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 Table of Contents  
CASE SERIES
Year : 2020  |  Volume : 17  |  Issue : 2  |  Page : 151-154

Ebstein's anomaly amongst adults with chronic heart failure: A case series and review of the literature


1 Department of Internal Medicine, Cardiology Unit, General Amadi Rimi Specialist Hospital, Katsina, Nigeria
2 Department of Medicine, Bayero University Kano and Aminu Kano Teaching Hospital, Kano, Nigeria

Date of Submission20-Oct-2019
Date of Decision30-Jun-2020
Date of Acceptance05-Jul-2020
Date of Web Publication9-Oct-2020

Correspondence Address:
Dr. Muhammad Nazir Shehu
Department of Internal Medicine, Cardiology Unit, General Amadi Rimi Specialist Hospital, Katsina
Nigeria
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/njbcs.njbcs_31_19

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  Abstract 


Ebstein's anomaly (EA) is a rare, congenital cardiac malformation-associated apical displacement of the tricuspid valve (TV) leaflets (commonly septal), leading to atrialisation of the right ventricle and dilatation of the right atrium. Clinical presentation depends on the degree of the displacement of TV leaflets and other associated cardiac malformations. Echocardiography is the standard criterion for the diagnosis of EA. We present a series of three cases of EA who all presented with features of chronic heart failure at the General Amadi Rimi Specialist Hospital and Federal Medical Centre, Katsina State, Nigeria.

Keywords: Ebstein's anomaly, heart failure, Kano


How to cite this article:
Shehu MN, Sani M U. Ebstein's anomaly amongst adults with chronic heart failure: A case series and review of the literature. Niger J Basic Clin Sci 2020;17:151-4

How to cite this URL:
Shehu MN, Sani M U. Ebstein's anomaly amongst adults with chronic heart failure: A case series and review of the literature. Niger J Basic Clin Sci [serial online] 2020 [cited 2020 Oct 29];17:151-4. Available from: https://www.njbcs.net/text.asp?2020/17/2/151/297603




  Introduction Top


Ebstein's anomaly (EA) is a rare cardiac malformation contributing to <1% of congenital heart diseases.[1] It is the malformation of the tricuspid valve (TV) and the right ventricle (RV) characterised by apical displacement and dilatation of the right atrioventricular annulus and dilatation of the right atrium (RA) and RV. Typically, the septal TV leaflet (and the posterior/inferior leaflet in severe forms) is apically displaced relative to the anterior leaflet of the mitral valve (MV).[2] A displacement more than 0.8 cm/m2 is the diagnostic of EA.[2] There is a subsequent variable thinning of the wall of the 'atrialised' RV along with redundancy and tethering of the anterior leaflet of the TV. This is best visualised using transthoracic echocardiography in the apical four-chamber view.

Clinical manifestation of EA may be in the form of arrhythmias, heart failure, paradoxical embolism and infective endocarditis (IE).[2] Medical therapy is indicated in symptomatic patients of heart failure or arrhythmias. However, surgical TV repair and percutaneous radiofrequency ablation may be necessary for intractable heart failure and arrhythmias, respectively.[3] Prophylaxis against IE is warranted.


  Case Reports Top


Case 1

A 26-year-old female presented with 3-year recurrent symptoms of dyspnoea on exertion, cough and legs and abdominal swelling. The symptoms started immediately after her last childbirth, and there was no previous history of similar illness in the past. Physical examination revealed bilateral pedal oedema, pulse rate of 120 beats/min irregularly irregular and blood pressure of 80/60 mmHg. First, second and third heart sounds were present, with pansystolic murmurs heard both at the left parasternal and apical areas. Initial diagnosis of congestive cardiac failure (the New York Heart Association [NYHA] IV) from likely peripartum cardiomyopathy was made.

Investigation results revealed cardiomegaly with the biventricular configuration on the chest X-ray [Figure 1]. Electrocardiography showed atrial fibrillation (AF), premature ventricular contractions and RV and left ventricular hypertrophy. Echocardiography showed massively dilated RA and RV, atrialisation of the RV and apical displacement of the septal TV 13.8 mm into the RV. The septal TV leaflet was tethered to the septum with associated severe TV regurgitation [Figure 2] and estimated pulmonary artery systolic pressure of 7.44 mmHg. Tricuspid annular plane systolic excursion (TAPSE) was 0.97 mm. All other chambers were dilated with left ventricular ejection fraction (LVEF) of 43%. She was placed on optimal medical therapy for heart failure and AF. The patient responded to treatment; however, she died suddenly on the 6th day of admission likely from malignant arrhythmia.
Figure 1: Case 1: Chest X-ray showing cardiomegaly

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Figure 2: Case 1: Displaced TV into the RV (13 mm), atrialisation of RV portion and massively dilated RA. Widely dilated TV annulus, spontaneous echo contrast in the RA and RV. TV: Tricuspid valve, RV: Right ventricle, RA: Right atrium

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Case 2

A 56-year-old postmenopausal female presented with a 10-month history of progressive dyspnoea on exertion, cough, paroxysmal nocturnal dyspnoea, orthopnoea and legs and abdominal swelling. She is not a known hypertensive or diabetic and had no family history of similar illness. However, the patient admitted early childhood history of breathlessness on exertion that prevented her from normal play with her peers. Physical examination revealed a middle-aged woman in mild respiratory distress anicteric, acyanosed with pitting pedal oedema up to the knee. The apex beat was laterally displaced and heaving. She had pansystolic murmur in the left parasternal area.

Investigation results include chest X-ray, which showed cardiomegaly with RV configuration [Figure 3]. ECG revealed RA enlargement in sinus rhythm. Echocardiography revealed massively dilated RA and RV, displaced septal TV 17.2 mm into the RV and arterialisation of the RV. Septal tethering of the TV was observed [Figure 4]. There was severe tricuspid regurgitation [Figure 5] with an estimated pulmonary artery systolic pressure of 27 mmHg. TAPSE was 11.9 mm. Left ventricle and atrium are normal in size, with LVEF of 70%. The patient has been on optimal medical therapy and being referred for surgical correction of the malformed TV.
Figure 3: Case 2: Plane chest X-ray showing cardiomegaly with right ventricular configuration

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Figure 4: Case 2: Echocardiography showing displaced septal TV, massively dilated RA and atrialisation of the RV. RA: Right atrium, RV: Right ventricle, TV: Tricuspid valve

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Figure 5: case 2; echocardiography showing severe tricuspid regurgitation

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Case 3

A 35-year-old female has been managed as a case of chronic heart failure for 7 years. She is not a known hypertensive or diabetic and no similar history in the family. Childhood history was not remarkable. She has six children, and her last childbirth was 7 years ago. Positive findings on physical examination revealed blood pressure of 90/60 mmHg, displaced heaving apex and murmur of tricuspid regurgitation.

Chest X-ray showed cardiomegaly with biventricular configuration [Figure 6]. ECG showed normal sinus rhythm. Echocardiography revealed dilated chambers (more on the right side), global hypokinesia, impaired systolic function (LVEF 47%) and restrictive LV filling pattern. The septal TV is displaced 18.2 cm into the RV with aterialisation of the part of the RV [Figure 7]. There is also tethering of the septal TV leaflet. The patient is also doing well on optimal medical therapy and also being referred for corrective surgery for heart failure and has been regular on follow-up. She is also being referred for corrective surgery.
Figure 6: Case 3: Chest X-ray showing cardiomegaly with biventricular configuration

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Figure 7: Case 3: Echocardiography showing dilated RA, aterialisation of the RV and displaced septal TV. RA: Right atrium, RV: Right ventricle, TV: Tricuspid valve

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  Discussion Top


Wilhelm Ebstein first described typical cardiac defect similar to EA in 1866.[2] The anomaly was later named 'EA' in 1927 by Alfared Amstein, and in 1937, the first case of the anomaly was described by Yates and Shapiro with associated radiographic and electrocardiographic data.[2]

The haemodynamic consequences of EA occur as a result of the displacement of malformed TV leaflets into the RV. This leads to tricuspid regurgitation and malfunction of the RV. Echocardiography is the standard modality for the diagnosis of EA.[2] The diagnosis is made when the apical displacement of the septal TV is >8 mm/m2 from the MV annulus.[2] The three cases presented in this report had displaced leaflets of 13.1 mm/m2, 11.9 mm/m2 and 18.2 mm/m2 for Cases 1, 2 and 3, respectively.

In one classification of severity of EA proposed by Carpentier et al.,[4] EA is classified into four classes of A to D, depending on the volume of RV available. Type A has adequate RV volume, whereas type D has almost the entire RV aterialised except for a small portion. Types B and C are in-between and matched the cases in this report depending on the degree of atrialisation described above. EA can present at any age from foetus to the elderly age group. If the deformity of the TV is severe, neonatal congestive heart failure or even intrauterine death may occur. On the other hand, patients with isolated minor TV displacement may remain asymptomatic until late adult life, as in the present cases.[5] A case of EA has been reported in an asymptomatic 90-year-old female who was referred for cardiologists' review due to the presence of severe systolic murmur.[6] The patient had septal TV displaced 12 mm into the RV and was said to have six successful spontaneous vaginal deliveries.[6] EA was also discovered in a 12-year-old boy in a specialist hospital, Kano, Nigeria.[7] This patient like the cases in this report presented with features of congestive cardiac failure and no associated cardiac abnormalities.[7]

Although Case 1 in our series had lesser TV leaflet displacement of 13.8 mm into the RV compared to Cases 2 and 3, Case 1 had severe manifestation of the anomaly and had sudden cardiac death. Case 1 had worst form of both RV and LV functions by echocardiography compared to any of the two cases, which may explain the severe manifestation of the anomaly in that patient.

The management of EA is guided by its manifestation. For asymptomatic patients with mild cardiomegaly and without left-to-right shunt, patients should undergo regular evaluation by a cardiologist with expertise in adult congenital heart disease.[6],[8] Arrhythmia should be treated with antiarrhythmic drugs or radiofrequency ablation (treatment of choice), and antibiotic prophylaxis should be administered against IE.[2],[6],[8] Those with symptoms and signs of heart failure should receive optimal medical therapy. Surgical therapy involves the correction of TV and RV abnormalities as well as any other associated cardiac defects. The trend is to perform surgery early before the onset of frank symptoms and signs of heart failure.[2] Surgery is indicated in patients with NYHA Functional Class I–II plus cardiothoracic ratio of 0.65 or greater, NYHA Class III–IV, history of paradoxical embolism, significant cyanosis and arrhythmia refractory to medical and radiofrequency ablation.[2]


  Conclusion Top


Although EA is a rare congenital heart disease, its clinical diagnosis is very important because this malformation, which is amenable to surgery, may be confused with other congenital or acquired heart diseases. Moreover, early diagnosis may allow regular monitoring and preventive measures to be taken against fatal complications such as arrhythmias and IE that are commonly associated with the anomaly.

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 initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Acknowledgements

We highly appreciate the efforts and support of MS Abubakar and G Sanusi and the entire staff of the Department of Medicine, Federal Medical Centre, Katsina, towards the successful completion of this study.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Dearani JA, Danielson GK. Congenital heart surgery nomenclature and database project: Ebstein's anomaly and tricuspid valve disease. Ann Thorac Surg 2000;69:S106-17.  Back to cited text no. 1
    
2.
Riaz K, Yasmine SA, Talavera F, Runge MS. Ebstein Anomaly Treatment and Management. Available from: https://emedicine.mediscape.com/article/154447-treatment. [Last accessed on 2017 Jan 17].  Back to cited text no. 2
    
3.
Brown ML, Dearani JA, Danielson GK, Cetta F, Connolly HM, Warnes CA, et al. The outcomes of operations for 539 patients with Ebstein anomaly. J Thorac Cardiovasc Surg 2008;135:1120-36, 1136.e1-7.  Back to cited text no. 3
    
4.
Carpentier A, Chauvaud S, Macé L, Relland J, Mihaileanu S, Marino JP, et al. A new reconstructive operation for Ebstein's anomaly of the tricuspid valve. J Thorac Cardiovasc Surg 1988;96:92-101.  Back to cited text no. 4
    
5.
Celermajer DS, Bull C, Till JA, Cullen S, Vassillikos VP, Sullivan ID, et al. Ebstein's anomaly: presentation and outcome from fetus to adult. J Am Coll Cardiol 1994;23:170-6.  Back to cited text no. 5
    
6.
Yesin M, Macit K, Bayan E, Gursoy MO, Karakoyun S, Ozkan M. Ebstein Anomaly in an Asymptomatic Nonagenarian: A Case Report. Available from: https://www.pulsus.com/…/ebstein-anomaly-in-an-asymptomatic- nonagenarian-a-cas. [Last accessed on 2019 Mar 15].  Back to cited text no. 6
    
7.
Sani MU, Wudil BJ, Masokano K, Borodo MM. A 12 year old boy with Ebstein's anomaly and aneurysmal right atrium: A case report. J Med Tropics 2007;9:47-53.  Back to cited text no. 7
    
8.
Krieger EV, Valente AM. Diagnosis and management of Ebstein anomaly of the tricuspid valve. Curr Treat Optins Cardiovascular Med 2012;14:594-607.  Back to cited text no. 8
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]



 

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