小儿心肌致密化不全的临床表现及其超声心动图诊断

Clinical features and echocardiography of noncompaction of ventricular myocardium in children

目的 探讨儿童心肌致密化不全（NVM）的临床表现及超声心动图诊断的临床意义。方法 对2002-08—2005-11深圳市儿童医院超声心动图9238例次中确诊45例儿童NVM的超声心动图资料进行回顾分析。结果 超声心动图确诊NVM45例,患病率为0.48%（45/9238）,男29例,女16例,男女比为1.8∶1,年龄3日龄至8岁,平均年龄2.21岁。孤立型31例,非孤立型14例。孤立型临床表现：心前区收缩期Ⅱ~Ⅲ/Ⅵ级杂音6例,X线平片见心影增大3例,室性早搏1例,心衰3例,无临床表现28例。非孤立型临床表现：癫癎2例,紫绀4例,心衰9例,非孤立型14例中合并有先天性心脏病9例,心内膜弹力纤维增生症3例,心脏错构瘤2例。超声心动图示左室型36例（87%）,右室型3例（6.7%）,双室型6例（13%）;随访死于心衰5例（5/45,病死率11%）。结论婴幼儿及儿童心肌致密化不全并非罕见,在先天性心脏病中发生率较高,且易导致小婴儿心衰,临床表现与NVM的大小范围有关,孤立型患儿早期多无临床表现,超声心动图特征性声像图对早期诊断、评价心脏功能、判断预后有重要临床意义。

Objective Noncompaction of the ventricular myocardium （ NVM I is a reportedly rare congenital disorder categorized as unclassified cardiomyopathy by the World Health Organization. It is believed to be due to an arrest in the normal endomyocardial embryogenesis ,but it has been recently proposed as a relatively common form of cardiomyopathy in children. The purpose of this study was to identify the clinical characterization of NVM and diagnostic value of echocardiography in children. Methods We retrospectively reviewed 45 children with NVM evaluated by echocardiography among 9238 persons at Shenzhen Children＇s Hospital from August 2002 to November 2005. Results The prevalence rate of NVM was 0. 48%. There were 16 girls and 29 boys. The average age at presentation was 2. 21 years （ range,3 days to 8 years）. The average duration of follow-up was 2. 2 years （ range ,0. 3 to 3.2 years ）. Five patients died from heart failure during fol- low-up. In 31 patients of isolated NVM, clinical manifestations were cardiac murmur in 6,X-ray heart shadow large in 3, premature ventricualr contraction in one,heart failure in 3 and no subjective symptom in 28. In 14 patients of nonisolated NVM had associated other cardiac anomalies including congenital heart disease （ 9 cases ） , endocardial fibroelastosis （ 3 cases） and heart hamartoma （2 cases l ,and clinical manifestations were epilepsy in 2, cyanosis in 2,heart failure in 9, Echocardiography features of 45patients were a noncompact inner LV myocardial layer and the radio of the noncompacted to compacted layers 〉 2. Left ventricle was involved in 36 patients （ 87% ） , both ventricles were involved in 6 patients （ 13% ） and only the right ventricle in 3 patients（6. 7% I. Conclusion NVM is not a rare disease in children,and asso- ciated morbidity and mortality rates are high ,especially when causing heart failure in infants. Those clinical features concern with noncompaction ventricular limit and position. Patients with isolated NVM are mostly symptomless at early stage. There is clinical significance for early diagnosis and estimating cardiac function by echocardiography in children with NVM.