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A Case of Ebstein Anomaly with Left Ventricular Noncompaction and Anomalous Mitral Chordae to the Septum

 Senior Consultant Cardiologist, Max Diagnostic, Ranihat, Cuttack, Odisha, India

Date of Submission30-Oct-2020
Date of Acceptance22-Jan-2021
Date of Web Publication05-Apr-2021

Correspondence Address:
Biswaranjan Mishra,
201, Chandralok Apartment, Professorpada, Cuttack - 753 003, Odisha
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jiae.jiae_76_20


Left-sided involvement is increasingly recognized in cases of Ebstein anomaly (EA) of tricuspid valve, thus making it not an exclusive right-sided disease, rather a global form of heart disease, a type of cardiomyopathy. Left-sided involvement commonly occurs in the form of noncompaction. Mitral valve prolapse and other forms of mitral and aortic valve abnormalities are also associated with EA that contribute to the patient's symptoms and prognosis. Here is a case report of EA in a 25-year-old female presenting with dyspnea. Echocardiography revealed left ventricular (LV) noncompaction fulfilling Jenni criteria. In addition, there was an abnormal chordal attachment from the anterolateral papillary muscle to the ventricular septum. There was no LV outflow obstruction, ventricular functions were normal. The combined involvement of LV myocardium and mitral apparatus in EA made this case unique in its category.

Keywords: Anomalous mitral chordae, Ebstein anomaly, left ventricular noncompaction

How to cite this URL:
Mishra B. A Case of Ebstein Anomaly with Left Ventricular Noncompaction and Anomalous Mitral Chordae to the Septum. J Indian Acad Echocardiogr Cardiovasc Imaging [Epub ahead of print] [cited 2021 Jul 23]. Available from: https://www.jiaecho.org/preprintarticle.asp?id=313090

  Introduction Top

Ebstein anomaly (EA) of the tricuspid valve (TV) is a rare congenital anomaly that occurs due to arrest in de-lamination process during embryogenesis resulting in the displacement of septal tricuspid leaflet toward the right ventricular (RV) apex.[1] The anterior tricuspid leaflet becomes large sail like with various degrees of tethering to the RV myocardium. Competence of TV, size of atrialized RV, RV function, atrial shunt, and rhythm disorders are responsible for symptoms and prognosis. An association of left-sided involvement in EA is increasingly recognized indicating the global nature of EA. Left-sided involvement occurs in up to 40% of cases. Left ventricular noncompaction (LVNC) is reported to occur in around 18% of cases. Various types of mitral valvular and subvalvular anomalies are also associated frequently in EA.[2]

Here is a case of EA associated with LVNC and anomalous mitral chordal attachment to the interventricular septum (IVS).

  Case Report Top

A 25-year-old female presented with progressive shortness of breath from New York Heart Association Class I to II over the past several years. She had no history of palpitation or angina. Family history was nothing contributory. She was neither a hypertensive nor a diabetic and not on any other medication. Physical examination revealed normal vitals, no cyanosis, jugular venous pressure was not raised, there was cardiac enlargement with left ventricular (LV) type of apex, heart sounds were normal, and there was a Grade III/VI pansystolic murmur at left sternal border which was increasing in intensity on inspiration. Electrocardiogram showed sinus rhythm at 70 beats/min, no pre-excitation, right atrial enlargement (RAE), incomplete right bundle branch block, and no ventricular hypertrophy. Chest X-ray revealed cardiomegaly, LV contour, RAE, narrow hilum, and normal vascularity.

Two-dimensional (2D) echocardiography in apical four-chamber view showed 24-mm displacement of the hinge point of septal tricuspid leaflet toward RV apex [Figure 1]. The anterior tricuspid leaflet was large, sail like with tethering to RV free wall, and there was a large atrialized RV [Video 1]. Color Doppler interrogation revealed the presence of tricuspid regurgitation (TR), which was more apparent in slight angulation of transducer in an off-axis view [Video 2]. Multiple jets of TR were also seen [Figure 2]. Continuous-wave Doppler revealed a TR jet velocity of 1.75 m/s and a peak gradient of 12.3 mm of Hg indicating nonhypertensive TR [Figure 3]. As assessed from the vena contracta and jet area, TR was moderate in severity. Tricuspid annular plane systolic excursion was 26 mm indicating a normal RV systolic function. 2D apical four-chamber view when slightly angulated posteriorly (coronary sinus view) revealed LVNC [Video 3] with color flow in the recesses between the trabeculae [Figure 4] and [Video 4]. LV short-axis view at papillary muscle level more clearly showed the noncompaction including color flow into the recesses [Video 5]. Upon applying the Jenni criteria, the ratio of noncompacted to compacted myocardium in end-systole in short-axis at the level of papillary muscle was 2.2:1 fulfilling the criteria for LVNC[3] [Figure 5]. A review of apical four-chamber view in a slight posterior tilt showed an anomalous chordal attachment from the anterolateral papillary muscle to the IVS [Figure 6] and [Video 6]. There was no turbulence in the LV outflow tract (LVOT) as seen by color Doppler interrogation [Video 7] ruling out LVOT obstruction by the abnormal chordal attachment. LV ejection fraction calculated by biplane Simpson method was 60% and left atrial volume was 26 ml/m2 of body surface area. LV diastolic function measured from mitral inflow was normal.
Figure 1: Apical four-chamber view showing displacement of septal tricuspid leaflet by 24 mm toward the apex of the right ventricle (arrow). ARV: Atrialized right ventricle, LA: Left atrium, LV: Left ventricle, RA: Right atrium, RV: Right ventricle

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Figure 2: Off-axis apical four-chamber view showing multiple jets of tricuspid regurgitation (arrows). RV: Right ventricle

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Figure 3: Continuous-wave Doppler spectral recording of tricuspid regurgitation jet showing velocity of 1.75 m/s and gradient of 12.3 mmHg indicating nonhypertensive tricuspid regurgitation

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Figure 4: Posteriorly tilted apical four-chamber view showing prominent trabeculations in left ventricle and filling of intertrabecular recesses from the left ventricular cavity (arrows). ARV: Arterialized right ventricle, CS: Coronary sinus, LV: Left ventricle

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Figure 5: Short-axis view showing prominent trabeculations in the left ventricle. The ratio of noncompacted (white line) to compacted (black line) myocardium is 2.2:1 in end-systole fulfilling Jenni criteria for left ventricular noncompaction. C: Compacted, LV: Left ventricle, NC: Noncompated, RV: Right ventricle

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Figure 6: Posteriorly angulated apical four-chamber view showing anomalous connection of chordae from anterolateral papillary muscle to ventricular septum (arrow). ARV: Arterialized right ventricle, LV: Left ventricle, RV: Right ventricle

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Video 1: Apical four-chamber view showing displacement of the hinge point of septal tricuspid leaflet towards right ventricular (RV) apex. The anterior tricuspid was large, sail like with tethering to RV free wall and there was a large atrialised RV.

[Additional file 1]

Video 2: Colour Doppler interrogation in an off axis four-chamber view shows tricuspid regurgitation (TR), two jets of TR are seen.

[Additional file 2]

Video 3: Posteriorly angulated apical four-chamber view revealed left ventricular non-compaction. There were multiple large trabecule and inter-trabecular recesses.

[Additional file 3]

Video 4: Colour flow interrogation of posteriorly angulated apical four-chamber view showing colour flow from left ventricular cavity to the recesses in-between the trabecule.

[Additional file 4]

Video 5: Left ventricular short-axis view at papillary muscle level shows multiple trabecule and recesses; colour flow interrogation shows colour flow from left ventricular cavity to the recesses in-between the trabecule.

[Additional file 5]

Video 6: Apical four-chamber view in a slight posterior tilt showed an anomalous chordal attachment from the antero-lateral papillary muscle to the inter-ventricular septum.

[Additional file 6]

Video 7: Colour Doppler interrogation shows no turbulence in the left ventricular outflow tract in parasternal long-axis view ruling out obstruction by the anomalous chord.

[Additional file 7]

  Discussion Top

EA is rare, it occurs in approximately 1 per 200 000 live births, the prevalence of which is <1% of all congenital heart diseases.[4] Significant improvement has been made in the understanding of EA since the first description by Wilhelm Ebstein in 1866.[5] EA results from failure of delamination during embryologic development resulting in an apical displacement of the septal and posterior TV leaflets. Anterior leaflet becomes long and redundant with tethering to RV myocardium which often has fenestrations in it. A portion of the RV is atrialized. RV myocardium shows various degrees of hypertrophy and thinning.[6]

Left-sided defects and LV structural and functional abnormalities are known to be associated with EA. Since the report of Monibi et al. in 1978 of 17 patients with EA where 13 patients (92%) had angiocardiographic LV contraction abnormalities and 5 patients had additional mitral valve prolapse (MVP), the association of left-sided abnormalities, both in LV myocardium and mitral valve, has been recognized increasingly.[7] Attenhofer Jost et al. recently reported features resembling noncompaction in three patients (one boy aged 15 years and two women aged 20 and 29 years, respectively) with the EA without mitral or aortic valve abnormality. They suggested that LV pathology might be contributing to exercise intolerance or signs of left heart failure in patients with EA. Subsequently, the same authors analyzed 106 consecutive patients with EA and found left-sided heart abnormalities in 39%. Of these, 18% had LV dysplasia resembling noncompaction.[2] Haggerty BJ in a series of EA undergoing surgery reported MVP in 15%, bicuspid aortic valve in 8%, mitral valve dysplasia in 4%, and ventricular septal defect in 8% of cases. The authors concluded that EA should not be regarded as a disease confined to the right side of the heart.[8] In a recent study, determining factors that impact early postoperative outcomes in pediatric patients undergoing cone repair for EA, left-sided abnormalities were observed in 14% of 168 patients. Mitral valve abnormalities included MVP in 11, cleft mitral valve in 2, double orifice mitral valve, and parachute mitral valve in one each.[9]

In a search of literature, a combination of LVNC and abnormality of mitral apparatus was not found, neither there was a report of abnormal mitral chordal attachment to ventricular septum making it a first of its kind EA with LVNC and abnormal mitral chordal attachment to the ventricular septum.

  Conclusion Top

EA is a rare congenital heart disease which may remain undiagnosed and present in adolescence and adulthood. Although it is an anomaly of the TV, it is increasingly observed that left-sided involvement is not infrequent which may contribute to symptoms and prognosis. Left-sided myocardial structural and functional involvement occurs in the form of LV dysfunction, LVNC, and various mitral and aortic valvular anomalies. Complete evaluation in cases of EA including that of left-sided structures will definitely improve outcome of such defects.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Attenhofer Jost CH, Connolly HM, Dearani JA, Edwards WD, Danielson GK. Ebstein's anomaly. Circulation 2007;115:277-85.  Back to cited text no. 1
Attenhofer Jost CH, Connolly HM, Warnes CA, O'leary PW, Tajik AJ, Pellikka PA, et al. Noncompacted myocardium in Ebstein's anomaly: Initial description in three patients. J Am Soc Echocardiogr 2004;17:677-80.  Back to cited text no. 2
Jenni R, Oechslin E, Schneider J, Attenhofer Jost C, Kaufmann PA. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: A step towards classification as a distinct cardiomyopathy. Heart 2001;86:666-71.  Back to cited text no. 3
Frescura C, Angelini A, Daliento L, Thiene G. Morphological aspects of Ebstein's anomaly in adults. Thorac Cardiovasc Surg 2000;48:203-8.  Back to cited text no. 4
Van Son JA, Konstantinov IE, Zimmermann V. Wilhelm Ebstein and Ebstein's malformation. Eur J Cardiothorac Surg 2001;20:1082-5.  Back to cited text no. 5
Dearani JA, Danielson GK. Ebstein's anomaly of the tricuspid valve. In: Mavroudis C, Backer CL, editors. Pediatric Cardiac Surgery. 3rd ed. Philadelphia, Pa: Mosby; 2003. p. 524-36.  Back to cited text no. 6
Monibi AA, Neches WH, Lenox CC, Park SC, Mathews RA, Zuberbuhler JR. Left ventricular anomalies associated with ebstein's malformation of the tricuspid valve. Circulation 1978;57:303-6.  Back to cited text no. 7
Attenhofer Jost CH, Connolly HM, O'Leary PW, Warnes CA, Tajik AJ, Seward JB. Left heart lesions in patients with Ebstein anomaly. Mayo Clin Proc 2005;80:361-8.  Back to cited text no. 8
Haggerty BJ, Dorn CS, Anderson HN, Dearani JA, Wackel PL, Cetta F, et al. Impact of left-sided lesions in pediatric patients having surgery for ebstein anomaly. Pediatrics 2019;144 (2 MeetingAbstract) 294. DOI: 10.1542/peds.144.2_MeetingAbstract.294.  Back to cited text no. 9


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


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