Journal of Clinical and Preventive Cardiology

: 2020  |  Volume : 9  |  Issue : 3  |  Page : 118--120

Ebstein's anomaly with rheumatic mitral valve disease: A rare case report

Kamal Kant Jena1, Janani Arul2,  
1 Department of Cardiology, Government Stanley Medical College, Chennai, Tamil Nadu, India
2 Department of Paediatrics, SRM Medical College, Hospital and Research Centre, Kattankulathur, Tamil Nadu, India

Correspondence Address:
Dr. Kamal Kant Jena
Department of Cardiology, Government Stanley Medical College, Chennai - 600 001, Tamil Nadu


Ebstein's anomaly (EA) is a rare congenital heart disease characterized by the apical displacement of the septal and posterior leaflets of the tricuspid valve, leading to an atrialized right ventricle. The clinical presentation is varied, depending on the severity and associated cardiac anomalies. Here, we discuss a case of a 16-year-old young girl with EA and Wolff-Parkinson-White syndrome with rheumatic mitral valve stenosis.

How to cite this article:
Jena KK, Arul J. Ebstein's anomaly with rheumatic mitral valve disease: A rare case report.J Clin Prev Cardiol 2020;9:118-120

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Jena KK, Arul J. Ebstein's anomaly with rheumatic mitral valve disease: A rare case report. J Clin Prev Cardiol [serial online] 2020 [cited 2020 Nov 26 ];9:118-120
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Ebstein's anomaly (EA) is a rare congenital malformation of the tricuspid valve (TV) and right ventricle, having a broad spectrum of clinical presentation. EA accounts for 1% of all congenital heart diseases with an incidence of 1 in 200,000 live births.[1] It was first described by Wilhelm Ebstein in 1866.[2] The hallmark of EA is the apical displacement of the septal leaflet of TV from the insertion of the anterior mitral leaflet by at least 8 mm/m 2 body surface area. The coexistence of rheumatic heart disease with EA is a highly uncommon finding. Here, we present a case of a patient diagnosed with EA presented at the age of 16 years with rheumatic mitral valve stenosis.

 Case Report

A 16-year-old girl presented with dyspnea New York Heart Association III, orthopnea with pedal edema, and intermittent palpitations for the past 2 years with no other significant history. History revealed that she had taken oral penicillin tablets for the past 5 years probably due to rheumatic fever but no relevant documents were available. There was no relevant personal or family history. Examination revealed a low volume, regular pulse rate of 72 per min, blood pressure of 110/70 mm hg, and oxygen saturation of 97% in room air. The apical impulse was tapping in nature in the 5th intercostal space on the midclavicular line. On auscultation, S1 was loud and S2 had a wide variable split with a loud pulmonary component. The murmur was rough rumbling mid-diastolic murmur with a presystolic accentuation in the mitral area and a pan systolic murmur of grade 2/6 in the tricuspid area.

The electrocardiogram showed a normal sinus rhythm with left axis deviation, short PR interval (90 ms), broad QRS complexes (110 ms) with delta waves, and suggestive of Type-B Wolff-Parkinson-White (WPW) syndrome with a right posteroseptal accessory pathway [Figure 1]. Chest X-ray posterior - anterior view showed cardiomegaly due to an enlarged right atrium and enlarged the main pulmonary trunk [Figure 2].{Figure 1}{Figure 2}

Two-dimensional echocardiography in the apical four-chamber view revealed, apical displacement of the septal leaflet of TV up to 22 mm, with a large atrialized right ventricle [Figure 3], consistent with EA. Interatrial and ventricular septum were found to be intact. Ejection fraction was 64%. The mitral leaflets appeared thickened with restricted posterior mitral leaflet movement and diastolic doming of the anterior mitral leaflet with moderate mitral regurgitation [Figure 4]. The mitral valve orifice area by planimetry and diastolic pressure half time (242 ms) was noted to be 1.1 cm 2 with a mitral valve mean gradient of 13 mmhg suggestive of severe stenosis [Figure 5]. The aortic and pulmonary valves were normal. The color Doppler across TV showed moderate tricuspid regurgitation with a pressure gradient of 42 mm hg.{Figure 3}{Figure 4}{Figure 5}

She was treated with furosemide, carvedilol, ramipril, and amiodarone. She is on follow-up for 18 months and has been planned for mitral and TV replacement.


EA is a rare congenital cardiac malformation characterized by (i) adherence of the septal and posterior leaflets of the TV to the underlying myocardium (failure of delamination during embryologic development), (ii) downward (apical) displacement of the functional tricuspid annulus toward the right ventricular, and (iii) dilation of the “atrialized” portion of the right ventricle, with various degrees of hypertrophy and thinning of the wall.[1],[2]

The diagnosis of EA was performed from the typical apical displacement of the septal leaflet of TV up to 22 mm, which requires apical displacement of the septal leaflet of the TV from the insertion of the anterior leaflet of the mitral valve by at least 8 mm/m 2 body surface area.[3] This will lead to small functional right ventricle and dilation of the right atrium in addition to atrial and ventricular arrhythmias.[4] Our patient had a large atrialized right ventricle with freely moving anterior leaflet of TV (Carpentier type B EA).[5] Rarely left-sided heart lesions have also been associated with EA which accounts for 39% of the cases.[6]

An acquired rheumatic mitral valve disease is a very rare association with EA which can alter the course of the disease with rapid progression of symptoms with heart failure and pulmonary hypertension and atrial fibrillation.[7] About 6%–36% of patients with EA have >1 accessory pathways which are also found in our patient.[8] This may lead to supraventricular tachyarrhythmia and preexcitation syndrome and sudden cardiac death.

EA is a rare congenital anomaly that very rarely remains undetected into late adulthood. The survival rate of 40% neonates with EA is only up to 1 month, whereas children <5 years is up to 5 years.[9] Here, our patient has EA of Type B variety, WPW syndrome with a right posteroseptal accessory pathway, and rheumatic mitral valve disease. Our patient had Type B EA with functional RV of 45% which made it possible for her to survive up to 16 years.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initial s will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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