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Ebstein Malformation

Ebsteins Anomaly

Ebstein anomaly is a congenital heart defect characterized by a downward displacement of the base of the valves, into the right ventricle.


Presentation

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].

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.medscape.com]
Pulsatile Liver
  • Pulsatile liver, raised jugular venous pressure, oedema over ankles and legs, dyspnea are common findings in the patient.[symptoma.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]
  • They range from none to cyanosis, cardiac arrythmias, especially paroxysmal tachyardias, fatigability, and dyspnea. Both sexes are equally affected. Some patients die in infancy, others may survive to advanced age.[whonamedit.com]
  • Cyanosis typically improves as pulmonary resistance decreases after birth.[pedclerk.bsd.uchicago.edu]
  • 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]
Excitement
  • 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]
  • Many patients with Ebstein’s also have arrhythmias called pre-excitation and Wolff-Parkinson-White syndrome. Our specialized team of electrophysiologists diagnose and treat these arrhythmias.[childrenshospital.org]
  • 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.[symptoma.com]
  • […] cardiac abnormalities (e.g. atrial septal defect (ASD) or patent foramen ovale (PFO) and their associated shunting) Electrocardiogram Some ECG abnormalities include Tall peaked P waves : right atrial hypertrophy Right bundle branch block pattern Pre-excitation[pedclerk.bsd.uchicago.edu]
  • The abnormal development of tricuspid valve results in several activation abnormalities including delayed intra atrial conduction, right bundle branch block, ventricular pre-excitation etc.[apicareonline.com]

Workup

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
Right Axis Deviation
  • 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]
  • Note the inverse depolarization/repolarization pattern in limb leads with right axis deviation. An incomplete right bundle-branch block is noted with reverse R-wave progression from V 4 R to V 7.[doi.org]
  • 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
  • bundle branch block T wave inversion in V1-V4 and Q waves in V1-V4 and II, III and aVF.[en.wikipedia.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]
  • 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 in the right-sided chest leads ECG from a patient with Ebstein's anomaly showing huge[pedclerk.bsd.uchicago.edu]
  • However, a complete right bundle-branch block pattern is not infrequent with increasing age.[doi.org]
  • There may be tall and broad P waves (right atrial enlargement) and complete or incomplete right bundle-branch block. The R waves in leads V1 and V2 are small.[patient.info]
Incomplete Right Bundle Branch Block
  • There may be tall and broad P waves (right atrial enlargement) and complete or incomplete right bundle-branch block. The R waves in leads V1 and V2 are small.[patient.info]
  • It may show tall and broad P waves as a result of right atrial enlargement, as well as complete or incomplete right bundle-branch block. 38 The R waves in leads V 1 and V 2 are small.[doi.org]
  • An incomplete right bundle-branch block is noted with reverse R-wave progression from V 4 R to V 7.[doi.org]
Right Ventricular Hypertrophy
  • Persistent right ventricular hypertrophy beyond infancy is rare.[doi.org]
  • ventricular hypertrophy and tricuspid regurgitation.[apicareonline.com]
  • Electrocardiography in ebstein anomaly A twelve-lead electrocardiogram (ECG) may demonstrate evidence of right bundle block, right atrial and right ventricular hypertrophy, accessory pathways, "Himalayan" p waves, referring to giant p waves [ 21 ] ( Figure[vipoa.org]
Right Atrial Hypertrophy
  • atrial hypertrophy Right ventricular conduction defects Wolff-Parkinson-White syndrome often accompanies While Ebstein's anomaly is defined as the congenital displacement of the tricuspid valve towards the apex of the right ventricle, it is often associated[en.wikipedia.org]
  • 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 in the right-sided chest leads ECG from a patient with Ebstein's[pedclerk.bsd.uchicago.edu]

Treatment

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

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].

Etiology

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.

Epidemiology

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.

Sex distribution
Age distribution

Pathophysiology

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.

Prevention

There are no guidelines for prevention of Ebstein Malformation.

Summary

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].

Patient Information

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.

References

Article

  1. Ebstein W. Ueber einen sehr seltenen Fall von Insufficienz der Valvula Tricuspidalis bedingt durch eine angeborene hochgradige Missbildung derselben. Arch Anat Physiol. 1866;33:238.
  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.
  5. Zalzstein E, Koren G, Einarson T, Freedom RM. A case-control study on the association between first trimester exposure to lithium and Ebstein's anomaly. Am J Cardiol. Mar 15 1990;65(11):817-8.
  6. Ghosh S, Avari JN, Rhee EK, Woodard PK, Rudy Y. Noninvasive electrocardiographic imaging (ECGI) of epicardial activation before and after catheter ablation of the accessory pathway in a patient with Ebstein anomaly. Heart Rhythm. Jun 2008;5(6):857-60.
  7. Barber G, Danielson GK, Heise CT, Driscoll DJ. Cardiorespiratory response to exercise in Ebstein's anomaly. Am J Cardiol. Sep 15 1985;56(8):509-14.
  8. Watson H. Natural history of Ebstein's anomaly of tricuspid valve in childhood and adolescence. An international co-operative study of 505 cases. Br Heart J. May 1974;36(5):417-27
  9. Celermajer DS, Dodd SM, Greenwald SE, Wyse RK, Deanfield JE. Morbid anatomy in neonates with Ebstein's anomaly of the tricuspid valve: pathophysiologic and clinical implications. J Am Coll Cardiol. Apr 1992;19(5):1049-53.
  10. Barnard CN, Schrire V. Surgical correction of Ebstein's malformation with prosthetic tricuspid valve. Surgery. Aug 1963;54:302-8.
  11. Danielson GK, Maloney JD, Devloo RA. Surgical repair of Ebstein's anomaly. Mayo Clin Proc. Mar 1979;54(3):185-92
  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.
  13. Starnes VA, Pitlick PT, Bernstein D, Griffin ML, Choy M, Shumway NE. Ebstein's anomaly appearing in the neonate. A new surgical approach. J Thorac Cardiovasc Surg. Jun 1991;101(6):1082-7.
  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.

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Last updated: 2019-07-11 21:04