日本小児循環器学会雑誌 Pediatric Cardiology and Cardiac Surgery

Background: Although congenital heart defects are common complications in patients with trisomy 18 (T18), cardiac surgery has rarely been considered because of the short lifespan and severe developmental delay in survivors. In our institute, surgical intervention was not considered until 2004, but it has been a treatment option since 2005 for patients with a prediction of home discharge after surgical improvement of congestive heart failure (CHF).

Objective: This study was planned to clarify the outcome of cardiac surgery in patients with T18, focusing on the improvement of CHF, discharge, and survival.

Methods: We collected detailed clinical information from the medical records of 46 patients with T18, from 1994 to 2012. Cardiac surgery was performed on 16 patients, of whom 14 underwent palliative surgery (Group A) and two underwent primary intracardiac repair (ICR; Group B). The remaining 30 patients received no surgical intervention (Group C).

Results: All patients in Group A survived the perioperative period, and their CHF was relieved. Ten patients in Group A could be discharged to home, with the establishment of enteral nutrition and without the requirement of ventilator support. Three of the 10 patients were alive at the time of this study, whereas the others died of respiratory tract infection after discharge. The rate of discharge was 71% for patients in Group A compared with 23% for those in Group C. The survival rate of patients in Group A was 100% at the age of 1 month, 86% at 3 months, 71% at 6 months, and 29% at 1 year, whereas in patients in Group C, the corresponding rate was 47%, 37%, 13%, and 3%, respectively . The median survival time was 234 days in patients in Group A and 24 days in those in Group C. Among two patients in Group B, one with ventricular septal defect (VSD) and pulmonary stenosis underwent ICR at the age of 7 months, and the other with only VSD underwent ICR at 5 months, both of whom displayed significant relief of CHF and no signs of pulmonary hypertension.

Conclusion: These results suggest that palliative surgery for cardiac defects with CHF in patients with T18 could increase the hospital discharge rate and improve survival. ICR may also relieve CHF and lead to much longer survival. Management of congenital heart defects in patients with T18 should be discussed on an individual basis, and cardiac surgery is considered to be a reasonable treatment option in those with CHF and no other serious complications.