Four sibs with arterial tortuosity: Description and review of the literature

Abstract

We described four offspring of a consanguineous couple with arterial tortuosity "syndrome" (ATS). The affected children had extensive arterial involvement although the clinical presentations were quite variable. Clinical manifestations included cutis laxa or soft/thin skin, joint laxity or contractures, and arachnodactyly. Aortic tortuosity and pulmonary artery aneurysms with or without peripheral stenoses were demonstrated in all four sibs. All three males had inguinal hernias. Inconsistent facial anomalies were downslanting palpebral tissues, beaked nose, micrognathia, and high-arched palate. Results of collagen type I and type III biosynthesis studies were normal on skin fibroblasts. Histologic findings on autopsy of one affected child showed arterial changes with disruption of elastic fibers of the media and fragmentation of the internal elastic membrane as well as mucosal and transmural necrosis of the stomach, small bowel, colon, and extensive necrosis of the liver. Coronary artery involvement was also seen in this child as well as biventricular hypertrophy. We conclude that ATS is an autosomal recessive connective tissue condition associated with diffuse arterial changes and involvement of the skin, joints, and other organs.

Coronary tortuosity and its role in myocardial ischemia in patients with no coronary obstructions

“…Among the modifications in coronary circulation that occur with the aging process, are the increase of coronary tortuosity with minimal atherosclerotic lesions, calcification and, 3,15 at least in animals, 16 an imbalance between the extension of the capillary network and myocyte hypertrophy. Maximum oxygen consumption is progressively reduced.…”

Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis

“…It has been shown that perturbations in the TGF beta pathway contribute to the pathogenesis of some of the above-mentioned disorders. Despite the dramatic vascular phenotype and associated morbidities [3-6] ATS and LDS are reported to have a natural history permitting survival of several patients to adulthood [2,5-7]. ARCL Type I is characterized by cutis laxa, pulmonary emphysema, umbilical and inguinal hernias and gastrointestinal and vesico-urinary tract diverticuli, described in association with mutations of fibulin-5 [8] [GenBank:BC022280.1] and fibulin-4 [9] [GenBank:AF109121.1].…”

“…ARCL Type I is characterized by cutis laxa, pulmonary emphysema, umbilical and inguinal hernias and gastrointestinal and vesico-urinary tract diverticuli, described in association with mutations of fibulin-5 [8] [GenBank:BC022280.1] and fibulin-4 [9] [GenBank:AF109121.1]. Though each of these disorders has characteristic phenotypic features [2,3,5,7-16], the dominating common features are dilatation, elongation and tortuosity of the large and medium sized arteries.…”

Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families

“…Arterial tortuosity syndrome (ATS; OMIM 208050) is a rare connective tissue disorder characterized by elongation and tortuosity of the greater and systemic arteries (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13). Affected individuals often display aneurysms, dilatation, stenosis, ventricular hypertrophy, elevated blood pressures, and pulmonary and systemic hypertensions.…”