Actualización sobre el Síndrome de Heterotaxia en relación a un caso clínico

Update on Fetal Heterotaxy Syndrome in relation to a clinical case

Abstract

Introduction: Heterotaxy syndrome (HS) is a rare congenital malformation that occurs during embryonic development as a result of simultaneous alterations in the primary developmental field. These anomalies disrupt normal left-right lateralization, leading to an abnormal body axis pattern. It is classified into two main variants: right isomerism and left isomerism. The prognosis is primarily determined by the associated cardiac malformations.

Case Presentation: This article presents the case of a patient referred to Maternal-Fetal Medicine due to suspected cardiac anomalies on fetal ultrasound. A more comprehensive diagnostic evaluation was conducted, confirming the presence of HS during the second trimester of pregnancy. The diagnostic process, associated malformations, and clinical follow-up of this case—corresponding to right isomerism—are described.

Discussion: The clinical findings were analyzed and compared with an extensive review of the literature, providing a comprehensive perspective on the diagnostic evaluation, evolution and prognosis of this syndrome. Prenatal detection through fetal echocardiography and magnetic resonance imaging is crucial for characterizing the anatomy and planning individualized care.