CHAPTER 8

### PATIENT STORY

A 32-year-old woman presented for evaluation of decreasing exercise tolerance and a loud heart murmur. On physical examination, she had a fixed split second heart sound with a normal pulmonary component. She had a holosystolic murmur at the mid-left sternal border that did not radiate and increased with inspiration. An electrocardiogram (ECG) and echocardiogram were performed. ECG demonstrated right atrial enlargement and a right bundle branch block. Echocardiogram showed apical displacement of the septal and posterior leaflets of her tricuspid valve resulting in severe tricuspid regurgitation. Her clinical findings were consistent with Ebstein's anomaly. Further testing included a functional vo2 exercise stress test. With exercise, she was found to have significant oxygen desaturation to the mid-80s on room air. A subsequent transesophageal echocardiogram showed a patent foramen ovale (PFO) with bidirectional shunting, severe tricuspid regurgitation, and an apically displaced septal leaflet of the tricuspid valve consistent with Ebstein's anomaly. Because of her significant hypoxia with exercise, she underwent a catheter-based closure of her PFO. A repeat exercise study following PFO closure showed normal oxygen saturations with exercise and improved exercise capacity. She was followed with serial imaging that continued to demonstrate the severe tricuspid regurgitation and gradual worsening in her functional capacity. She developed atrial flutter with rapid ventricular rate for which she needed to be cardioverted. She was managed with antiarrhythmic medications and has had no further arrhythmia recurrences. She finally underwent surgical management in the form of a tricuspid valve replacement with a bioprosthetic valve and plication of the atrialized ventricle. The patient had an uneventful postoperative recovery with significant improvement in her functional capacity.

#### CASE EXPLANATION

• This case highlights several important concepts for the long-term complications and management of adult patients with Ebstein's anomaly of the tricuspid valve.

• These include the concerns for atrial arrhythmias, atrial level shunting secondary to an interatrial communication, severity of tricuspid regurgitation, and declining functional capacity.

• Ebstein's anomaly is a rare congenital heart disorder (1/200,000 live births), accounting for about 0.3% to 0.7% of all cases of congenital heart disease (CHD), however this case highlights that Ebstein's anomaly can present later in life since patients can have a wide spectrum of symptoms that may prevent the underlying pathology from being discovered until adulthood.

• Such patients require regular long-term cardiac follow-up with an adult congenital cardiologist to prevent long-term cardiac complications.

#### EPIDEMIOLOGY

• Ebstein's anomaly is a rare congenital heart disease that consists of apical displacement of the septal leaflet of the tricuspid valve and atrialization of the right ventricle. The estimated risk of Ebstein's anomaly in the general population is 1 in 200,000 live births, with males and females being at equal risk.1

• Lithium use during pregnancy has been considered a risk factor for developing Ebstein in the fetus, although the classic case series of "Lithium babies" reported by Weinstein and Goldfield in 1975 showed an extremely high ...

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