P32.15: Prenatal diagnosis and autopsy of a case with polysplenia syndrome

Abstract

Heterotaxy syndrome is a rare congenital disorder that appears in 2 different types: right isomerism (asplenia syndrome) and left isomerism (polysplenia syndrome). It occurs in approximately 0.8% of patients with congenital heart disease. Characteristics of the disease are an incomplete or inappropriate lateralisation of atria, thoracic organs and abdominal viscera; an associated hydrops can be found. We report a case of a 34-year-old gravida 2, para 1 with sonographic signs of fetal heterotaxy syndrome at the second trimester scan. Ultrasound examination revealed left isomerism with a complex heart anomaly including a ventricular septal defect and atrioventricular block, a hypertrophic cardiomyopathy, a continuing vena azygos and an interrupted inferior vena cava. The fetal liver was located in a central position. The prognosis was even worse due to a generalized hydrops. Because of the diagnosis the woman decided not to continue with the pregnancy. Labor was induced at 24 weeks of gestation after fetocide by intraamniotic instillation of 0.8 mg Digoxin. Postpartal autopsy verified the prenatal diagnosis of ventricular septal defect, left isomerism of the lungs and atrias. It also showed a venoatrial disconnection on the right side with pulmonary venous drainage into the superior vena cava and into the right atrium. In the abdomen an absent retrohepatic vena cava, pancreas in a central position, non-rotation of the intestines and eleven 4 mm-sized spleens on the left side of the body confirmed the prenatal diagnosis of left isomerism. With high resolution ultrasound it is possible to diagnose left isomerism antenatally. Paidopathologic examination is recommended to confirm the diagnosis of this complex congenital anomaly in detail.