Clinical Guidance
Arterial tortuosity syndrome (ATS) is characterized by widespread elongation and tortuosity of the aorta and mid-sized arteries as well as focal stenosis of segments of the pulmonary arteries and/or aorta combined with findings of a generalized connective tissue disorder. ATS is a highly variable disorder ranging from early mortality during infancy to limited manifestations in adulthood [, , , ]. Most affected individuals are identified in early childhood, often because of a cardiac murmur or cyanosis. Subsequently manifestations of a generalized connective tissue disorder are often observed, prompting an echocardiogram that reveals aortic abnormalities with or without pulmonary artery stenosis. • About 12% of all affected individuals are admitted to the neonatal intensive care unit because of a primary presentation with infant respiratory distress syndrome. Underlying causes may be diverse and include insufficient lung maturation, pulmonary hypertension, and/or diaphragmatic hernia. • Few reports mention cardiorespiratory failure as the initial presentation during infancy or young childhood. • Cutaneous (cutis laxa, stretchable skin) and gastrointestinal (pyloric stenosis, failure to thrive) manifestations have been infrequently reported as the initial presenting symptoms. • Rare patients have been identified initially in adulthood, with joint aches and premature aging as the main presenting features . To date, 106 individuals with ATS and biallelic pathogenic variants in SLC2A10 have been identified [, , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Arterial Tortuosity Syndrome (ATS): Frequency of Select Features
