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

Trisomy 18 (T18) and trisomy 13 (T13) are among the most prevalent autosomal aneuploidies causing severe delay of psychomotor development, congenital heart defects, and other multiple congenital anomalies. Aggressive therapies for patients with either trisomies are not recommended because these diseases are associated with a very high risk of mortality. Recently, some investigators have reported that intensive medical management can extend the life-span of patients with T18 or T13, and some population-based studies have demonstrated a longer survival rate by 5 to 10 years. The characteristics of congenital heart defects in patients with T18 or T13, such as pulmonary vascular obstructive disease, which progresses rapidly in some individuals, are gradually being recognized. However, there are many problems associated with cardiovascular surgery that should first be considered, such as appropriate timing and procedures as well as associated anomalies of other organs. To date, it is not yet clear whether cardiovascular surgery can improve the long-term prognosis of patients with these trisomies. Therefore, cardiovascular surgeries are performed at some institutions but are not even considered at the others. The aim of surgery is not only to prolong the life-span of patients but also to improve the quality of life of the patients and their families. When deciding on medical management strategies, it is essential to provide evidence-based and precise information to families of patients and to consider the best interest of the child and wishes of their families.