Background: ‘Arterial Tortuousity Syndrome (ATS)’ is a rare autosomal recessive connective tissue disorder characterized by cutis laxa, elongation and tortuosity of large and medium arteries and typical phenotypic features. Many of the patients reported are older children and adults. Mutation of SCL2A10 gene (chromosome 20q13) is a proposed etiology.
Objectives: To describe phenotypic features, arterial manifestations and natural history of 5 infants diagnosed with cutaneous laxity and arterial tortuosity.
Methods: Prospective, hospital-based, observational study conducted at a tertiary care hospital in India. Five consecutive patients with features of the syndrome were serially followed-up.
Results: All 5 patients presented in infancy and belonged to same geographical and ethno-religious background. Consanguinity was present in 2 families. Phenotypic features are depicted in Table, and figures 1,2. All presented with respiratory symptoms, between 1-9 (average 3.5) months of age. Echocardiography and multislice CT revealed marked dilatation and tortuosity of ascending, descending and abdominal aorta, pulmonary arteries, and neck vessels, with narrowing at aortic isthmus, and biventricular hypertrophy in all the patients. Branch pulmonary artery stenosis was present in two. 3/5 patients died in infancy (between 3.5 – 11 months) – terminal event being respiratory failure, which was accompanied by hemoptysis in one patient. Two surviving patients (10 and 14 months old) show significant progression of vascular dilatation with symptoms of resultant airway compression. SCL2A10 mutation has been ruled-out in 3 patients.
Conclusions: This cohort appears to be a unique, more lethal variant of ATS. Genetic studies are underway to identify the underlying mutation.