Iannucci Glen J, Adisa Olufolake A, Oster Matthew E, McConnell Michael, Mahle William T
Tex Heart Inst J. 2016 Dec 1;43(6):509-513. doi: 10.14503/THIJ-15-5610. eCollection 2016 Dec.
Sickle cell disease is a risk factor for cerebrovascular accidents in the pediatric population. This risk is compounded by hypoxemia. Cyanotic congenital heart disease can expose patients to prolonged hypoxemia. To our knowledge, the long-term outcome of patients who have combined sickle cell and cyanotic congenital heart disease has not been reported. We retrospectively reviewed patient records at our institution and identified 5 patients (3 girls and 2 boys) who had both conditions. Their outcomes were uniformly poor: 4 died (age range, 12 mo-17 yr); 3 had documented cerebrovascular accidents; and 3 developed ventricular dysfunction. The surviving patient had developmental delays. On the basis of this series, we suggest mitigating hypoxemia, and thus the risk of stroke, in patients who have sickle cell disease and cyanotic congenital heart disease. Potential therapies include chronic blood transfusions, hydroxyurea, earlier surgical correction to reduce the duration of hypoxemia, and heart or bone marrow transplantation.
镰状细胞病是儿科人群发生脑血管意外的一个危险因素。低氧血症会使这种风险进一步加剧。青紫型先天性心脏病会使患者暴露于长期低氧血症中。据我们所知，镰状细胞病合并青紫型先天性心脏病患者的长期预后尚未见报道。我们回顾性地查阅了本机构的患者记录，确定了5例同时患有这两种疾病的患者（3名女孩和2名男孩）。他们的预后均很差：4例死亡（年龄范围为12个月至17岁）；3例有记录的脑血管意外；3例出现心室功能障碍。幸存的患者有发育迟缓。基于这一系列病例，我们建议减轻镰状细胞病合并青紫型先天性心脏病患者的低氧血症，从而降低中风风险。潜在的治疗方法包括长期输血、羟基脲、早期手术矫正以缩短低氧血症持续时间，以及心脏或骨髓移植。
