Arterial Tortuosity Syndrome: Unraveling a Rare Vascular Disorder

Abstract

Arterial tortuosity syndrome (ATS) is a rare genetic disorder characterized by abnormal twists and turns of arteries, leading to cardiovascular complications. This syndrome, first reported around 55 years ago, is inherited in an autosomal recessive manner and affects both genders. ATS manifests primarily in childhood, with arterial abnormalities disrupting blood circulation, increasing shear stress, and causing complications, such as atherosclerosis and strokes. This article reviews the genetics, etiology, pathophysiology, clinical presentation, diagnosis, associated conditions, management, and challenges of ATS. The syndrome's genetic cause is linked to mutations in the SLC2A10 gene, affecting collagen and elastin synthesis. Arterial tortuosity, a complex phenomenon, arises from factors such as vessel elongation, anatomic fixation, and vessel diameter. ATS is one of many conditions associated with arterial tortuosity, including Marfan syndrome and Loeys-Dietz syndrome. Recent studies highlight arterial tortuosity's potential as a prognostic indicator for adverse cardiovascular events. Management requires a multidisciplinary approach, and surveillance and prevention play key roles. Despite challenges, advancements in understanding ATS offer hope for targeted therapies and improved patient care.