Kaplan L C, Matsuoka R, Gilbert E F, Opitz J M, Kurnit D M
Am J Med Genet. 1985 May;21(1):187-202. doi: 10.1002/ajmg.1320210128.
We present case material and a literature survey to document the association between ectopia cordis and band disruption anomalies. The occurrence of thoracic ectopia cordis with a cephalic-pointing cardiac apex suggests an arrest of cardiac descent at 3 weeks of development, consistent with our finding of ectopia cordis in a 28-day human embryo. Mechanical compression secondary to rupture of the chorion and/or yolk sac at 3 weeks of gestation would interfere with normal cardiac descent and compress the chest, yielding thoracic and pulmonary hypoplasia. Congenital heart defects associated with ectopia cordis may represent deformations secondary to mechanical distortion of the developing heart following early rupture of the chorion and/or yolk sac. As is illustrated by our clinical specimens, tethering of the heart to periumbilical structures by bands could yield thoracoabdominal ectopia cordis. The milder anomaly of cleft sternum, which is also associated with band disruptions, may occur later in development following rupture of the chorion, yolk sac, or amnion.
我们展示病例资料并进行文献综述，以记录心外畸形与条索中断异常之间的关联。胸型心外畸形伴心尖指向头部提示心脏在发育3周时停止下降，这与我们在一个28天的人类胚胎中发现的心外畸形相符。妊娠3周时绒毛膜和/或卵黄囊破裂继发的机械性压迫会干扰心脏正常下降并压迫胸部，导致胸廓和肺部发育不全。与心外畸形相关的先天性心脏缺陷可能代表绒毛膜和/或卵黄囊早期破裂后发育中的心脏机械性扭曲继发的畸形。正如我们的临床标本所示，条索将心脏与脐周结构相连可导致胸腹型心外畸形。同样与条索中断相关的较轻的胸骨裂畸形，可能在绒毛膜、卵黄囊或羊膜破裂后的发育后期出现。
