儿童Loeys Dietz综合征行Bentall手术1例

Case report of Bentall operation for child Loeys Dietz syndrome

对1例生长发育迟缓、全身多发畸形Loeys Dietz综合征(LDS)患儿的临床资料、随访数据及遗传学检测结果进行回顾性分析。患儿,男,3岁3个月,不完全腭裂,双手中指痉挛,疝气,膝关节过伸,心脏彩超示主动脉窦部、升主动脉内径扩张,主动脉瓣中度返流。遗传性心血管基因测序分析提示:TGFβR2基因有一个杂合突变,为错义突变。根据基因检测结果,结合患儿临床特征性表型,诊断为LDS 2型。患儿3岁3个月于广东省人民医院行"主动脉瓣,升主动脉置换术(Bentall)+冠状动脉延长移植(Cabrol)术",术后恢复良好。本例为我国目前报道的接受Bentall手术治疗的最小患儿。LDS累及全身结缔组织和器官,全身动脉尤其是大动脉受累严重、进展速度快。基因检测与临床症状相结合对LDS鉴别诊断具有重要价值。超声心动图是监测儿童LDS心血管病变进展的重要手段,对手术方式、手术时机的选择具有重要指导意义。4岁以下儿童采用Bentall手术也可取得良好预后。

The clinical data,follow-up records and genetic results of a child with growth retardation and systemic multiple malformations,of whom was diagnosed Loeys Dietz syndrome(LDS),were retrospectively analyzed.This was a 3 years and 3 months old boy presented with incomplete cleft palate,spasm of middle fingers in both hands,hernia and hyperextension of knee joint.Color doppler ultrasound showed dilation of aortic sinus and ascending aorta,and mo-derate aortic regurgitation in the child.The analysis of genetic cardiovascular gene sequencing showed that there was a heterozygous mutation in TGFβR2 gene,which was a missense mutation.The child was diagnosed LDS type 2 according to the results of gene detection and clinical characteristics.He underwent"Bentall"aortic valve replacement+coronary artery lengthening transplantation(Cabrol)in Guangdong Provincial People′s Hospital.Postoperative recovery was satisfactory.This is the youngest case of Bentall operation reported in China.Connective tissue and organs are involved in the LDS.Systemic arteries,especially big arteries,are seriously involved and progressing rapidly.The combination of gene detection and clinical symptoms is the great value in the differential diagnosis of LDS.Echocardiography is an important method to monitor the progress of cardiovascular disease in children with LDS,which is important for the selection of surgical methods and timing.Bentall operation can also achieve good prognosis in children under 4 years old.