心脏移植治疗Danon病的多学科综合诊疗

Multi-disciplinary team of the treatment of heart transplantation for Danon disease

目的通过多学科综合诊疗(MDT)模式提高对Danon病的认识及心脏移植手术治疗的效果。方法对1例极为罕见的X染色体显性遗传病——Danon病患者进行心脏移植术前MDT讨论,包括心脏移植手术适应证、术前准备及术后注意事项,并总结MDT在Danon病治疗中的作用。结果术前超声心动检查发现患者处于肥厚型心肌病扩张期,全心衰竭,考虑Danon病终末期心力衰竭。经MDT讨论,术前抗心力衰竭、降低肺动脉压力、主动脉内球囊反搏(IABP)辅助、护肝、加强营养支持等治疗,等待合适供者后行原位心脏移植术,患者术后5 d出现四肢肌无力表现,减少糖皮质激素剂量后肌力逐渐恢复,术后48 d出院,出院时情况良好,出院后继续给予三联免疫抑制方案治疗。患者术后6个月复查情况良好,心电图、超声心动图未见异常。结论Danon病相当罕见,通过MDT模式可提高心脏移植手术治疗的有效性及安全性。

Objective To improve the understanding of Danon disease and the efficacy of heart transplantation by multi-disciplinary team(MDT)pattern.Methods Prior to heart transplantation,MDT consultation was performed on one case of Danon disease,an extremely rare X-chromosome dominant genetic disease.The content of consultation included surgical indication,preoperative preparation and postoperative precaution,as well as the role of MDT in the treatment of Danon disease was summarized.Results Preoperative echocardiography showed that the patient presented with dilated-phase of hypertrophic cardiomyopathy complicated with heart failure,which was considered as Danon disease with end-stage heart failure.After MDT consultation,the patient received the preoperative treatment including anti-heart failure,reduction of pulmonary artery pressure,intra-aortic balloon pump(IABP)assistance,liver protection,strengthening nutritional support,etc.The patient underwent orthotopic heart transplantation after a suitable donor was matched.The patient developed muscle weakness in the limbs 5 days after operation,which was gradually mitigated after reducing the dose of glucocorticoid.At postoperative 48 days,the patient was discharged in good condition and continually treated with triple immunosuppressive regimen after discharge.Reexamination at postoperative 6 months revealed that the patient was in good health without any abnormality in electrocardiogram and echocardiography images.Conclusions Danon disease is extremely rare and MDT pattern may enhance the efficacy and safety of treatment by heart transplantation。