Ferencz C, Rubin J D, McCarter R J, Wilson P D, Boughman J A, Brenner J I, Neill C A, Perry L W, Hepner S I, Downing J W
J Med. 1984;15(5-6):337-54.
In a population-based study on congenital cardiovascular malformations (CCVM), the occurrence of heritable coagulopathies among case parents and not among controls raised the possibility of an etiologic association of CCVM with blood disorders. The literature was searched for evidence that such an association could be biologically plausible. Reported embryologic and clinical data provided confirmatory findings. The heart and blood arise from common angiogenic cells; endothelial cells, the first components of the primitive heart, synthesize coagulation factors; resultant osmotic alterations of embryonic fluids could alter early cardiac morphogenesis. Bleeding diatheses are common in cyanotic and acyanotic patients with CCVM and hemostatic disorders have been reported in some families. CCVM and blood disorders are joint components of several malformation syndromes. The hypothesis of an etiologic relationship between HBD and CCVM needs to be tested in multiple research areas. Future experimental studies should be based on current theories of cardiac morphogenesis to include investigations of embryonic blood in genetic blood disorders. Clinical studies should clarify hematologic alterations in CCVM probands and their families.
在一项基于人群的先天性心血管畸形（CCVM）研究中，病例组父母中而非对照组中遗传性凝血病的出现，增加了CCVM与血液疾病存在病因学关联的可能性。检索文献以寻找这种关联在生物学上可能合理的证据。报告的胚胎学和临床数据提供了证实性的发现。心脏和血液起源于共同的血管生成细胞；内皮细胞是原始心脏的首批组成部分，可合成凝血因子；胚胎液由此产生的渗透变化可能会改变早期心脏形态发生。出血性素质在患有CCVM的青紫型和非青紫型患者中很常见，并且在一些家族中也报道过止血障碍。CCVM和血液疾病是几种畸形综合征的共同组成部分。HBD与CCVM之间病因关系的假说需要在多个研究领域进行检验。未来的实验研究应基于当前的心脏形态发生理论，包括对遗传性血液疾病中胚胎血液的研究。临床研究应阐明CCVM先证者及其家族中的血液学改变。
