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
Feature | % of Personsw/Feature1 | Comment |
|---|
Cardiovascular findings | Aortic tortuosity | 92% |
Tortuosity of other arteries | 80% | — |
Aortic root aneurysm | 16% | Aggressive in young childhood or slowly progressive in adolescence/adulthood |
Pulmonary artery stenosis | 57% | — |
Aortic stenosis | 24% | — |
Other arterial stenosis | 15% | — |
Autonomic dysfunction | 18% | — |
Craniofacial features | Characteristic facial features | ~60% |
Long face | 73% | — |
Downslanted palpebral fissures | 42% | — |
Convex nasal ridge | 37% | — |
Full cheeks | 54% | — |
Micrognathia | 58% | — |
High palate | 49% | — |
Cleft palate / bifid uvula | 7% | Findings of generalized connective |
tissue disorder | Joint hypermobility | 76% |
Joint pain | 26% | Progressive w/age |
Cutis laxa | 31% | — |
Inguinal hernia | 38% | — |
Diaphragmatic/sliding hernia | 29% | Skeletal |
findings | Pectus deformity | 28% |
Arachnodactyly | 30% | — |
Scoliosis | 22% | — |
Eye findings | Keratoconus | 15% |
Myopia | 43% | — |
Other | Respiratory tract | 15% |
Urogenital anomalies | 20% | 1. Cardiovascular involvement. The cardiovascular system is the major source of morbidity and mortality. Cardiovascular manifestations include congenital widespread tortuosity of the large and mid-sized arteries. |
Source: GeneReviews — "Arterial Tortuosity Syndrome"
