关键词: Xia-Gibbs综合征, 　AHDC1基因突变, 　全外显子测序, 　儿童

Abstract: 　Objective　To explore the safety and prognosis of interventional therapy for congenital heart disease (CHD) complicated with left ventricular non-compaction (LVNC) in children. Methods　The clinical data of congenital heart disease complicated with myocardial densification in children treated from January 2016 to October 2017 were retrospective analyzed. The changes of non-compacted layer/compacted layer (N/C) ratio and cardiac function parameters measured by color Doppler echocardiography before and after cardiac interventional therapy were compared. The complications were recorded. Results A total of 25 children (9 boys and 16 girls) were included and the median age was 1 year (0.14~8 years). There were 22 cases of patent ductus arteriosus, 2 cases of atrial septal defect and 1 case of ventricular septal defect. The differences in left ventricular end-diastolic diameter (LVEDD) -Z value and N/C ratio at pre-operation and at postoperative 1, 6 and 12 months were statistically significant (all P<0.05), with the lowest value at 12 months after operation. The LVNC basically disappeared during follow-up in 6 children. However, there was no significant difference in left ventricular ejection fraction (LVEF) between these time points (all P>0.05). There was no correlation among N/C ratio, LVEDD -z value and LVEF value before and at 1, 6 and 12 months after operation (all P>0.05). The median postoperative follow-up was 19 months (12-27 months), and no adverse cardiovascular events or arrhythmias occurred during the follow-up. Conclusions　For Children with CHD complicated with LVNC, when no contraindications exist, interventional therapy is recommended to reduce left to right shunt and cardiac overload. It is conducive to left ventricular myocardial development and ventricular reverse remodeling.

Key words: congenital heart disease, 　left ventricular non-compaction, 　interventional therapy, 　child