Afrim , Hamza , Artan , and Gani: Ebstein malformation associated with left atrium myxoma.

A 62 year old lady, diagnosed with Ebstein malformation 12 years ago, presented to clinic with severe fatigue, breathlessness, chest pain, palpitations, and loss of weight. She had clear evidence for irregular rhythm, rales at the basal lung fields and clinical signs of severe right sided failure. A 12 lead ECG showed atrial fibrillation with wide QRS complex (130 ms) and right bundle-branch block. Echocardiography showed septal tricuspid valve leaflet displacement of 1.6 cm into the right ventricle (Figure 1&2). The right atrium was enlarged, 70 x 110 cm in diameter, with moderate tricuspid regurgitation and estimated pulmonary hypertension of 90 mmHg. In addition, there was an echo dense mass (26 x 30 mm) attached to the left atrial side of the interatrial septum, with morphologic appearance consistent with atrial myxoma. According to our knowledge, this case of such combination seems the first reported in the literature.

The Ebstein’s anomaly, first prescribed by Wilhelm Ebstein in 1866, is a rare cardiac anomaly that accounts for less than 1% of all congenital heart disease and involves both genders equally1. Ebstein anomaly consists of abnormal attachment of tricuspid valve leaflets to the annulus2, with a downward displacement of the tricuspid valve into the right ventricle, dysplastic valve tissue associated with tricuspid regurgitation3. Most patients with this anomaly remain asymptomatic for years. The predominant symptoms are fatigue, breathlessness on exertion and cyanosis. Palpitation in the form of paroxysmal atrial arrhythmia and premature ventricular beats are common, whereas ascites and peripheral edema are present in some of these patients1,4. Ebstein anomaly may be associated with other congenital heart malformations6–10: ventricular septal defect, interatrial septal defect or patent foramen ovale, aortic coarctation, pulmonary atresia with an intact ventricular septum, partial atrioventricular canal, hypoplastic pulmonary arteries, patent ductus arteriosus, pulmonary stenosis, tetralogy of Fallot, cleft anterior leaflet of the mitral valve or mitral valve prolapse. Surgical treatment of Ebstien anomaly includes valve replacement or the native valve repair3.

Our patient remained silent for 50 years until presented with paroxysmal atrial fibrillation when the diagnosis of Ebstien anomaly was made. At that stage tricuspid regurgitation was just mild-moderate in severity. Now, the clinical picture has significantly changed with worsening regurgitation and development of pulmonary hypertension. While the former complication is related to the syndrome the latter might not necessarily. It seems the development of left atrial myxoma was an additional cause for this patient’s pulmonary edema and pulmonary hypertension. Such combination has not been reported before, and it urges a critical echocardiographic examination in Ebstien patients who present with unexplained pulmonary hypertension.

Figure 1

Apical 4-chamber view showing tricuspid valve displacement into the right ventricle, giant right atrium and left atrial myxoma.


Figure 2

Respective images of color-Doppler showing the level of accelerated transtricuspid flow, deep in the cavity of the right ventricle.




Danielson Gordon K, Ebstein’s Anomaly, Sabiston David C Jr M.D., Spencer Frank C M.D. Surgery of the Chest 6th Edition. Philadelphia, London, Toronto, Montreal, Sydney, TokyoW.B. Saunders Company1996; 1648–58


Keith JD, Rose RD, Vlad P Heart Disease in Infancy and Children. New YorkMacmillan Co1958; 934


Al Ani Hameed, AL ANI Firas H, Wadhah Mahbuba Adult Ebstein Anomaly with Right Atrial Myxoma: case report and discussion. Iraqi postgraduate Medical Journal. 2006; 52240–44


Crawford HM, DiMarco PJ, Paulus JW, Asplund K, Aurigemma G, Bakris GL et al Cardiology. Second edition, Mosby. 2004; 1337–41


Fauci SA, Braunwald E, Kasper LD, Hauser LS, Longo LD, Jameson LJ, Loscalzo J Harrison’s Principles of Internal Medicine, 17th Edition, International edition. McGraw Hill2008; 1464


Kirklin JW, Barratt-Boyes BG Cardiac Surgery 2nd Edition. NewYork, Edinburgh, London, Madrid, Melbourne, TokyoChurchill Livingstone1993; 1115


Davis James E, Starnes Vaughn A Ebstein’s malformation of the tricuspid valve in children. Kaiser Larry R M.D, Kron Irving L M.D, andSpray Thomas L M.D, Mastery of Cardiothoracic Surgery 930–36


Dearani JA, Danielson GK Congenital Heart Surgery Nomenclature and Database Project: Ebstein’s anomaly and tricuspid valve disease. Ann Thorac Surg 2000; 69: 4106–17


Christine H, Attenhofer Jost, Connolly Heidi M, Dearani Joseph A, Edwards William D, Danielson Gordon K Ebstein’s Anomaly. Circulation 2007; 115: 277–85


Bajraktari G, Emini M, Berisha V, Gashi F, Beqiri A, Zahiti B, Selmani H, Shatri F, Manaj R Giant Left Atrial Myxoma in an Elderly Patient: Natural History Over a 7-Year Period. Wiley InterScience 2006; 3491002

Copyright (c) 2015 Gani Bajraktari, Afrim Poniku, Hamza Selmani, Artan Ahmeti

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