Briard M L, Chauvet M L, Le Merrer M, Frezal J
Arch Fr Pediatr. 1984 May;41(5):313-21.
A familial study was undertaken on 382 probands with transposition of the great vessels, 348 with coarctation of the aorta and 143 with hypoplastic left heart syndrome. It allowed to assess in sibs the frequency of identical congenital heart diseases (respectively 0.15, 0.42 and 3.41%) and of all 7.32%). The epidemiological study did not provide further data worth noting. At the origin of the transposition of the great vessels, tetratogenetic factors are added to genetic factors, whose part is of little importance; hypoplastic left heart syndromes are heterogeneous (recessive autosomal transmission, chromosome abnormalities, sporadic cases). Coarctations of the aorta, which are dependent on different mechanisms are also heterogeneous. It is possible that common factors, whether hereditary or not, play a part on one hand in hypoplastic left heart syndromes and coarctations of the aorta, and, on the other hand, in some congenital heart diseases.
对382例大动脉转位、348例主动脉缩窄和143例左心发育不全综合征的先证者进行了一项家族研究。该研究得以评估同胞中相同先天性心脏病的发生率（分别为0.15%、0.42%和3.41%）以及所有先天性心脏病的发生率（7.32%）。流行病学研究未提供其他值得注意的数据。在大动脉转位的病因中，致畸因素叠加在遗传因素之上，而遗传因素的作用很小；左心发育不全综合征具有异质性（常染色体隐性遗传、染色体异常、散发病例）。依赖不同机制的主动脉缩窄同样具有异质性。可能无论是遗传性还是非遗传性的共同因素，一方面在左心发育不全综合征和主动脉缩窄中起作用，另一方面在某些先天性心脏病中起作用。
