A Rare Case of Partial Anomalous Pulmonary Venous Return (Scimitar Syndrome) with Vaginal Agenesis and a History of Infantile Imperforated Anus
-
Maziar Karamnejad
,
Mahdis Nazari
,
Ehsan Parvas
,
Reza Elahi
,
Amir Ghaffari Jolfayi
,
Kyomars Abbasi
Abstract
Scimitar syndrome is a rare congenital cardiac anomaly characterized by abnormal drainage of the right pulmonary veins into the inferior vena cava (IVC). Here, we report the case of a 26-year-old female diagnosed with scimitar syndrome (SS), with a history of imperforate anus and vaginal agenesis, consistent with a VACTERL association. The imperforate anus was identified and treated in infancy, whereas the vaginal agenesis was diagnosed at menarche. Additionally, the patient presented with a large atrial septal defect (ASD) and a hypoplastic right lung alongside SS. This case underscores the potential correlation between SS, vaginal agenesis, and imperforate anus as features within the VACTERL spectrum.
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https://doi.org/10.1016/j.crvasa.2015.08.004
[9] Perchik JD, Wilson CM, Abozeed M, Manapragada PP, Ahmed AN, Singh SP. Adult partial anomalous pulmonary venous return repair and superior vena cava syndrome: a delayed complication of the Warden procedure. Radiol Cardiothorac Imaging. 2022;4(5):e220077. https://doi.org/10.1148/ryct.220077
[10] Solomon BD, Raam MS, Pineda-Alvarez DE. Analysis of genitourinary anomalies in patients with VACTERL (vertebral
anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies, limb abnormalities)
association. Congenit Anom (Kyoto). 2011;51(2):87-91. https://doi.org/10.1111/j.1741-4520.2010.00303.x
[11] Botto LD, Khoury MJ, Mastroiacovo P, Castilla EE, Moore CA, Skjaerven R, et al. The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet. 1997;71(1):8-15. https://doi.org/10.1002/(SICI)1096-8628(19970711)71:1<8::AID-AJMG2>3.0.CO;2-V
[2] Bo I, Carvalho JS, Cheasty E, Rubens M, Rigby ML. Variants of the scimitar syndrome. Cardiol Young. 2016;26(5):941-7. https://doi.org/10.1017/S1047951115001651
[3] Aristizabal AM, Guzmán-Serrano CA, Mondol-Villamil NV, Bolaños-Vallejo LM, Mejia-Quiñones V, Recio-Gómez MA, et al. Clinical characteristics, imaging findings, management, and outcomes of patients with scimitar syndrome at a tertiary referral healthcare center in Colombia. Int J Cardiovasc Imaging. 2024;40(6):1319-28. https://doi.org/10.1007/
s10554-024-03102-1
[4] Fritz CJ, Reutter HM, Herberg U. Scimitar syndrome in a case with VACTERL association. Cardiol Young. 2015;25(3):606-9. https://doi.org/10.1017/S1047951114000924
[5] Wang CC, Wu ET, Chen SJ, Lu F, Huang SC, Wang JK, et al. Scimitar syndrome: incidence, treatment, and prognosis.
Eur J Pediatr. 2008;167(2):155-60. https://doi.org/10.1007/s00431-007-0441-z
[6] Seymour E, Mallory G, Morales-Demori R. Surgical and cardiac catheterization outcomes of scimitar syndrome patients: a three decade single-center experience. Pediatr Cardiol. 2023;44(3):579-86. https://doi.org/10.1007/s00246-022-02965-2
[7] Geggel RL, Gauvreau K, Callahan R, Feins EN, Baird CW. Scimitar syndrome: a new multipatch technique and incidence of postoperative pulmonary vein obstruction. JTCVS Tech. 2020;4:208-16. https://doi.org/10.1016/j.xjtc.2020.07.027
[8] Perri G, Graziani F, Bruno P, Grandinetti M, Lanzillo C, Marziali M, et al. Modified Warden procedure in adult with partial anomalous pulmonary venous connection after previous atrial septal defect repair. Cor Vasa. 2016;58(5):e501-4.
https://doi.org/10.1016/j.crvasa.2015.08.004
[9] Perchik JD, Wilson CM, Abozeed M, Manapragada PP, Ahmed AN, Singh SP. Adult partial anomalous pulmonary venous return repair and superior vena cava syndrome: a delayed complication of the Warden procedure. Radiol Cardiothorac Imaging. 2022;4(5):e220077. https://doi.org/10.1148/ryct.220077
[10] Solomon BD, Raam MS, Pineda-Alvarez DE. Analysis of genitourinary anomalies in patients with VACTERL (vertebral
anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies, limb abnormalities)
association. Congenit Anom (Kyoto). 2011;51(2):87-91. https://doi.org/10.1111/j.1741-4520.2010.00303.x
[11] Botto LD, Khoury MJ, Mastroiacovo P, Castilla EE, Moore CA, Skjaerven R, et al. The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet. 1997;71(1):8-15. https://doi.org/10.1002/(SICI)1096-8628(19970711)71:1<8::AID-AJMG2>3.0.CO;2-V
| Files | ||
| Issue | Vol 10 No 1 (2025): January-February | |
| Section | Case Report(s) | |
| Keywords | ||
| Partial anomalous pulmonary venous return (PAPVR) Scimitar syndrome Imperforate anus VACTERL association Vaginal agenesis | ||
| Rights and permissions | |
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Karamnejad M, Nazari M, Parvas E, Elahi R, Jolfayi A, Abbasi K. A Rare Case of Partial Anomalous Pulmonary Venous Return (Scimitar Syndrome) with Vaginal Agenesis and a History of Infantile Imperforated Anus. CRCP. 2025;10(1):7-11.
