Imaging in a Rare Case of Neonatal Arterial Tortuosity Syndrome

Abstract

Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive disorder that affects the connective tissue. The incidence of ATS is not well known and to date only 106 patients have been described in the literature. ATS affects medium and large size arteries, leading to widespread elongation and intensification of the average vessel tortuousness, responsible of several loops and kinks. Like other connective tissue disorders, ATS can present with joint laxity, hernias, pectus excavatum, scoliosis or other musculoskeletal abnormalities, and ocular defects. Due to the extreme variability of clinical symptoms and the fact that ATS has no curative management, prompt diagnosis is of tremendous importance to prevent disease-associated complications. In this situation, imaging techniques have a central role. In this study, we describe a rare case of a male newborn with tortuosity and lengthening of the main arterial and venous medium and large caliber branches with associated aortic coarctation who passed away prematurely. The finding of aortic coarctation in a newborn with ATS has rarely been described in the literature.

Keywords

arterial tortuosity syndrome / SLC2A10 / coarctation of the aorta / connective tissue disorder / aortic elongation sign

Author Contributions

All the authors made substantial contribution to the conception or design of the work and critical revision of the work for important intellectual content. In addition, all the authors approved the final version of the manuscript. Conversely, each author agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Ethical Approval

All the patients (or their relatives/legal guardians) have freely provided written consent for their images to be published and shared for scientific purposes.

Funding

None.

Conflict of Interest

None declared.

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Global Medical Genetics