Cardiovascular surgery for congenital heart disease associated with trisomy 18

Abstract

Trisomy 18 (T18) is the second most common autosomal trisomy after trisomy 21 (T21). More than 90% of patients with T18 have congenital heart disease (CHD). Patients with T18 also have multiple malformations and severe psychomotor retardation, and their 1-year survival rate is 5%–10%. No criteria for surgical treatment of CHD in patients with T18 have been established. The prognosis of patients with T21 has been signifi cantly improved as surgical treatment of CHD for these patients has become common. However, the prognosis of patients with T18 is still poor, and it has been believed that surgical treatment does not improve their survival. Thus, CHD in this patient population has been managed conservatively. However, since 1990s, cases of heart surgery in patients with T18 have been reported in and outside Japan, and Graham et al. have evaluated the outcome of surgery in many patients with T18 (Table 1). Recently, indications for surgical treatment of CHD in patients with T18 have been discussed more extensively. In patients with T18, the risk of complications associated with surgical treatment of CHD is high, as is the risk of early death due to causes other than CHD. Because no well-defi ned criteria for heart surgery are available for patients with T18, physicians often experience diffi culty when determining whether heart surgery should be performed. In reports advocating surgical treatment of CHD for patients with T18, including that by Kobayashi et al. in this issue, authors have suggested that surgical treatment, when performed with full understanding of the disease by the parents and with their hope for improving their children’s condition, may contribute to improving the life expectancy of patients, discharge from hospital, and improving the quality of life (QOL) of both patients and their family. Opinions supportive of aggressive surgical treatment of CHD for patients with T18 may be based on recent advances in neonatal care. Kosho et al. reported that mechanical ventilation, surgical correction of gastrointestinal and respiratory complications, and active medical treatment of CHD in 24 patients with T18 improved the 1-year survival to 25%. Although these 24 patients did not undergo heart surgery, the fi ndings suggest that multimodality therapy for complications related to T18 may improve at least short-term survival. However, such reports remain scanty. A larger number of cases must be accumulated, as in the above-mentioned report by Kobayashi et al, for development of guidelines for treating these patients. The Genetics & Epidemiology Committee of the Japan Society of Pediatric Cardiology and Cardiac Surgery, of which the author is the chairperson, developed a survey plan to investigate the conditions of patients with T18 in Japan. Some of the results obtained from 15 institutions by the end of 2008 are briefl y summarized as follows.