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Arterial Tortuosity Syndrome



  • Here, we report the first case of ATS presenting with epilepsy. We discussed the possible clinical implications of this rare clinical presentation.[ncbi.nlm.nih.gov]
  • Arterial tortuosity is commonly present in genetically mediated aortic disease.[ncbi.nlm.nih.gov]
  • Summary Arterial tortuosity is commonly present in genetically mediated aortic disease.[doi.org]
  • A 67-year-old man with a history of hypertension presented to medical attention after a syncopal episode.[ncbi.nlm.nih.gov]
  • Arterial tortuosity syndrome (ATS) is a rare hereditary disorder with variable clinical presentation including tortuosity and elongation of the major arteries, often associated with pulmonary artery stenosis, pulmonary hypertension, and skin and joint[ncbi.nlm.nih.gov]
Inguinal Hernia
  • He had hyperextensible skin, atypical facial features and inguinal hernia.[ncbi.nlm.nih.gov]
  • We stress similarities (facial appearance, inguinal herniae, ..) between ATS and autosomal recessive cutis laxa, both being connective tissue disorders disorganizing the elastin network.[ncbi.nlm.nih.gov]
  • Other anomalies are skin hyperextensibility and cutis laxa, joint laxity or contractures of the joints, and inguinal herniae. Histology shows disruption of elastic fibers of the media. These features suggest that ATS is a connective tissue disorder.[ncbi.nlm.nih.gov]
  • He also presented with bilateral inguinal hernia, typical of connective tissue disease that is associated with ATS.[onlinejacc.org]
  • Inguinal hernias are frequent, but diaphragmatic hernias rarely occur. 1, 6 Infants with ATS may develop dyspnoea revealing pulmonary hypertension, due to stenoses of the pulmonary arteries or branches, which can be confirmed by cardiovascular imaging[doi.org]
Pulmonary Valve Stenosis
  • The fifth young patient shows a severe pulmonary valve stenosis in the absence of arterial tortuosity.[ncbi.nlm.nih.gov]
  • Additional cardiovascular findings may include aberrant origin of aortic branches, aortic stenosis, pulmonary artery or pulmonary valve stenosis or stenosis of additional arteries, and vasomotor instability. read more[ctgt.net]
  • […] advertising) ATS Automated Test System ATS Automated Tracking System ATS Action Tracking System ATS Allowance Tracking System (air quality) ATS Applicant Testing Services (London, ON, Canada) ATS Austrian Shilling (former currency code; now EUR) ATS American Turkish[acronyms.thefreedictionary.com]
Respiratory Distress
  • Among these causes, pulmonary infections, like the reported bronchiolitis in Patient 1, playing as trigger events of respiratory distress and acute cardiac failure, are thought to be serious events in young ATS patients [ 2, 12 – 14 ].[ojrd.biomedcentral.com]
  • ., tachypnea and SatO 2 of 83%) were noted soon after birth and given the presence of crackles at lung auscultation, antibiotic therapy and continuous positive airway pressure were started.[ojrd.biomedcentral.com]
Corneal Opacity
  • All five patients with ATS had myopia and thin corneas with an average central corneal thickness of 426 µm, and three had corneal ectasia, two with early keratoconus and one with keratoglobus and deep stromal corneal opacities.[ncbi.nlm.nih.gov]
  • Results: All five patients with ATS had myopia and thin corneas with an average central corneal thickness of 426 mu m, and three had corneal ectasia, two with early keratoconus and one with keratoglobus and deep stromal corneal opacities.[biblio.ugent.be]
Hyperextensible Joints
  • We conclude that patients of Kurdish origin who display arterial tortuosity associated with skin hyperextensibility, joint hypermobility, and characteristic facial features may carry mutations in the SLC2A10 gene.[ncbi.nlm.nih.gov]
  • Additional clinical features present in some of these patients were hyperlax skin and joints, and/or dilation, aneurysms, and stenosis of the pulmonary arteries and ascending aorta.[jmg.bmj.com]
  • […] increased in muscle (228%) – qPCR • Electron transport chain: Normal to increased • Mitochondrial DNA-Blood: no common deletions/mutations • Abnormal EMG: Some myoclonic features with small amplitude MUAP with early recruitment consistent with non-irritable myopathy[epostersonline.com]
Beaked Nose
  • Other typical manifestations are dysmorphic features (including an elongated face, micrognathia, a high palate, and a beaked nose), soft and hyperextensible skin, cutis laxa (see this term), hernias (inguinal, diaphragmatic, or hiatal), skeletal abnormalities[orpha.net]
  • nose with soft cartilage; a high, arched roof of the mouth (palate); a small lower jaw ( micrognathia ); and large ears.[ghr.nlm.nih.gov]
  • They generally present at birth with facial dysmorphism including beaked nose, blepharophimosis, hypertelorism, downslanting palpebral fissures and a small mouth with retrognathism. A hyperextensible skin or mild cutis laxa can exist.[doi.org]
  • nose, high-arched palate. iii) Patient 2 showed elongated face, low-set and anteverted ears, down-slanting palpebral fissures, high nasal bridge.[ojrd.biomedcentral.com]


  • Workup may include systemic vascular imaging to characterize the extent of disease. Antiplatelet therapy can be used for stroke prevention by reducing the risk of clot formation in ectatic vessels with altered hemodynamics and subsequent embolism.[ncbi.nlm.nih.gov]
  • Objectives: To report a pedigree with this disorder and describe a systemic workup to determine whether this vascular abnormality is limited to the eye.[jamanetwork.com]
  • […] suspect cardiovascular disease—shortness of breath, fatigue, irregular heartbeat, pain in chest area or dizziness. 6 If you identify venular dilation in conjunction with other ocular or systemic signs of cardiovascular disease, recommend a cardiovascular workup[reviewofoptometry.com]


  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • We describe our hybrid surgical procedure in the treatment of a case of kinking of the pulmonary branches with significant gradient and hypertension. Aortic arch and supraaortic vessels presented various deviousness without hemodynamic alterations.[ncbi.nlm.nih.gov]
  • The first chapter stresses the etiology and pathophysiology of childhood stroke as the basis for evaluations and treatment.[books.google.com]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • Molecular diagnosis is mandatory to distinguish ATS from other CTDs and to define targeted clinical follow-up and timely cardiovascular surgical or interventional treatment, when needed.[ncbi.nlm.nih.gov]


  • Prognosis The prognosis can be severe (with a mortality rate of up to 12%, usually before the age of 5 years) with respiratory insufficiency, ventricular hypertrophy resulting in global heart failure, myocarditis, and ischemic events leading to organ[orpha.net]
  • Our data confirm that the cardiovascular prognosis in ATS is less severe than previously reported and that the first years of life are the most critical for possible life-threatening events.[ncbi.nlm.nih.gov]
  • The prognosis of this condition has it at about 12% mortality Segade, Fernando (16 July 2010). "Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection". FEBS Letters. 584 (14): 2990–2994. doi:10.1016/j.febslet.2010.06.011.[en.wikipedia.org]
  • Prognosis - Arterial tortuosity Not supplied. Treatment - Arterial tortuosity Aneurysms and focal stenoses are corrected with surgery. Many specialists may be needed for the best managment of the condition. Resources - Arterial tortuosity[checkorphan.org]
  • They could not tell me a diagnosis, a prognosis, other than Aiden was currently stable, but they were going to have to do further surgery if they had any hope of saving him. That night Dr. S.[globalgenes.org]


  • The first chapter stresses the etiology and pathophysiology of childhood stroke as the basis for evaluations and treatment.[books.google.com]
  • Etiology ATS is caused by mutations in the SLC2A10 gene (20q13.12), encoding the facilitative glucose transporter 10 (GLUT10). So far, 18 SLC2A10 mutations have been reported in 34 families.[orpha.net]
  • Virchow’s triad—a term used to describe various etiologies of thrombosis—consists of hemodynamic changes (blood stasis), degenerative and mechanical changes to the vessel wall, and blood hypercoagulability. 1,2 If you observe dilated, tortuous retinal[reviewofoptometry.com]
  • The constellation of abnormalities suggests a genetic syndrome of connective tissue etiology. Further genetic studies, and gene mapping, are underway.[cambridge.org]
  • This fi nding is termed the "thoracic inlet" or "cervicothoracic" sign and helps localize thoracic inlet masses, thereby suggesting the etiology of such lesions -Tortuous arterial structures may be identified by the presence of atherosclerotic calcification[quizlet.com]


  • Summary Epidemiology Prevalence is unknown but less than 80 cases have been described in the literature so far. The male to female ratio is 1:1. Clinical description The clinical manifestations are variable, depending on the arteries affected.[orpha.net]
  • Methods Statistics Trigonometry Medical & Nursing Anatomy Anesthesiology Audiology Bacteriology Biochemistry Bioethics Biomedical Science Cardiology Cardiovascular Childbirth Chiropractic Dentistry Dermatology Diagnostic Imaging Drugs Endocrinology Epidemiology[brainscape.com]
Sex distribution
Age distribution


  • The first chapter stresses the etiology and pathophysiology of childhood stroke as the basis for evaluations and treatment.[books.google.com]
  • The pathophysiological mechanisms underlying the disorder are however largely unknown.[cmgg.be]
  • Focal cerebral arteriopathy is a common syndrome where pathophysiology is unknown but may include intracranial dissection or transient cerebral arteriopathy.[ingentaconnect.com]
  • Usman Javaid, Muhammad Hassaan Ali, Samreen Jamal and Nadeem Hafeez Butt, Pathophysiology, diagnosis, and management of glaucoma associated with Sturge–Weber syndrome, International Ophthalmology, (2017).[doi.org]
  • Paola Marcolongo, Rosella Fulceri, Alessandra Gamberucci, Ibolya Czegle, Gabor Banhegyi and Angelo Benedetti, Multiple roles of glucose-6-phosphatases in pathophysiology, Biochimica et Biophysica Acta (BBA) - General Subjects, 10.1016/j.bbagen.2012.12.013[doi.org]


  • The patient started taking aspirin for stroke prevention and losartan potassium for blood pressure control.[ncbi.nlm.nih.gov]
  • Though ATS clinical delineation improved in the last years, further works in the comprehension of disease presentation and complications onset, particularly in paediatric age, and on ATS molecular basis are needed to add new insights for diagnosis and prevention[ncbi.nlm.nih.gov]
  • Prevention - Arterial tortuosity Not supplied. Diagnosis - Arterial tortuosity Not supplied. Prognosis - Arterial tortuosity Not supplied. Treatment - Arterial tortuosity Aneurysms and focal stenoses are corrected with surgery.[checkorphan.org]

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