Bicuspid aortic valve morphology and associated cardiovascular abnormalities in fetal turner syndrome: A pathomorphological study

Klaartje Van Engelen*, Margot M. Bartelings, Adriana C. Gittenberger-De Groot, Marieke J.H. Baars, Alex V. Postma, Emilia K. Bijlsma, Barbara J.M. Mulder, Monique R.M. Jongbloed

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Introduction: 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. Material and Methods: We studied post-mortem heart specimens of 36 TS fetuses and 1 TS newborn. Results: 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. Discussion: 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.

Original languageEnglish
Pages (from-to)59-68
Number of pages10
JournalFetal Diagnosis and Therapy
Issue number1
Publication statusPublished - Jul 2014

Cite this