Ebstein Anomaly Surgery Clinical Presentation

Updated: Mar 04, 2019
  • Author: Shabir Bhimji, MD, PhD; Chief Editor: Suvro S Sett, MD, FRCSC, FACS  more...
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The presentation of a patient with Ebstein anomaly varies widely, depending on the severity of the anatomic abnormality. It ranges from severely ill neonates to mildly symptomatic adults (although an initial presentation of an older patient is rare, as only 5% will survive beyond the fifth decade). [23]   

In general, infants and young children may present with cyanosis which is chiefly due to the right-to-left shunt at the atrial level. Older children may present with decreased exercise tolerance, excessive fatigue, and dyspnea. Many patients will complain of palpitations as a reult of the supraventricular tachycardia or Wolff-Parkinson-White syndrome. Older patients may present with right-heart failure and generalized edema.

Some patients may be completely asymptomatic with a murmur detected during a physical examination, or they may have abnormal findings on an electrocardiogram (ECG) or a chest radiograph. [24]  Presenting symptoms are directly related to the severity of tricuspid valve incompetence, the presence or absence of an atrial septal defect, the degree of right and left ventricular dysfunction, and the presence of arrhythmia and associated cardiac defects.

Beyond the neonatal period, most patients present with dyspnea, fatigue, and some degree of cyanosis. In most patients, exercise tolerance is markedly compromised, and maximum oxygen uptake during exercise is less than half of predicted. Despite these findings, growth and development are usually normal.

The most common clinical presentations by age are as follows:

  • Neonates: cyanosis in neonates

  • Infants: heart failure

  • Older children: incidental murmurs

  • Adolescents and adults: arrhythmia and exercise intolerance

Paroxysmal supraventricular arrhythmia occurs in 25-40% of patients; this condition is most often found in teenagers or young adults. [1, 4] Ventricular arrhythmia is also common, and Wolff-Parkinson-White syndrome has been diagnosed in 10-18% of patients. [1, 4] Sudden death due to ventricular arrhythmia may occur in as many as 5-7% of patients. [1] Patients with atrial or ventricular arrhythmia may present with episodes of syncope, near syncope, or recurrent palpitations. Likewise, patients with mild manifestations present as late as the third or fourth decade of life with complaints of palpitation or mild exercise intolerance. The most common causes of death are congestive heart failure, severe hypoxia, and cardiac arrhythmia. [16]


Physical Examination

Upon physical examination, jugular venous distention and a prominent v wave in the jugular pulse may indicate severe tricuspid regurgitation. Heart sounds are usually soft, and the first and second heart sounds are widely split. A systolic murmur of tricuspid regurgitation may be heard along the left sternal border, but this may also be due to right ventricular outflow tract obstruction. The liver may be palpably enlarged, but ascites and peripheral edema are rare. Evidence of significant cyanosis may be seen in the extremities.

In summary, the cardiac examination of a patient with Ebstein anomaly may reveal the following:

  • The jugular venous pressure will show large A and V waves.

  • The presence of cyanosis will be most common in the extremities.

  • Palpation of the chest will reveal left parasternal heave.

  • Both S1 and S2 may be split.

  • If heart failure is present, auscultation may reveal an S3 and an S4.

  • A holosystolic murmur will be present, reflecting tricuspid insufficiency.