以心内膜弹力纤维增生症起病的婴幼儿高血压5例临床分析

Infantile hypertension originating from endocardial fibroelastosis in 5 cases

目的 探讨初诊为心内膜弹力纤维增生症(endocardial fibroelastosis,EFE)的高血压患儿临床特征及远期预后。方法 回顾性分析5例以EFE起病的继发性高血压患儿临床资料,包括临床表现、辅助检查、治疗及远期预后。结果 5例均为婴幼儿,起病年龄3个月~1岁5个月,2例生长发育落后;5例患儿均以纳差、气促、多汗伴浮肿、肝大等充血性心力衰竭症状起病,胸部X线均表现为心影球形增大,心电图呈左心室高电压,伴ST-T改变。超声心动图示左心室舒张末期内径明显增大伴收缩功能降低,左室射血分数18%~45%,心内膜弥漫性增厚(4.5~5.7 mm),室壁运动欠协调,运动幅度呈明显一致性减低,5例患儿均符合EFE诊断标准。继发性高血压病因为主动脉弓缩窄2例,婴儿型多囊肾1例,大动脉炎1例,左肾萎缩合并左肾动脉闭塞1例。2例主动脉弓缩窄患儿、1例婴儿型多囊肾患儿起病初期进行3个月EFE内科标准治疗,心功能改善后对主动脉弓缩窄患儿行外科手术治疗,术后1个月左心室舒张末期内径及收缩功能均恢复正常;1例婴儿型多囊肾患儿给予降压药物治疗,10个月后左心室舒张末期内径及收缩功能均恢复正常。1例大动脉炎患儿采用英夫利昔单抗及降压药物治疗,9个月后左心室舒张末期内径及收缩功能均恢复正常。1例左肾萎缩合并左肾动脉闭塞患儿明确病因后给予降压药物治疗,6个月后左心室舒张末期内径及收缩功能均恢复正常。结论 以EFE起病的高血压患儿起病年龄小,多为继发性高血压,积极控制血压并治疗原发病后预后良好;EFE患儿病程中需密切监测血压,有助于明确诊断,减少误诊,改善预后。

Objective To investigate the clinical features and long-term prognosis of hypertensive children with initial diagnosis of endocardial fibroelastosis(EFE).Methods The clinical data of 5 secondary hypertensive infants with the initial diagnosis of EFE were retrospectively analyzed,including clinical manifestations,auxiliary examinations,treatment and long-term prognosis.Results Five infants developed EFE at 3 months to 1 year and 5 months old,in which 2 infants were manifested by growth retardation.All infants were originated from congestive heart failure symptoms such as poor appetite,hortness of breath,sweat and edema,hepatomegaly,etc.The chest X-ray showed spherical enlargement of heart shadow,and electrocardiogram showed high left ventricular voltage with ST-T changes.Echocardiography results showed that the left ventricular end-diastolic dimension increased significantly with decreased left ventricular systolic function,with left ventricular ejection fraction of 18% to 45% and diffuse thickening of endocardium(4.5 to 5.7 mm),ventricular wall motion was uncoordinated,and the range of motion significantly decreased in consistency.All these 5infants met the diagnostic criteria of EFE.The causes of secondary hypertension were coarctation of aorta in 2 cases,infantile polycystic kidney in 1 case,Takayasu's arteritis in 1,and left renal atrophy combined with left renal artery occlusion in 1.Two infants with coarctation of aorta and 1 infant with polycystic kidney received EFE medical standard treatment for 3 months after onset,followed by surgical treatment when the cardiac function was improved,and the left ventricular systolic function and left ventricular end-diastolic dimension returned to normal 1 month after surgery.The infant with polycystic kidney received EFE medical standard treatment for 3 months after onset,and the left ventricular systolic function and left ventricular end-diastolic dimension returned to normal 10 months after antihypertensive medication treatment.The infant with Takayasu's arteritis was treated with infliximab and antihypertensive medication,and the left ventricular systolic function and left ventricular end-diastolic dimension returned to normal 9 months later.The infant with left renal atrophy combined with left renal artery occlusion was given antihypertensive medication treatment after the cause was clarified,and left ventricular systolic function and left ventricular end-diastolic dimension gradually returned to normal 6 months later.Conclusions EFE initials in very young hypertensive infants,and most of them have secondary hypertension.Active control of blood pressure and treatment of primary diseases can achieve a good prognosis.To monitor closely the blood pressure in the course of disease contributes to the clear diagnosis,reducing misdiagnosis and improving prognosis of EFE infants.