Key result
A male newborn with arterial tortuosity syndrome presented with tortuosity of main vessels and rarely associated aortic coarctation, and passed away prematurely.
Why the study?
Due to extreme clinical variability and lack of curative management, prompt diagnosis of arterial tortuosity syndrome is critical to prevent complications, with aortic coarctation rarely described in affected newborns.
Case Report (n=1)
Highlights the central role of imaging in diagnosing Arterial Tortuosity Syndrome and reports a rare association with aortic coarctation in a newborn.
Rare ATS recognition relies on expert suspicion and genetics; leaves open evidence-based surveillance and intervention protocols.
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.
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Inserra et al. (2023) conducted a case report in Arterial tortuosity syndrome (ATS) with aortic coarctation (n=1). Arterial tortuosity syndrome was evaluated. A male newborn with arterial tortuosity syndrome presented with tortuosity of main vessels and rarely associated aortic coarctation, and passed away prematurely.
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