Ebstein anomaly combined with unique pulmonary venous abnormality in a 9-month-old child

摘要

Ebstein anomaly is a rare CHD known for its wide spectrum of presentation with the age of diagnosis dependent on the malformation's severity. Here, the authors describe a case of delayed diagnosis of Ebstein anomaly, secondary to lack of medical attention, which resulted in severe tricuspid regurgitation and pulmonary hypertension. Furthermore, the case was complicated by a unique pulmonary venous abnormality. The prevalence of Ebstein anomaly was estimated to be 5.2 per 100,000 live births in the Baltimore-Washington Infant Study.1 This rare disease has a high neonatal mortality (20-40%) with less than 50% surviving to 5 years of age.2 Ebstein anomaly was first described in 1866 by Wilhelm Ebstein.3,4 He based his description of the anomaly on the autopsy of a 19-year-old cyanotic man, noting that the tricuspid valve abnormality was the most significant feature. Since his initial observations, five criteria for the diagnosis of Ebstein anomaly have been established: adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium, a downward displacement of the tricuspid annulus, varying degrees of dilation of the "atrialised" portion of the right ventricle, tethering of the anterior leaflet without fenestra-tions, and dilation of the right atrioventricular junction.5 Even with these defining characteristics, Ebstein anomaly continues to have a wide range of presentation - from the severely symptomatic neonate to the asymptomatic adult - because of the various degrees of leaflet abnormalities, right ventricle dysfunction, and coexisting cardiac abnormalities. Ventricular septal defect, pulmonary outflow obstruction, accessory conduction pathways, mitral valve prolapse, bicuspid aortic valve, and left ventricle noncompaction have been described in combination with Ebstein anomaly. However, to our knowledge, there has been no reported case in the literature of Ebstein anomaly and obstructive pulmonary venous return.