A rare case of dichorionic twins concordant for arterial tortuosity syndrome: case report and review of the literature.

Abstract

Introduction: Arterial Tortuosity Syndrome (ATS) is a rare congenital disorder characterized by elongation and tortuosity of the aorta and mid-sized arteries. Additional features typical of connective tissue disorders are usually present, but the clinical presentation of the syndrome can extensively change. The cardiovascular implications are the major source of morbidity and mortality and can be present even during neonatal period, therefore a correct neonatal management is extremely important. However, only few cases of ATS have been suspected or diagnosed prenatally.

Case presentation: In our study we present a rare case of dichorionic twins both affect by ATS, in which the syndrome was suspected antenatally. Moreover, we performed a review of the literature and summarized the main findings identified at prenatal ultrasounds and postnatal examination, in order to help clinicians with the management of this rare diagnosis.

Conclusion: The most suspicious ultrasound prenatal finding of ATS is the elongation and tortuosity of great arteries. When ATS is suspected prenatally, the newborn should be referred immediately after birth to a high specialized center for proper neonatal care. In case of confirmed ATS parents should be counseled regarding the recurrence risk in other pregnancies.