in adulthood.
The malformation occurs as a result of the altered embryological development of the tricuspid valve leaflets and chordae.Normally, it involves the undermining of the right ventricular free wall up to the atrioventricular junction but in case of Ebstein Malformation there is incomplete undermining and it falls short of reaching the atrioventricular junction.
As a small portion or complete right ventricle behaves as the right atrium, there is mixing of blood in the circulation. A part of the ventricle is anatomically a portion of the right atrium but contracts and relaxes with the right ventricle. When the right atrium contracts during atrial systole the blood is forwarded towards the right ventricle.
Later on when the right ventricle contracts the portion of the ventricle which behaves like the right atrium will cause pushing of the blood back into the right atrium.
This extremely discordant contraction and relaxation of the ventricle and the atrium causes pooling of the blood in the atrium.
There are no guidelines for prevention of Ebstein Malformation.
Ebstein Malformation is a rare congenital malformation of the heart which is characterized by apical displacement of the septal and posterior, tricuspid valve leaflets, resulting in the atrialization of the right ventricle.
It is so named after Wilhelm Ebstein who first described about a patient with such cardiac defects from postmortem investigations performed almost 2 years ago . The surgical technique for correcting this was developed only a century later though .
Ebstein Malformation is a rare cardiac anomaly which is congenital in origin. There is apical displacement of the septal and the tricuspid valve leaflets along with atrium like behavior of a part of the right ventricle. This is called as atrialization of the ventricle.
The series of changes taking place are as follows. As the atrium contracts there is forward flow of blood from the right atrium to the right ventricle. Now, as the tricuspid valve is placed apically there is tricuspid regurgitation and when the ventricle contracts instead of blood flowing to the pulmonary artery, the blood flows backward into the right atrium. This discordant flow of blood is due to the small portion which behaves like the atrium anatomically results in pooling of blood in the right atrium. The ejection fraction reduces and there is backward pressure in the atrium.
On physical examination, clubbing and raised jugular venous pressure are seen due to the reduced ejection fraction of the right ventricle. X-ray will show an enlarged heart and a large right atrium border. Electrocardiogram and 2D echocardiogram are very sensitive tests and the diagnosis can be confirmed by these tests.
Medically, care should be taken and drugs like anti-rhythmic drugs, angiotensin converting enzyme inhibitors should be given along with digoxin. Antibiotics are given to treat any pathogen causing infective endocarditis. Once the medical aspect are taken care of, patient should be taken in for surgery. Surgery consists of resection of the portion of the right ventricle which behaves like the atrium and repairs of the tricuspid valves instead of replacement.
Once this basic anomaly is taken care of, one may look into the causes of arrhythmia and block the pathways which are causing extra excitation of the cardiac muscle. This will further reduce complications. Patient is advised to have a low sodium diet to avoid overloading the heart and exercises as per the tolerance level of the patient.
The prognosis of the disease is good after surgery. Surgery is suggested as early as possible to avoid irreversible damage to the heart. After surgery, patient survives a normal and healthy life like others.