(IV-1D.1b) Patient with Ebstein anomaly, VSD and heart failure Prof. Andrzej Gackowski MD, PhD, Anton Chrustowicz MD, PhD

Background
Ebstein anomaly is a rare congenital defect. Tricuspid valve in these patients is displaced towards the apex of the right ventricle. As a result part of the right ventricular muscle is located in functional atrium and the right ventricular volume is decreased comparing to normal. Depending on the degree of valve malformation and RV atrialisation different clinical presentation is possible – from mild symptoms to severe right heart failure.

Case presentation
We present a case of 35-years old lady with Ebstein anomaly coexisting with ASD type II and muscular VSD diagnosed when she was 10. She was soon operated and ASD was surgically closed but the VSD was left without intervention. She had moderately limited exercise capacity comparing to her schoolmates. After the school she worked as a babysitter and did not take any medications. At the age of 30 she was twice admitted to hospital due to paroxysmal supraventricular tachycardia of 150/min causing dizziness. The tachycardia was stopped after potassium and magnesium iv administration. She underwent ablation procedure (no details available) and since then she has only sporadic short runs of SVT during the sotalol 80mg t.i.d. treatment.
For several years the patient has been having exertional dyspnea and exercise capacity limitation (NYHA II). She had no peripheral oedema nor cyanosis. Her BP was 110/70mmHg. Chest X-ray revealed mild enlargement of the heart and comparable to previous X-ray studies. A 4/6 systolic precordial murmur was audible. ECG tracing showed sinus rhythm 80bpm, without morphological abnormalities. On TTE we found septal tricuspid leaflet located approx. 27mm towards the apex comparing to anterior mitral leaflet level. Approx. 10mm more apically from the septal leaflet small muscular VSD was found – the diameter was approx 2.5mm, with high gradient turbulent left-to right systolic shunt. Right ventricular area in apical 4ch view was 20cm2 comparing to 26cm2 of the functional right atrium. There was mild tricuspid regurgitation. The RVSP was estimated as 35mmHg and the inferior vena cava was not dilated, with normal respiratory variation. The echocardiographically estimated Qp/Qs was 1.3.
The question was raised concerning the potential need of surgical correction – closure of the VSD and/or tricuspid valve correction.

Current guidelines
Current guidelines recommend surgery in patients with significant tricuspid regurgitation, severe heart failure (NYHA > II), severe valve deformation. No specific guidelines are given concerning coexistence of the Ebstein anomaly and small VSD.

Expert’s comments:(Written authorization required from each expert)

1.Lidia Tomkiewicz-Pajak MD. PhD.²
The patient with mild Ebstein malformation after ASD closure and with hemodynamicaly not significant small muscular VSD in NYHA class II. The patient should be qualified for pharmacological treatment and observation.

2. Paweł Rubiś MD. ²
In a view of only minor symptoms (infrequent episodes of hemodynamically stable supraventricular arrythmias) and relatively preserved exercise capacity (NYHA I-II), probably the best approach to this patient would be conservative. Giving the high complexity of RV abnormalities, redo surgery (which is always a significant operational risk factor), uncertainties weather accompanying VSD should also be simultaneously closed, the surgical re-operation is currently not a viable option. Without doubt, the patient should be closely monitored in the experienced, dedicated center both clinically and echocardiographically. Especially, in the case of the deterioration of tricuspid regurgitation, the indications for the surgical correction should be reevaluated. As for pharmacological management of arrythmias, the trail should be given for Sotalol and if proven effective should be continued. The second line anti-arrhythmic treatment would be other beta-blockers, polphenone, and amiodarone. The last resort is ablation of the arrythmogenic focuses, which can be complicated due to distorted shape of right ventricle.

3. Jakub Podolec, MD ³
The treatment proccess is closely related to patient‘s symptoms. When accepted by the patient, dyspnea at NYHA II stage, as well as the supraventricular arrythmias which rarely occur, can be controlled farmacologically at this stage of the disease. In case of future increase of symptoms, re-ablation procedure could be recommended. VSD with left-to-right systolic shunt is small and should not be corrected at this stage. In order to evaluate functional status of the RV and due to its‘ measurements, the monitoring of the patient at least once/year should be mandatory. Surgery recommendation could be an option for the future. If the diameter of the functional RV is greater than 1/3 of the whole anatomical RV, a favoured procedure of tricuspid valve repair could be considered regardless of it’s difficulty, however in all cases it should be performed in a well experienced center. Mortality rate regarding patients after surgical procedures undertaken in well experienced centers has decreased within the last years to 6% [1]. According to Canadian Cardiovascular Society Consensus surgical intervention should be considered if patient has limited exercise capacity (NYHA class 
> II), Increasing heart size (cardiothoracic ratio > 65%), important cyanosis (resting oxygen saturations of less than 90%), severe tricuspid regurgitation with symptoms, TIA or stroke.

4. Krzysztof Bederski MD.
Pulmonary involvement in Ebstein anomaly, VSD and heart failure.In 1866, Ebstein described the post-mortem findings of a 19-year-old boy who died in congestive heart failure. The tricuspid valve was replaced by a large membrane, originating from the annulus fibrosus and from the anterior and posterior portions of the endocardium of the right ventricle and the interventricular septum and the septal cusp was displaced downwards 15 mm from the annulus a patent foramen ovale was uncovered and multiple defects were present in the septum primum. The symptoms in Ebstein’s syndrome are usually mild. Approximately 30 % of patients are asymptomatic at the time of examination. Eventually all patients develope fatigue and dyspnea, which are the most common symptoms observed. Cyanosis is present in 85 per cent of the cases, however it starts in variable points of life from infancy to grown-up adults. Sometimes it is present only on exposure to cold or only after exertion. It is thougt that the presence of cyanosis should not be emphasized as an essential feature for the diagnosis of Ebstein’s syndrome. Although it is a common feature of the symptomatic pattern, cases without a right-to-left shunt may never develop central cyanosis despite the presence of an interatrial communication. The clinical diagnosis of Ebstein’s syndrome will be made more frequently if less stress is placed on the presence of cyanosis and greater consideration is given to other features of the syndrome. In summary, it is emphasized that Ebstein’s syndrome represents a heterogenous combination of congenital abnormalities, characterized chiefly by downward displacement of a rudimentary tricuspid valve. The symptomatic picture is generally mild, although cyanosis can occur due to an interatrial communication. Physical examination may show evidence of right heart failure. A systolic murmur is best heard along the left sternal border and a third heart sound is generally present. The hemodynamic alterations are variable although decreased cardiac output, arterial oxygen unsaturation, and “ventricularization” of the right atrial curve are not uncommon. The catheter usually curls in the dilated right atrium. The electrocardiographic pattern is almost always that of complete or incomplete right bundle-branch block, while radiologically the heart generally has a globular contour. Surgery should be considered in cases of Ebstein’s syndrome. Patients with Ebstein’s syndrome may be confused with cases of pulmonic stenosis and ostium atrioventricularis communis. The diagnosis may be difficult to establish clinically despite the apparently typical spectrum of the syndrome.[1-2]

5. Piotr Podolec MD. PhD.²
Ebstein’s anomaly is a complex malformation that has been treated by various surgical techniques, with variable results since 1958. In 1972, the authors developed a repair that
consisted of plication of the free wall of the atrialized portion of the right ventricle, posterior tricuspid anuloplasty, and right atrial reduction.[1] The repair is based on the construction of a
monocusp valve by the use of the anterior leaflet of the tricuspid valve, which is usually enlarged in this anomaly. Not all patients are candidates for this procedure, however, because of significant abnormalities of the anterior leaflet such as inadequate size or attachment of the free edge of the leaflet to the ventricular wall. Surgical repair of Ebstein’s anomaly is indicated for those patients who are in functional Class III or IV. The quality of life is improved and longevity is increased. Whenever possible, the authors prefer a plastic repair that is based on constructing a monocusp valve of the anterior tricuspid leaflet, combined with plication of the atrialized portion of the free wall of the right ventricle, posterior tricuspid anuloplasty, and right atrial reduction. Repair is preferred to valve replacement whenever it is feasible, since it avoids the problems of prosthetic valve dysfunction, anticoagulation, and, in children, the need for replacement of the prosthesis because of growth.[2]
The Canadian Cardiovascular Society (CCS) recommends surgical intervention for the following indications: Limited exercise capacity (NYHA III-IV), Increasing heart size (cardiothoracic ratio greater than 65%), Important cyanosis (resting oxygen saturation of less than 90%) – (Level B), Severe tricuspid regurgitation with symptoms, Transient ischemic attack or stroke.
The CCS further recommends patients who require operation for Ebstein anomaly should be operated on by congenital heart surgeons who have substantial specific experience and success with this operation. Every effort should be made to preserve the native tricuspid valve.[3]

Expert’s conclusions:
The experts, after the case analysis and presentation of the diagnostic images recommended further conservative treatment as the probability of successful correction of tricuspid anatomy is doubtful and the VSD is most probably not a significant problem. The second surgical intervention seems not justified.

Authors:
Prof. Andrzej Gackowski MD, PhD ¹, Anton Chrustowicz MD, PhD ¹

Experts:
Lidia Tomkiewicz-Pajak MD. PhD², Paweł Rubiś MD², Jakub Podolec, MD³, Krzysztof Bederski MD, Piotr Podolec MD. PhD²

¹Department of Coronary Disease, John Paul II Hospital,
Institute of Cardiology, Faculty of Medicine, Jagiellonian University, Krakow, Poland
²Department of Heart and Vascular Disease, John Paul II Hospital, Kraków, Poland
³Department of Hemodynamics and Angiocardiography, John Paul II Hospital, Krakow, Poland