Berdahl L D, Wenstrom K D, Hanson J W
Department of Obstetrics and Gynecology, University of Oklahoma Health Sciences Center, Oklahoma City 73190, USA.
Am J Med Genet. 1995 Apr 10;56(3):304-7. doi: 10.1002/ajmg.1320560318.
To investigate the relationship between congenital heart disease and jugular lymphatic obstruction as manifested in web neck anomaly, we used the Iowa Birth Defects Registry to determine the incidence of congenital heart defects (CHD) in infants with and without web neck. Sixty percent of infants with web neck had CHD, with a high incidence of flow-related defects such as hypoplastic left heart, coarctation, and secundum atrial septal defect. Sixty-eight percent of infants with web neck had a genetic syndrome (37% Down syndrome, 13% Ullrich-Turner syndrome, and 5% Noonan syndrome), and 24% had dysmorphic features consistent with lymphatic obstruction sequence. When infants with Down, Ullrich-Turner, and Noonan syndrome and web neck were compared to infants with the same syndrome but without web neck, those with web neck were significantly more likely to have flow-related heart defects. Infants with Ullrich-Turner syndrome and web neck had an 11-fold higher incidence of coarctation, compared to those with a normal neck. Our data suggests web neck is associated with both flow and nonflow-related heart defects. This association implies a pathogenetic relationship and appears to be independent of causal factors. The finding of web neck or nuchal cystic hygroma on a prenatal ultrasound or newborn examination should prompt a search for CHD.
为了研究先天性心脏病与颈蹼畸形所表现的颈淋巴管阻塞之间的关系，我们利用爱荷华州出生缺陷登记处来确定有和没有颈蹼的婴儿中先天性心脏缺陷（CHD）的发病率。60%有颈蹼的婴儿患有CHD，其中与血流相关的缺陷如左心发育不全、主动脉缩窄和继发孔房间隔缺损的发病率很高。68%有颈蹼的婴儿患有遗传综合征（37%为唐氏综合征，13%为乌尔里希-特纳综合征，5%为努南综合征），24%有与淋巴阻塞序列一致的畸形特征。当将患有唐氏、乌尔里希-特纳和努南综合征且有颈蹼的婴儿与患有相同综合征但没有颈蹼的婴儿进行比较时，有颈蹼的婴儿更有可能患有与血流相关的心脏缺陷。与颈部正常的婴儿相比，患有乌尔里希-特纳综合征且有颈蹼的婴儿主动脉缩窄的发病率高11倍。我们的数据表明颈蹼与血流相关和非血流相关的心脏缺陷均有关联。这种关联意味着一种发病机制关系，且似乎独立于因果因素。产前超声或新生儿检查发现颈蹼或颈部囊性水瘤应促使对CHD进行排查。
