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 JolfayiJolfayi; Kyomars Abbasi

doi:10.18502/crcp.v10i1.19473

Maziar Karamnejad Research Center for Advanced Technologies in Cardiovascular Medicine, Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran.
Mahdis Nazari Zanjan Metabolic Disease Research Center, Health and Metabolic Disease Research Institute, Zanjan University of Medical Sciences, Zanjan, Iran.
Ehsan Parvas Research Center for Advanced Technologies in Cardiovascular Medicine, Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran.
Reza Elahi Department of Radiology, Zanjan University of Medical Sciences, Zanjan, Iran.
Amir Ghaffari JolfayiJolfayi Cardiovascular Research Center, Rajaie Cardiovascular, Medical, and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Kyomars Abbasi Research Center for Advanced Technologies in Cardiovascular Medicine, Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran.

DOI: https://doi.org/10.18502/crcp.v10i1.19473

Keywords: Partial anomalous pulmonary venous return (PAPVR); Scimitar syndrome; Imperforate anus; VACTERL association; Vaginal agenesis

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.