TY - JOUR
T1 - Bicuspid aortic valve morphology and associated cardiovascular abnormalities in fetal turner syndrome
T2 - A pathomorphological study
AU - Van Engelen, Klaartje
AU - Bartelings, Margot M.
AU - Gittenberger-De Groot, Adriana C.
AU - Baars, Marieke J.H.
AU - Postma, Alex V.
AU - Bijlsma, Emilia K.
AU - Mulder, Barbara J.M.
AU - Jongbloed, Monique R.M.
N1 - Copyright: Copyright 2014 Elsevier B.V., All rights reserved.
PY - 2014/7
Y1 - 2014/7
N2 - 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.
AB - 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.
KW - Bicuspid aortic valve
KW - Congenital heart disease
KW - Fetal development
KW - Genetics
KW - Morphology
KW - Turner syndrome
UR - http://www.scopus.com/inward/record.url?scp=84904394772&partnerID=8YFLogxK
U2 - https://doi.org/10.1159/000357706
DO - https://doi.org/10.1159/000357706
M3 - Article
C2 - 24903004
SN - 1015-3837
VL - 36
SP - 59
EP - 68
JO - Fetal Diagnosis and Therapy
JF - Fetal Diagnosis and Therapy
IS - 1
ER -