Cesko I, Hajdú J, Marton T, Tarnai L, Zs Tóth E
Semmelweis Orvostudományi Egyetem, Budapest, I. Szülészeti és Nógyógyászati Klinika.
Orv Hetil. 1998 Nov 15;139(46):2775-8.
The authors report two families with two affected siblings of heterotaxy syndrome. Ivemark syndrome with asplenia and complex cardiovascular malformation occurred in two siblings of the first family. The first affected sibling in the second family had situs inversus, transposition of the great arteries with spleen on the right side of the abdomen. Ivemark syndrome with polysplenia and cardiovascular malformation were present in the second affected sibling of the second family. Autosomal recessive inheritance of Ivemark syndrome was reported in the most of the cases, but there are several cases of autosomal dominant inherited Ivemark syndrome. X-linked inheritance of heterotaxy syndrome is also known. Heterotaxy syndromes could also occurred in chromosomal translocation or deletion in sporadic cases. The molecular genetic studies were not able to find the mutation responsible for heterotaxy syndrome. The diagnosis of heterotaxy syndrome could be made by foetal echocardiography until molecular genetic methods are available. Therefore, in the case of positive anamnesis, foetal echocardiography on the 18-20 weeks of gestation is essential diagnostic method.
作者报告了两个患有内脏反位综合征的患病兄弟姐妹的家庭。第一个家庭的两个兄弟姐妹患有无脾型艾维马克综合征及复杂心血管畸形。第二个家庭中，第一个患病兄弟姐妹患有内脏反位、大动脉转位且脾脏位于腹部右侧。第二个家庭的第二个患病兄弟姐妹患有多脾型艾维马克综合征及心血管畸形。多数病例报告艾维马克综合征为常染色体隐性遗传，但也有一些常染色体显性遗传的艾维马克综合征病例。内脏反位综合征的X连锁遗传也为人所知。散发病例中，内脏反位综合征也可发生于染色体易位或缺失。分子遗传学研究未能找到导致内脏反位综合征的突变。在有可用的分子遗传学方法之前，可通过胎儿超声心动图诊断内脏反位综合征。因此，对于有阳性家族史的病例，妊娠18至20周时进行胎儿超声心动图检查是必不可少的诊断方法。
