Familial Scimitar Syndrome with Different Outcomes and Risk Factors

Abstract

Scimitar syndrome is an uncommon congenital heart and lung abnormality, characterized by an aberrant pulmonary venous return to the inferior vena cava, often from the right lung. The clinical manifestation varies greatly in terms of severity and phenotype. We recently observed familial scimitar syndrome, which had both positive and negative outcomes. Besides six additional cases of scimitar syndrome, we investigated risk factors for death. Because of hypoplasia of the right pulmonary artery or lung itself, all infantile cases had heart symptoms before the age of 1 month and concomitant congenital heart disorder was more common. Intracardiac repair or Norwood operation were performed in four of six infants, whereas Norwood operation was deemed contraindicated in one of the remaining two infants. Three of these operative cases died, of whom complex congenital heart diseases were seen in two cases. Airway malformations were seen in all of these fatal cases. Two of six infantile cases had the pulmonary vascular obstructive disease, and one died from an airway deformity. Furthermore, in situations of mortality, the region of the lung supplied by aortopulmonary collateral blood vessels are larger. Our study revealed that infantile-onset of the symptoms of heart failure, the presence of complex congenital heart disease, pulmonary vascular obstructive disease, the presence of congestive heart failure due to aortopulmonary collateral blood vessels, and airway malformations were risk factors for mortality in patients with scimitar syndrome.