2017 年第 12 期 第 12 卷

胎儿右心室双出口尸检25例临床病理分析

作者：武迎陈东商建峰方微付稳滕飞崔亚艳于玮朱庆

英文作者：

单位：100029首都医科大学附属北京安贞医院病理科北京市心肺血管疾病研究所

英文单位：

关键词：先天性心脏畸形；右心室双出口；室间隔缺损；肺动脉狭窄；左心室发育不良；多脾综合征；无脾综合征

英文关键词：

• 摘要：

• 目的    分析25例右心室双出口（DORV）胎儿的心脏解剖病理特点。方法    回顾性分析首都医科大学附属北京安贞医院2007年1月至2017年6月胎儿尸体解剖发现的391例先天性心脏畸形标本的病理资料，其中尸检病理诊断DORV标本25例。心脏畸形按照心脏节段分析方法进行观察，分析DORV不同亚型的临床及病理解剖学特点。结果    ①本组尸检病理诊断DORV在先天性心脏畸形标本中占比为6.4%（25/391），男11例、女14例。②本组20例为SDD型，其他少见类型为SDL型2例，ADD型3例。③25例 DORV中简单型16例（64.0%），其中伴主动脉瓣下室间隔缺损10例，伴肺动脉瓣下室间隔缺损（Taussig-Bing畸形）6例。复杂型9例（36.0%），其中伴二尖瓣闭锁或左心室发育不良7例，伴完全性房室间隔缺损（CAVSD）3例。④DORV中多数主动脉位于肺动脉右侧，且2条大动脉呈左右并列发出，这一类型多见于伴主动脉瓣下室间隔缺损；伴肺动脉瓣下室间隔缺损时，主动脉均位于右前位。本组检出大动脉骑跨6例（24.0%）。⑤DORV伴有其他主要心内畸形依次为体-肺静脉连接异常11例（45.8%），动脉导管狭窄或缺如8例（33.3%），主动脉弓异常4例（16.7%），CAVSD 3例（12.0%）；伴有心外畸形者11例（45.8%），主要有马蹄肾、脐膨出、食管闭锁、膈肌裂孔疝、内脏异位综合征、多脾综合征及无脾综合征等。结论    DORV病理解剖形态复杂多样，常伴有复杂的心内外畸形，尸检时应准确探查DORV中室间隔缺损的位置、与大动脉的关系、有无肺动脉狭窄及右心室流出道梗阻等，准确的病理分型可为精准诊疗及分子遗传学机制研究提供重要的基础。

• Clinicopathological analysis of autopsy findings in 25 fetuses with double outlet of right ventricle

  Wu Ying, Chen Dong, Shang Jianfeng, Fang Wei, Fu Wen, Teng Fei, Cui Yayan, Yu Wei, Zhu Qing

  Department of Pathology, Beijing Anzhen Hospital, Capital Medical University, Beijing Institute of Heart Lung and Blood Vessel Diseases, Beijing 100029, China

  Corresponding author: Chen Dong, Email: azchendong@163.com

  【Abstract】Objective    To analyze anatomical and pathological characteristics of 25 fetal double outlet of right ventricle(DORV). Methods    Totally 391 fetal autopsies of congenital heart malformation from January 2007 to June 2017 at Beijing Anzhen Hospital, Capital Medical University were reviewed; 25 cases were diagnosed of DORV. The method of cardiac segmental analysis was used to observe cardiac deformity; pathological features of different subtypes of DORV were analyzed. Results    ①The rate of DORV was 6.4%（25/391）, including 11 cases of male and 14 cases of female. ②There were 20 cases of SDD type, 2 cases of SDL and 3 cases of ADD. ③There were 16 cases（64.0%） of simple types, including 10 cases of DORV with subaortic ventricular septal defect and 6 cases of DORV with subpulmonary ventricular septal defect（Taussig-Bing）. There were 9 cases（36.0%） of complex types, including 7 cases of DORV with mitral atresia/left ventricular dysplasia and 3 cases of DORV with complete atrioventricular septal defect（CAVSD）. ④Aortas in most of the cases were located at right side of pulmonary artery and the 2 main arteries were juxtaposed, which was commonly seen in DORV with subaortic ventricular septal defect; in DORV with subpulmonary ventricular septal defect, aortas in all cases were seen at right anterior side of pulmonary artery. There were 6 cases（24.0%） of main arteries straddling interventricular septum. ⑤DORV was often accompanied by other cardiac malformations, including 11 cases(45.8%) of abnormal body-pulmonary vein connection, 8 cases(33.3%) of arterial duct stenosis/absence, 4 cases(16.7%) of aortic arch anomaly and 3 cases(12.0%) of CAVSD. Extracardiac malformations［11 cases（45.8%）］ in DORV fetuses mainly included horseshoe kidney, omphalocele, esophageal atresia, phrenic hernia, heterotaxia syndrome, polysplenia and asplenia syndrome. Conclusions    DORV has complex pathological features and it is often accompanied by cardiac and extracardic malformations. Location of ventricular septal defect and its relation with main arteries, pulmonary stenosis and pulmonary outflow tract obstruction are important in fetal autopsy to define accurate pathological classification of DORV, which can provide an important basis for precise diagnosis and molecular genetic mechanism study.

  【Key words】Congenital heart malformation;Double outlet of right ventricle;Ventricular septal defect;Pulmonary stenosis;Left ventricular dysplasia;Polysplenic syndrome;Ansplenic syndrome