Articles

Heterotaxy syndrome comprises a group of congenital anomalies resulting from disrupted left-right axis patterning during embryonic development, leading to an abnormal arrangement of the thoracic and abdominal organs [1]. It is a rare condition, with an estimated prevalence of approximately 1 per 10,000 live births, and is frequently associated with complex congenital heart defects, making it a life-threatening disorder with significant morbidity and mortality [1]. Clinically, heterotaxy syndrome is classified into right atrial isomerism (Ivemark syndrome) and left atrial isomerism. Ivemark syndrome represents the most severe form and is primarily characterized by asplenia, complex cardiovascular anomalies, and abnormal positioning of the thoracoabdominal organs [2]. In this condition, paired organs exhibit right-sided morphology bilaterally, commonly accompanied by functionally univentricular physiology, extensive septal defects, dextrocardia, and extracardiac malformations such as intestinal malrotation and congenital absence of the spleen [2,3]. Asplenia is a hallmark feature that markedly increases susceptibility to overwhelming bacterial infections, while the associated congenital heart defects account for the high morbidity and mortality observed during the neonatal period [2]. Herein, we report the case of a male neonate with clinical and imaging findings consistent with Ivemark syndrome who experienced a rapidly progressive and fatal clinical course during the first week of life. A comprehensive review of the available literature identified only a limited number of published cases and scarce documented evidence. Therefore, this case report is supported primarily by the currently available international literature.