Lim Joyce S L, McCrindle Brian W, Smallhorn Jeffrey F, Golding Fraser, Caldarone Christopher A, Taketazu Mio, Jaeggi Edgar T
Division of Cardiology, Hospital for Sick Children, University of Toronto, Toronto, Canada.
Circulation. 2005 Oct 18;112(16):2454-61. doi: 10.1161/CIRCULATIONAHA.105.552364. Epub 2005 Oct 10.
Isomerism is associated with a complex spectrum of anomalies. There is paucity of data on prenatally detected cases.
Between January 1990 and February 2004, 83 of 166 cases (50%) had a prenatal diagnosis of left isomerism (LAI; 52 of 97) or right isomerism (RAI; 31 of 69) at our institution. The spectrum of anomalies, management, and outcomes was compared for fetal and postnatal diagnoses of LAI and RAI. RAI more often than LAI was associated with AV septal defect (90% versus 56%; P<0.0001), pulmonary outflow obstruction (91% versus 37%; P<0.0001), total anomalous pulmonary venous drainage (73% versus 13%; P<0.0001), and abnormal VA connections (68% versus 33%; P<0.0001), whereas inferior vena cava interruption (3% versus 93%; P<0.0001), complete AV block (0% versus 13%; P=0.004), aortic obstruction (6% versus 33%; P<0.0001), and extracardiac defects (5% versus 25%; P=0.006) were less common. The spectrum of lesions was comparable for fetal and postnatal cases, except for AV block (fetal, 25%; postnatal, 0%; P=0.0002) and AV septal defect (fetal, 67%; postnatal, 42%; P=0.023) in LAI. Fetal demise was due mainly to pregnancy termination (LAI, 42%; RAI, 45%). Survival of actively managed children with LAI was significantly better than for those with RAI (P<0.0001) but did not differ with regard to fetal versus postnatal diagnosis. Most LAI cases required no intervention or underwent successful biventricular cardiac surgery (65%), unlike RAI cases (13%; P<0.0001).
Prenatal diagnosis did not affect overall survival despite facilitated care. The prognosis of RAI was worse compared with LAI because of more complex associated cardiac defects and the inability to perform successful surgical procedures.
异构现象与一系列复杂的异常情况相关。关于产前检测病例的数据较少。
在1990年1月至2004年2月期间，我院166例病例中有83例（50%）产前诊断为左异构（LAI；97例中的52例）或右异构（RAI；69例中的31例）。比较了LAI和RAI胎儿及产后诊断的异常情况、处理方式及结局。与LAI相比，RAI更常伴有房室间隔缺损（90%对56%；P<0.0001）、肺流出道梗阻（91%对37%；P<0.0001）、完全性肺静脉异位引流（73%对13%；P<0.0001）及异常的动静脉连接（68%对33%；P<0.0001），而下腔静脉中断（3%对93%；P<0.0001）、完全性房室传导阻滞（0%对13%；P=0.004）、主动脉梗阻（6%对33%；P<0.0001）及心外缺损（5%对25%；P=0.006）则较少见。除LAI中的房室传导阻滞（胎儿期，25%；产后，0%；P=0.0002）和房室间隔缺损（胎儿期，67%；产后，42%；P=0.023）外，胎儿和产后病例的病变谱具有可比性。胎儿死亡主要是由于终止妊娠（LAI为42%，RAI为45%）。积极治疗的LAI患儿的生存率显著高于RAI患儿（P<0.0001），但胎儿期与产后诊断的患儿生存率无差异。与RAI病例（13%；P<0.0001）不同，大多数LAI病例无需干预或接受了成功的双心室心脏手术（65%）。
尽管获得了便利的治疗，但产前诊断并未影响总体生存率。由于相关心脏缺陷更复杂且无法进行成功的手术，RAI的预后比LAI更差。
