Coarctation of the Aorta with Arterial Tortuosity Syndrome – A Case Report with Cinematic Rendering

Abstract

Coarctation of the aorta (CoA) with arterial tortuosity syndrome (ATS) is a rare hereditary condition characterized by elongation and tortuosity of the medium-and large-sized arteries, pulmonary hypertension, pulmonary artery stenosis, and constriction or narrowing of the aorta. Considering the non-specific indications and the overlap of ATS with other disorders of the connective tissue such as Williams Beuren syndrome (elastin), Marfan syndrome (fibrillin-1) and Ehlers Danlos syndrome (Type III collagen), it is vital to keep a high diagnostic suspicion in the analysis of the condition. We therefore report on a rare occurrence of coarctation of the aorta with arterial tortuosity syndrome in a teenage female who initially presented with severe resistant hypertension, providing additional literature to aid in the differential diagnosis of COA with ATS. Cinematic rendering delivered a markedly enhanced view of the condition, allowing for greater accuracy in the diagnosis.

Imaging in a Rare Case of Neonatal Arterial Tortuosity Syndrome

“…CoA in patients with aortic ATS occurs rarely with only one report of an adult patient described in the literature. 4 It is important to identify and describe why it could benefit from surgical treatment in selected patients. In our case, the patient presented coarctation of the descending aorta, with abrupt narrowing to the isthmus, extending to approximately 2 cm, which led to a progressive increase in blood pressure in the heart chambers of the left and progressive expansion of the left atrium.…”

“…The proximal descending aorta also appeared with altered course, longer than normal, and lateralized (►Fig. 4), with a tendency to extend to the left hemithorax ($3 cm from the vertebral soma in the context of the rib cage) resulting in bronchial compression and lung collapse (►Fig. 5); It also presented right-sided kink near the diaphragmatic hiatus (►Fig.…”

“…CoA in association with ATS is a rare condition, with only a few cases described in the literature. 4 5 …”

“…CoA in association with ATS is a rare condition, with only a few cases described in the literature. 4,5 It is necessary to suspect ATS in newborns who present with typical facial features (micrognathia, convex nasal ridge, hypertelorism, high palate), musculoskeletal alteration with joint laxity (76%), hernia, pectus excavatum (28%), scoliosis or other musculoskeletal abnormalities, and ocular defects, especially if, after imaging examination, an increased vascular tortuosity is evident. 5,6 The main cardiovascular findings reported in literature are aortic tortuosity (92%), tortuosity of other arteries (80%), aortic root aneurysm (16%), pulmonary artery stenosis (57%), focal stenosis of the aorta (24%), autonomic dysfunction (18%), aortic and arterial aneurysms, stenosis of the aortic valve and pulmonary arteries, and ischemic or hemorrhagic events.…”