van Engelen Klaartje, Bartelings Margot M, Gittenberger-de Groot Adriana C, Baars Marieke J H, Postma Alex V, Bijlsma Emilia K, Mulder Barbara J M, Jongbloed Monique R M
Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Fetal Diagn Ther. 2014;36(1):59-68. doi: 10.1159/000357706. Epub 2014 Jun 4.
Bicuspid aortic valve (BAV) is common in Turner syndrome (TS). In adult TS, 82-95% of BAVs have fusion of the right and left coronary leaflets. Data in fetal stages are scarce. The purpose of this study was to gain insight into aortic valve morphology and associated cardiovascular abnormalities in a fetal TS cohort with adverse outcome early in development.
We studied post-mortem heart specimens of 36 TS fetuses and 1 TS newborn.
BAV was present in 28 (76%) hearts. BAVs showed fusion of the right and left coronary leaflet (type 1 BAV) in 61%, and fusion of the right coronary and non-coronary leaflet (type 2 BAV) in 39%. There were no significant differences in occurrence of additional cardiovascular abnormalities between type 1 and type 2 BAV. However, all type 2 BAV hearts showed ascending aorta hypoplasia and tubular hypoplasia of the B segment, as opposed to only 55 and 64% of type 1 BAV hearts, respectively.
The proportion of type 2 BAV seems higher in TS fetuses than in adults. Fetal type 2 BAV hearts all had severe aortic pathology, possibly contributing to a worse prognosis of type 2 than type 1 BAV in TS.
二叶式主动脉瓣（BAV）在特纳综合征（TS）中很常见。在成年TS患者中，82% - 95%的BAV存在左右冠状动脉瓣叶融合。胎儿期的数据很少。本研究的目的是深入了解一组发育早期出现不良结局的胎儿TS患者的主动脉瓣形态及相关心血管异常情况。
我们研究了36例TS胎儿和1例TS新生儿的尸检心脏标本。
28例（76%）心脏存在BAV。其中，61%的BAV表现为左右冠状动脉瓣叶融合（1型BAV），39%表现为右冠状动脉瓣叶与无冠状动脉瓣叶融合（2型BAV）。1型和2型BAV在其他心血管异常的发生率上无显著差异。然而，所有2型BAV心脏均表现为升主动脉发育不全和B段管状发育不全，相比之下，1型BAV心脏分别只有55%和64%出现上述情况。
TS胎儿中2型BAV的比例似乎高于成人。胎儿2型BAV心脏均有严重的主动脉病变，这可能导致TS中2型BAV的预后比1型BAV更差。
