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

Background: The major causes of death in patients with trisomy 18 are heart failure, pulmonary hemorrhage because of congenital heart disease (CHD), and sudden death because of apnea.

Methods: Pulmonary artery banding (PAB) and open lung biopsy for pulmonary arterial hypertension were performed in 19 patients with trisomy 18 and CHD. The pathological findings in the small pulmonary arteries and the patients’ clinical course were analyzed.

Results: The mean age of the patients at the time of open lung biopsy was 40.8±13.0 days. Four patients (21.1%) had medial defects of the small pulmonary arteries and seven patients (36.8%) had hypoplasia of the small pulmonary arteries. Twelve patients (63.2%) had alveolar hypoplasia. The prevalence of these defects was higher in patients with trisomy 18 than in previously reported patients without trisomy 18. Eleven patients (57.8%) had associated convulsions. Overall, 14 (82.4%) of 17 patients who had been weaned from ventilatory support had obstructive apnea. Six patients died, one from sudden death, two from status epilepticus, and three from cardiac-related death (CRD). The correlation between the age at the time of PAB and CRD was significant (p<0.05), as was the correlation between the duration of artificial respiration and the grade of alveolar hypoplasia (p<0.01).

Conclusions: Medial defects and hypoplasia of the small pulmonary arteries, and alveolar hypoplasia were identified in relatively large number of patients with trisomy 18. In addition, many of these patients had risk factors affecting their prognosis. Our findings suggest that if parents request surgical intervention for their children with trisomy 18, the duration of artificial respiration should be kept as short as possible and palliative surgery should be performed as early as possible.