Prenatal diagnosis of arterial tortuosity syndrome

Abstract

Arterial tortuosity syndrome is a rare connective tissue disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the major arteries. Some patients also have excessively stretchable skin and joint laxity suggestive of a connective tissue disorder. In this report we describe a case with tortuosity of the aorta that was first detected at 35 weeks of gestation. To our knowledge, this is the first case of prenatal diagnosis of arterial tortuosity syndrome. A 23-year-old primigravida was referred to our department for suspected fetal cardiac anomaly at 35 weeks of gestation. She and her partner were consanguineous (cousins), but her medical history was unremarkable. Prenatal echocardiographic examination revealed an abnormal elongation of the pulmonary arteries and a tortuous, elongated abdominal aorta (Figure 1, a–c). Additional ultrasonographic findings were oligohydramnios, hypertelorism and scrotal mass. The family were counseled accordingly. Cordocentesis was performed, revealing a normal male karyotype (46,XY). At term the woman delivered a male infant weighing 2800 g by Cesarean section, with 1- and 5-min Apgar scores of 2 and 7, respectively. Malformations noted at birth were: inguinal hernia, keratoconus, skin and joint laxity (Figure 1d) and hypertelorism. The infant had severe hypotonia, and died in the early neonatal period from respiratory failure. The parents refused an autopsy. Although there was no confirmatory postmortem examination, the prenatal ultrasonographic and postnatal findings were strongly suggestive of arterial tortuosity syndrome. Two-dimensional ultrasound (a), power Doppler (b) and three-dimensional static power Doppler (c) images of the elongated abdominal aorta at the level of the fetal stomach at 35 weeks' gestation. (d) Postnatal photograph of the neonate; note the laxity of the skin. Connective tissue diseases—including Ehlers–Danlos syndrome, Marfan's syndrome, cutis laxa and Menkes disease—present typical features comprising hyperelastic skin, laxity of joints, chest and spine deformities, inguinal, umbilical and diaphragmatic hernia and cardiovascular anomalies. Arterial tortuosity syndrome is a rare condition characterized by elongation and generalized tortuosity of the major arteries including the aorta1-4. It is caused by mutations in SLC2A10, which encodes the facilitative glucose transporter GLUT10. The mode of inheritence seems to be autosomal recessive1. H. Aslan*, K. Gungorduk*, G. Yıldırım*, Y. Ceylan*, * Maternal and Fetal Unit, Department of Obstetrics and Gynecology, Istanbul Bakirkoy Women's and Children's Hospital, Istanbul, Turkey