Ebstein Anomaly Clinical Presentation

Updated: Jan 17, 2017
  • Author: Kamran Riaz, MD; Chief Editor: Yasmine Subhi Ali, MD, FACC, FACP, MSCI  more...
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Presentation

History

Patients can have a variety of symptoms related to the anatomical abnormalities of Ebstein anomaly and their hemodynamic effects or associated structural and conduction system disease.

Cyanosis is fairly common and frequently due to right-to-left shunt at the atrial level and/or severe heart failure. It is transient in neonatal life, with recurrence in adult life; it may appear for the first time in adult life. The transient appearance/worsening of cyanosis in adult life is due to paroxysmal arrhythmias; once apparent, the cyanosis progressively worsens.

Fatigue and dyspnea are due to poor cardiac output secondary to right ventricular failure and decreased left ventricular ejection fraction.

Palpitations and sudden cardiac death may occur due to paroxysmal supraventricular tachycardia (SVT) or Wolff-Parkinson-White (WPW) syndrome in as many as one third of patients. Fatal ventricular arrhythmias may also occur due to the presence of accessory pathways.

Symptoms of right heart failure include ankle edema and ascites.

Other less common presenting symptoms include the following:

  • Brain abscess due to right-to-left shunt
  • Bacterial endocarditis
  • Paradoxical embolism, stroke, and transient ischemic attacks
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Physical Examination

Physical findings, like the symptoms, span a spectrum from subtle to dramatic.

Cyanosis and clubbing may occur. Varying degrees of cyanosis occur at various times in life; there is transient worsening with concurrent arrhythmias.

Precordial asymmetry is usually with left parasternal prominence and, occasionally, right parasternal prominence.  An absent left parasternal (ie, right ventricular) lift is an important negative sign.

Jugular venous pulse may be normal owing to a large, thin-walled right atrium, which can absorb the volume and pressure transmitted from the right ventricle through an incompetent tricuspid valve. Large a and v waves appear late in the course of the disease, with development of right heart failure.

Arterial pulses are usually normal. Diminished volume occurs late in the course of the disease due to severe right heart failure and decreased left ventricular stroke volume.

The first heart sound is widely split with a loud tricuspid component secondary to delayed closure of the elongated anterior tricuspid leaflet, which has an increased excursion, often producing a "sail" sound. The mitral component may be soft or absent in the presence of prolonged PR interval. The second heart sound usually is normal but may be widely split when the pulmonary component is delayed due to right bundle-branch block (RBBB).

Additional heart sounds and murmurs may be present, as follows:

  • Third and fourth heart sounds are commonly present, even in the absence of congestive heart failure (CHF). The summation of the third and fourth heart sounds, especially with a prolonged PR interval, can mimic an early diastolic murmur.
  • The holosystolic murmur of tricuspid regurgitation is heard maximally at the lower left parasternal area and sometimes at the apex owing to the displaced location of the tricuspid valve; murmur intensity and duration increase during inspiration.
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