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

Trisomy 18 is a chromosomal abnormality syndrome and is associated with congenital heart disease in approximately 90％ of cases. The most common form of cardiac disease in patients with trisomy 18 is pulmonary arterial hypertension which often causes death from heart failure or pulmonary arterial hypertension-related episodes. Some investigators have recently reported that intensive medical management can extend the lifespan of patients with trisomy 18. Histopathological findings in patients with trisomy 18 often show mild medial hypertrophy of the small pulmonary arteries caused by pulmonary arterial hypertension regardless of severity, with relatively common findings of medial defects and hypoplasia of the small pulmonary arteries. Pulmonary disease-associated upper airway stenosis and alveolar hypoxia are speculated to be associated with complications from pulmonary arterial hypertension. Hence, research on pulmonary circulation, including pulmonary arterial compliance, is being conducted, and discussions on the pros and cons of intracardiac repair for congenital heart disease are being held to improve the long-term prognosis of patients with trisomy 18. We hope that further accumulation of evidence from multiple perspectives will help in the decision-making regarding the treatment process and improve the quality of life of patients with trisomy 18 and their families.