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Surgery

Ebstein's Anomaly

Fiona Kennedy, GUCH Nurse Specialist at London's Heart Hospital explains the condition Ebstein's Anomaly, its associated valve problems and the pioneering new surgery describes Margaret Smith in her accompanying article, "Ebstein's and me".

Ebstein's Anomaly is a rare condition that affects the tricuspid valve, which is on the right side of the heart between the upper collecting chamber (atrium) and pumping chamber (ventricle) and can also affect the heart muscle itself.

The tricuspid valve does not develop properly early on in foetal life and is not positioned as it should be inside the heart.

Ebstein's Anomaly was first described in a publication by German physician Wilhelm Ebstein in 1866. The condition occurs in 0.5% of people born with congenital heart disease and is frequently associated with other congenital heart problems, such as atrial septal defect (ASD), ventricular septal defect (VSD), pulmonary stenosis and pulmonary atresia.

There are often problems with cardiac rhythm, most commonly atrial flutter or fibrillation. Quite a large proportion of patients with Ebsteins anomaly have arrhythmias. This is often associated with an additional strand of muscle which lies between the atria and the ventricle. This is sometimes known as Wolff Parkinson White syndrome or WPW. WPW can occur with other forms of congenital heart disease or may occur as a sole abnormality. WPW can usually be treated by medications or by an ablation procedure. This is a keyhole operation where the additional strand of muscle is removed at the time of cardiac catheterisation.

Ebstein-like abnormalities of the tricuspid valve, may also occasionally be seen in conditions such as Tetralogy of Fallot and congenitally corrected transposition of the great arteries.

It is important to understand that Ebstein's anomaly is not just a valve disease because it can also involve the heart muscle.

If you have Ebstein's, it is vital that you are seen and assessed in a specialist GUCH centre where GUCH cardiologists agree the necessary investigations and treatment that are right for you.

Tricuspid valve

The normal tricuspid valve usually has three attachments (called leaflets), which hold the valve in place by connecting to the tricuspid valve annulus (the valve ring), which is part of the supporting structure of the heart.

In Ebstein's, there is an abnormality of the tricuspid valve and right ventricle in which the septal and posterior leaflet attachments are displaced down into the right ventricle towards the apex or point of the heart.

As a result of this, the position of the valve is abnormal so that part of the right ventricle becomes incorporated into the right atrium, becoming 'atrialised'.

As the valve ring itself is large, the valve is unable to close completely so there is a lot of regurgitation (leaking) and the right atrium becomes enlarged. In addition to the valve leak, the heart muscle in the right sided pumping chamber may be abnormal.

The abnormality of the tricuspid valve can vary from mild to severe, which will affect the onset and severity of symptoms and means that no two cases are the same. In other words, the appearance of symptoms depends on the severity of the valve abnormality and may present at any age.

We don't know how many people have Ebstein's because it can be mild and people may have no symptoms over decades until they are diagnosed. On the other hand, it can be very apparent in newborn babies or later on in life and can be so severe that surgery is necessary. To make matters more complicated, different types of valve repair surgery may be performed. However, it is important to emphasise that people with Ebsteins' Anomaly can have a good quality of life.

Symptoms and Surgery

Key symptoms are irregular heartbeat (arrhythmia), breathlessness, fatigue, poor exercise tolerance, chest pain and peripheral (blue discolouration of the finger and toe nails) and/or central cyanosis (bluish tinge of the skin).

The usual indications for surgery are the appearance of heart failure, cyanosis, arrhythmia and deteriorating exercise capacity. The European Society of Cardiology recommends that surgery should be performed in patients with more than moderate tricuspid valve regurgitation and the presence of symptoms.

The aim of surgery is to repair the valve. If this is not possible a valve replacement will be performed. Surgery to treat the arrhythmia may also be required at the same time.

Anatomical approach

The surgery for Ebstein's anomaly has been performed by only a few pioneering surgeons.

In recent years, eminent Brazilian cardiologist, Dr Da Silva proposed a radical way of repairing the Ebstein's tricuspid valve using an anatomical approach.

The repair is to construct a cone or funnellike valve out of the patient's own tissue. The large valve ring is reduced in size. The repaired cone shaped valve is then attached to the valve ring. The repaired cone valve opens with central blood flow and closes with all the leaflet tissue.

The cone repair programme started in 2009 at the Heart Hospital in London. From 2009- 2011, eight adult patients (plus 11 patients at Great Ormond Street Hospital) with Ebstein's Anomaly have undergone surgery. Pre- and post-operative evaluation was undertaken, including MRI and exercise testing with a follow-up 12 months after the operation.

Results

This surgical technique has been performed in 100 patients with a good clinical outcome and no need for tricuspid valve replacement. Echo results showed good anatomic and functional tricuspid valves at immediate and long-term post-operative follow-up.

Symptomatic improvement was reported in seven out of eight adult patients. The remaining patient needed re-operation to stabilise the valve ring repair, which was successful. The right heart circulation appears more efficient with more forward flow and less tricuspid valve leak. In addition, the left heart fills better and produces more pumping action.

This initial experience of the cone tricuspid valve repair in adults is promising and will be supported with ongoing assessment of further patients.

First published in GUCH News issue 70, Autumn 2012.

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