Post
Arterial tortuosity problem (ATS, MIM 208050) try a rare autosomal recessive conjunctive muscle sickness mainly characterized by elongation and you can tortuosity of one’s higher and you can mid-sized arteries and you may defects of your own vascular flexible material [1, 2]. Improvements of your own vascular morphology and you can framework end in a tendency to have aneurysm creation and vascular dissections, focal and you will/or extensive stenosis of your own aorta and you can/or pulmonary arteries, and vasomotor instability. A few years of lives be seemingly the essential critical for probably life-intimidating incidents, such as for example intense breathing insufficiency or other problem connected with pulmonary artery stenosis (PAS) . Arterial tortuosity disorder offers possess with other connective cells conditions, i.age ., Marfan syndrome, Loeys-Dietz syndromes, Cutis laxa and you can Ehlers-Danlos syndromes, namely softer/velvety/hyperextensible surface, facial dysmorphisms ( we.age ., elongated face, hypertelorism, beaked nostrils, highest palate and you may/or bifid uvula, and mini/retrognathia), abdominal hernias, shared hypermobility, congenital contractures, scoliosis and other skeletal anomalies. Genetic data might help when you look at the delineating these types of organizations .
