Jedele K B, Michels V V, Gordon H, Gilchrist G S
Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905.
Am J Med Genet. 1990 Jul;36(3):333-5. doi: 10.1002/ajmg.1320360318.
Most structural congenital heart defects (CHD) are thought to be multifactorially determined, but the precise causal factors usually are unknown. One may postulate that vascular events, such as hemorrhage in the developing embryo, could influence morphogenesis of the heart. One method of studying this hypothesis is to determine the frequency of CHD in persons with heritable bleeding diatheses and their families. We reviewed retrospectively medical and family histories of 120 hemophilia A and 14 hemophilia B patients seen in our Genetics Department. The family histories included 1,126 maternal relatives of hemophiliac patients. We also reviewed the family histories of 138 patients with X-linked disorders who did not have bleeding diatheses or syndromes associated with CHD; these histories included 960 maternal relatives. There was one confirmed case of a CHD in 134 hemophilia patients, giving a frequency of 0.75% compared to 0.8% in the general population at birth. There was no apparent difference in the frequency of CHD in hemophilia A and B patients compared to the general population or in the relatives of hemophilia patients as compared to control individuals.
大多数结构性先天性心脏病（CHD）被认为是多因素决定的，但确切的致病因素通常尚不清楚。有人可能推测，血管事件，如发育中的胚胎出血，可能会影响心脏的形态发生。研究这一假设的一种方法是确定患有遗传性出血性疾病的患者及其家族中CHD的发生率。我们回顾性地研究了在我们遗传科就诊的120例甲型血友病患者和14例乙型血友病患者的病史和家族史。家族史包括1126名血友病患者的母系亲属。我们还回顾了138例患有X连锁疾病但没有出血性疾病或与CHD相关综合征的患者的家族史；这些病史包括960名母系亲属。134例血友病患者中有1例确诊为CHD，发生率为0.75%，而出生时一般人群的发生率为0.8%。与一般人群相比，甲型和乙型血友病患者中CHD的发生率以及与对照个体相比，血友病患者亲属中CHD的发生率均无明显差异。
