TY  - JOUR
T1  - Prenatal diagnosis and postnatal outcomes of absent pulmonary valve syndrome: A case series with genetic and hemodynamic insights
AU  - Arslanoğlu, Tuğçe
AU  - Alpay, Verda
AU  - Özyılmaz, İsa
Y2  - 2025
DO  - 10.18621/eurj.1741967
JF  - The European Research Journal
JO  - Eur Res J
PB  - Prusa Medical Publishing
WT  - DergiPark
SN  - 2149-3189
SP  - 1108
EP  - 1116
VL  - 11
IS  - 6
LA  - en
AB  - Objectives:  This study therefore aims to determine the perinatal prognosis and delineate the key risk factors associated with outcomes in fetuses with a prenatal diagnosis of absence of pulmonary valve syndrome (APVS), with particular emphasis on Doppler ultrasound parameters, the presence of extracardiac anomalies, and comprehensive genetic findings - including rare monogenic mutations - as significant contributors to the observed perinatal course.Methods:  This retrospective study included eight fetuses diagnosed with absent pulmonary valve syndrome (APVS) between 2020 and 2024 at a tertiary perinatology referral center. One patient with major extracardiac anomalies was electively terminated and excluded from the outcome analysis. For the remaining seven fetuses, detailed fetal echocardiographic assessments—including cardiac anatomy and Doppler hemodynamic parameters - were evaluated alongside genetic testing results (prenatal and/or postnatal), associated extracardiac anomalies, and postnatal clinical and surgical outcomes.Results:  Among eight fetuses prenatally diagnosed with APVS, one case was electively terminated due to major extracardiac anomalies and excluded from further analysis. All of the remaining seven cases resulted in live births. Four neonates underwent surgical intervention, three of whom survived postoperatively, yielding a surgical survival rate of 75%. Two fetuses that developed hydrops fetalis died in the early postnatal period before surgery could be performed. The overall perinatal mortality rate was 57.1%. Clinically significant genetic anomalies, including trisomy 21, 22q11.2 deletion, and a novel ABAT gene mutation detected via prenatal whole-exome sequencing, were identified in three patients (42.9%). Nonsurvivors were more likely to present with an absent ductus arteriosus and severely dilated pulmonary arteries.Conclusions:  Our study highlights that prognosis is more strongly influenced by prenatal hemodynamic markers - such as pulmonary artery velocities, ductus arteriosus status, and hydrops - than by anatomic subtype. The identification of both common chromosomal anomalies and novel ABAT gene mutations underscores the value of comprehensive genetic evaluation.
KW  - Absent pulmonary valve syndrome
KW  - Fallot tetralogy
KW  - fetal echocardiography
KW  - ABAT gene mutation
KW  - hydrops fetalis
CR  - 1. Recker F, Weber EC, Strizek B, Geipel A, Berg C, Gembruch U. Management and outcome of prenatal absent pulmonary valve syndrome. Arch Gynecol Obstet. 2022;306(5):1449-1454. doi: 10.1007/s00404-022-06397-4.
CR  - 2. Piacentini G, Mastromoro G, Romano V, Riccardi R, Orfeo L. Fetal echocardiographic features of absent pulmonary valve syndrome. Am J Obstet Gynecol. 2022;227(2):331-332. doi: 10.1016/j.ajog.2022.02.023.
CR  - 3. Gottschalk I, Jehle C, Herberg U, et al. Prenatal diagnosis of absent pulmonary valve syndrome from first trimester onward: novel insights into pathophysiology, associated conditions and outcome. Ultrasound Obstet Gynecol. 2017;49(5):637-642. doi: 10.1002/uog.15977.
CR  - 4. Torok K, Brettle E, Desai T, et al. Long-term outcomes in children with absent pulmonary valve syndrome: it is not just fixing the heart. Arch Dis Child. 2021;106(9):877-881. doi: 10.1136/archdischild-2020-320219.
CR  - 5. Chelliah A, Moon-Grady AJ, Peyvandi S, et al. Contemporary Outcomes in Tetralogy of Fallot With Absent Pulmonary Valve After Fetal Diagnosis. J Am Heart Assoc. 2021;10(12):e019713. doi: 10.1161/JAHA.120.019713.
CR  - 6. Szwast A, Tian Z, McCann M, et al. Anatomic variability and outcome in prenatally diagnosed absent pulmonary valve syndrome. Ann Thorac Surg. 2014;98(1):152-158. doi: 10.1016/j.athoracsur.2014.03.002.
CR  - 7. Yang Z, Zhou L. Right aortic arch with mirror image branching accompanied by absent pulmonary valve syndrome and tricuspid stenosis: Prenatal echocardiographic diagnosis of an unusual congenital heart defect. Echocardiography. 2019;36(10):1952-1955. doi: 10.1111/echo.14466.
CR  - 8. Toyokawa T, Inamura N, Kawazu Y, Kayatani F. Circular shunt in fetal absent pulmonary valve with tricuspid stenosis. Pediatr Int. 2023;65(1):e15480. doi: 10.1111/ped.15480.
CR  - 9. Swaminathan S, Agarwal A, Infante JC, Rosenkranz E. Tetralogy of Fallot With Absent Pulmonary Valve and Nonconfluent Pulmonary Arteries: A Management Conundrum. World J Pediatr Congenit Heart Surg. 2020;11(4):NP168-NP171. doi: 10.1177/2150135118775661.
CR  - 10. Sourour W, Powell SK. A Rare Case of Tricuspid Atresia Absent Pulmonary Valve Diagnosed on Fetal Echocardiography. CASE (Phila). 2023;7(12):487-491. doi: 10.1016/j.case.2023.09.002.
CR  - 11. Song Y, Zou YF, Ru YH, Qiu J, Yin H. Absent pulmonary valve syndrome with tetralogy of fallot and patent ductus arteriosus at 14 weeks of gestation and follow-up 2 weeks later: Case report and review of literature. Echocardiography. 2021;38(3):484-487. doi: 10.1111/echo.14936.
CR  - 12. Song J, Xu Y, Jiang Y, et al. The Role of First-Trimester Ultrasound in Detecting Aortic and Pulmonary Valve Agenesis: A Rare Case of Trisomy 13. J Clin Ultrasound. 2025 May 12. doi: 10.1002/jcu.24039.
CR  - 13. Rao S, Najm HK, Stewart RD, Ahmad M, Erenberg F, Yaman M. Tetralogy of Fallot with absent pulmonary valve-When the ductus is present: A case of isolated branch pulmonary artery and review of literature. Echocardiography. 2019;36(5):996-1000. doi: 10.1111/echo.14334.
CR  - 14. Qasim A, Johnson CB, Aly MA, Aly AM. Prenatal Diagnosis and Successful Palliation of Absent Aortic Valve with Hypoplastic Left Heart Syndrome: A Case Report and Review of Literature. AJP Rep. 2019;9(2):e121-e126. doi: 10.1055/s-0038-1677480.
CR  - 15. Murakami T, Lin L, Ishiodori T, Takeuchi S, Shiono J, Horigome H. Prenatal diagnosis of congenital absence of aortic valve associated with restrictive foramen ovale: Hemodynamic features and clinical outcome. J Clin Ultrasound. 2019;47(2):104-106. doi: 10.1002/jcu.22636.
CR  - 16. Monacci F, Bondi T, Canessa C, Chiappa E. 'Absent' pulmonary valve with intact ventricular septum mimicking tricuspid valve atresia: Prenatal diagnosis and postnatal course. J Obstet Gynecol Res. 2019;45(3):714-718. doi: 10.1111/jog.13878.
CR  - 17. Moleiro ML, Guedes-Martins L. Prenatal diagnosis of absent pulmonary valve syndrome. BMJ Case Rep. 2021;14(1):e240567. doi: 10.1136/bcr-2020-240567.
CR  - 18. Inamura N, Takada N, Marutani S. The prenatal diagnosis of a rare circular shunt with absent pulmonary valve syndrome. J Clin Ultrasound. 2022;50(1):86-89. doi: 10.1002/jcu.23031.
CR  - 19. Wertaschnigg D, Jaeggi M, Chitayat D, et al. Prenatal diagnosis and outcome of absent pulmonary valve syndrome: contemporary single-center experience and review of the literature. Ultrasound Obstet Gynecol. 2013;41(2):162-167. doi: 10.1002/uog.11193.
CR  - 20. Nair AK, Haranal M, Elkhatim IM, Dillon J, Hew CC, Sivalingam S. Surgical outcomes of absent pulmonary valve syndrome: An institutional experience. Ann Pediatr Cardiol. 2020;13(3):212-219. doi: 10.4103/apc.APC_111_19.
UR  - https://doi.org/10.18621/eurj.1741967
L1  - https://dergipark.org.tr/en/download/article-file/5053424
ER  -