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 [6]. The majority of patients experience poor exercise tolerance, fatigue, exertional dyspnoea and cyanosis starting right from infancy [7].

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.

All these combined together cause dyspnoea on exertion and fatigue as the circulating blood levels are low. Despite all these, growth is usually normal.

Paroxysmal Supraventtricular arrhythmias are observed in about 25 to 40 % patients, especially teens and young adults [8] [3].
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 [3].

• Congestive Heart Failure

  Key words: Ebstein’s anomaly, ventricular communication, pulmonary blood flow, congestive heart failure. [eplabdigest.com]

  Surgery might be indicated in older children with moderate to severe congestive heart failure, significant heart enlargement, cyanosis, or abnormal clot formation. [cincinnatichildrens.org]

  In neonates or infants who remain in congestive heart failure or profoundly cyanotic while receiving appropriate medical therapy, operation is required. Current strategies include biventricular or single-ventricle repair. [ncbi.nlm.nih.gov]

  The initial presentation of the first two was an acyanotic heart defect with congestive heart failure and increased pulmonary flow, whereas the third patient was cyanotic and functionally impaired. The three patients underwent surgery. [pesquisa.bvsalud.org]

• Fatigue

  All these combined together cause dyspnoea on exertion and fatigue as the circulating blood levels are low. Despite all these, growth is usually normal. [symptoma.com]

  Other Problems If the valve abnormality is especially severe, you may have decreased stamina, fatigue, cyanosis and sometimes fluid retention. These problems usually develop because the valve has become leakier. [heart.org]

  Adult life: fatigue, exertional dyspnoea, cyanosis, tricuspid regurgitation and/or right heart failure and palpitations (arrhythmias are common). [patient.info]

• Asymptomatic

  Ebstein’s anomaly in an asymptomatic nonagenarian: A case report. Curr Res: Cardiol 2015;2(1):40-42. [pulsus.com]

  Clinical Presentation The presentation of Ebstein’s anomaly can vary widely, from a cyanotic neonate to a completely asymptomatic patient, This is due to the different severities of tricuspid and right heart anomalies patients may have. [pedclerk.bsd.uchicago.edu]

  Even in initially asymptomatic cases, life expectancy is usually limited to a few decades 7. Some surgical procedures have been performed with mixed results. Arrhythmias are treated with medications or pacemaker placement. [radiopaedia.org]

  In mild cases, the affected person may be asymptomatic for many years, sometimes even permanently. [nlm.nih.gov]

• Pulmonary Valve Stenosis

  […] and tricuspid valves Q22.0 Pulmonary valve atresia Q22.1 Congenital pulmonary valve stenosis Q22.2 Congenital pulmonary valve insufficiency Q22.3 Other congenital malformations of pulmonary valve Q22.4 Congenital tricuspid stenosis Q22.5 Ebstein's anomaly [icd10data.com]

  Ebstein anomaly may occur with other heart lesions, such as pulmonary valve stenosis or atresia, atrial septal defect or ventricular septal defect. [cincinnatichildrens.org]

  On the other hand, Arizmendi et al. 3 reported pulmonary valve stenosis as the most frequent CHD (39%). [elsevier.pt]

• Hypoxemia

  The right to left shunt may result in hypoxemia which does not respond to supplemental oxygen. [vipoa.org]

  Mortality • Neonatal deaths - either to severe hypoxemia, congestive heart failure or both. • Younger patients - congestive heart failure. • Older patirnts(20%) - with hemodynamically mild lesions - from atrial or ventricular arrhythmias. • Brain abscess [slideshare.net]

• Exertional Dyspnea

  Adult life: Ebstein anomaly presents with fatigue, exertional dyspnea, cyanosis, tricuspid regurgitation and/or right heart failure, and palpitations; arrhythmias are common. [emedicine.com]

• Heart Failure

  Management of heart failure. Treatment of arrhythmias. [patient.info]

  Medical therapy for heart failure or arrhythmias is typically used in conjunction with planned surgical intervention. [cincinnatichildrens.org]

  Adult life: Ebstein anomaly presents with fatigue, exertional dyspnea, cyanosis, tricuspid regurgitation and/or right heart failure, and palpitations; arrhythmias are common. [emedicine.com]

  However, the lesions led to excess pulmonary blood flow and congestive heart failure. The large and multiple ventricular communications required early surgical closure of these defects to avoid early heart failure in EA. [eplabdigest.com]

• Cyanosis

  Cyanosis and clubbing: variable degrees of cyanosis, and transient worsening with arrhythmias. Precordial asymmetry: usually left parasternal prominence and occasionally right parasternal prominence. [patient.info]

  Ebstein's anomaly is classified as light or severe. 2 Findings leaking tricuspid valve dilatation of right atrium small right ventricle, often with low output In some cases atrial septal defect or ventricular septal defect with shunts. 3 Symptoms Central cyanosis [flexikon.doccheck.com]

  Cyanosis typically improves as pulmonary resistance decreases after birth. [pedclerk.bsd.uchicago.edu]

   Neonatal life and infancy: Cyanosis and/or severeheart failure Improve as pulmonaryvascular resistancedecreases. Adult life: Fatigue, exertionaldyspnea, cyanosis, tricuspid regurgitation and/orright heart failure, and 24. [de.slideshare.net]

  But sometimes the tricuspid valve leaks severely enough to result in heart failure or cyanosis. Then surgery may be required. Several different operations have been used in patients with Ebstein's anomaly. [heart.org]

• Tachycardia

  Children who also have supraventricular tachycardia may need medicines to control their heartbeat. If tricuspid valve function is very bad, surgery may be done to improve it. [seattlechildrens.org]

  Abnormal accessory conduction pathways that allow fast heart rates (supraventricular tachycardia) to develop may be ablated (removed) using procedures in the catheterization laboratory. [cincinnatichildrens.org]

  Note the intra-atrial reentrant tachycardia cycle length of 215 ms with 2:1 AV conduction. [doi.org]

  Treatment [ edit ] Medication [ edit ] Ebstein's cardiophysiology typically presents as an (antidromic) AV reentrant tachycardia with associated pre-excitation. In this setting, the preferred medication treatment agent is procainamide. [en.wikipedia.org]

  Children with artificial valves will need to take anticoagulants for the rest of their lives, which can have a number of implications for their health and lifestyle (see Warfarin fact sheet). ♥ Your child may develop a very fast heart beat (tachycardia [chfed.org.uk]

• Systolic Murmur

  At autopsy of a young man with a history of palpitations’ and dyspnoea followed—before his death—by cyanosis, cardiomegaly and systolic murmur, the Berlin based doctor described a tricuspid valve abnormality. [heart.bmj.com]

  S3 heart sound S4 heart sound Triple or quadruple gallop due to widely split S1 and S2 sounds plus a loud S3 and/or S4 Systolic murmur of tricuspid regurgitation = Holosystolic or early systolic murmur along the lower left sternal border depending on [en.wikipedia.org]

  Lung sounds were clear and 4/6 systolic murmurs were heard on the right lower sternal border. Her blood pressure was 115/60 mmHg and electrocardiography showed sinus rhythm. A chest radiograph revealed cardiomegaly. [pulsus.com]

  On auscultation, a systolic murmur, best heard at the left lower sternal border, from tricuspid regurgitation is commonly found. [pedclerk.bsd.uchicago.edu]

  A systolic murmur was present at the left lower sternal border. Hepatomegaly was present. ECG revealed sinus rhythm and intermittent atrial flutter with 2:1 conduction and a ventricular rate of 136 beats per minute. [ispub.com]

• Hydrops Fetalis

  The presentation is often antenatal, with the development of hydrops fetalis and fetal tachyarrhythmias 6. In less severe cases, it may present at birth. [radiopaedia.org]

  Ebstein anomaly is one of the few congenital heart defects to cause significant cardiac dysfunction in utero, frequently with resultant severe cardiomegaly, hydrops fetalis, and tachyarrhythmias. 7 Embryology The tricuspid valve leaflets and chordae tendineae [radiologykey.com]

  Gembruch U, Holzgreve W (2003) Cardiac diseases in association with hydrops fetalis. In: Yagel S, Silverman N, Gembruch U (eds) Fetal cardiology. Martin Dunitz, London, pp 373–401 26. [springermedizin.de]

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 [9].

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.

• Cardiomegaly on Chest X-ray

  […] on chest X-ray ( Figure 4 ). [vipoa.org]

• Right Axis Deviation

  Thus, left-axis deviation is the rule. [doi.org]

  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. [symptoma.com]

  ECG showed right axis deviation but no arrhythmias. The patient was referred to the physician for complete evaluation and management. She was instructed to continue taking verapamil on regular basis. [apicareonline.com]

• Wide QRS Complex

  The classic WPW ECG pattern consists of : A short PR interval (rapid AV conduction through the accessory pathway) Delta wave (initial slow ventricular activation due to fiber to fiber conduction) A wide QRS complex (fusion of early ventricular activation [pedclerk.bsd.uchicago.edu]

  Note the short PR interval, delta wave, and wide QRS complex. The delta-wave axis (ie, negative in V 1, III, and aVF; positive in I and aVL) suggests a right-sided posteroseptal accessory pathway, which was successfully ablated. [doi.org]

• Short PR Interval

  The classic WPW ECG pattern consists of : A short PR interval (rapid AV conduction through the accessory pathway) Delta wave (initial slow ventricular activation due to fiber to fiber conduction) A wide QRS complex (fusion of early ventricular activation [pedclerk.bsd.uchicago.edu]

  Note the short PR interval, delta wave, and wide QRS complex. The delta-wave axis (ie, negative in V 1, III, and aVF; positive in I and aVL) suggests a right-sided posteroseptal accessory pathway, which was successfully ablated. [doi.org]

• Right Bundle Branch Block

  Also, a right bundle-branch block pattern and a first-degree atrioventricular block (prolonged PR-interval) due to intra-atrial conduction delay are seen. No evidence of a Kent-bundle is seen in this patient. [en.wikipedia.org]

  ECG right atrial enlargement right bundle branch block may be incomplete or complete abnormal PR interval associated with the Wolff-Parkinson-White syndrome alternatively, may demonstrate a prolonged PR interval The main abnormality is an abnormal tricuspid [radiopaedia.org]

  However, a complete right bundle-branch block pattern is not infrequent with increasing age. [doi.org]

  bundle-branch block; third and fourth heart sounds commonly present, even in the absence of congestive heart failure Testing A 12-lead electrocardiogram may demonstrate the following findings in patients with Ebstein anomaly: Normal sinus rhythm Intermittent [emedicine.com]

• Right Atrial Hypertrophy

  atrial hypertrophy Right ventricular conduction defects Wolff-Parkinson-White syndrome often accompanies [ edit ] A diagram showing the downward displacement of the tricuspid valve from its normal position in the fibrous ring down into the right ventricle [en.wikipedia.org]

  Some ECG abnormalities include Tall peaked P waves : right atrial hypertrophy Right bundle branch block pattern Pre-excitation due to right-sided accessory pathways – characteristic WPW ECG findings may also be seen, as discussed above Low-voltage QRS [pedclerk.bsd.uchicago.edu]

Treatment is aimed at medical management of the infection and complications, surgical management of the defect and following dietary advices and exercises regularly.

Medical management

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.

Surgical management

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 [10]. 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 [11].

Several techniques have been discovered for the repair now and early results for most have been successfull [12] [13]. 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 [14].

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 [4].

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 [5]. 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 [3].

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 [1]. The surgical technique for correcting this was developed only a century later though [2].

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 cause is congenital malformation but the disease has higher risk in fetuses where the mother may have consumed lithium or exposed to any varnishing agent during the pregnancy.

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.

Signs of right heart failure are evident. Pulsatile liver, raised jugular venous pressure, oedema over ankles and legs, dyspnea are common findings in the patient.

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.

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2. van Son JA, Konstantinov IE, Zimmermann V. Wilhelm Ebstein and Ebstein's malformation. Eur J Cardiothorac Surg. Nov 2001;20(5):1082-5.
3. Hong YM, Moller JH. Ebstein's anomaly: a long-term study of survival. Am Heart J. May 1993;125(5 Pt 1):1419-24
4. Anderson KR, Danielson GK, McGoon DC, Lie JT. Ebstein's anomaly of the left-sided tricuspid valve: pathological anatomy of the valvular malformation. Circulation. Sep 1978;58(3 Pt 2):I87-91.
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12. Carpentier A, Chauvaud S, Mace L, et al. A new reconstructive operation for Ebstein's anomaly of the tricuspid valve. J Thorac Cardiovasc Surg. Jul 1988;96(1):92-101.
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14. Lincoln T, Stewart C, Shah P. An unusual first presentation of Ebstein's anomaly in a 72-year-old patient. Ann Thorac Surg. Feb 2012;93(2):e19-20.