A síndrome de tortuosidade arterial (ATS) é uma doença rara do tecido conjuntivo caracterizada por tortuosidade e alongamento das artérias de grande e médio calibre e propensão à formação de aneurismas, dissecção vascular e estenose das artérias pulmonares.
Introdução
O que você precisa saber de cara
A síndrome de tortuosidade arterial (ATS) é uma doença rara do tecido conjuntivo caracterizada por tortuosidade e alongamento das artérias de grande e médio calibre e propensão à formação de aneurismas, dissecção vascular e estenose das artérias pulmonares.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 31 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 95 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Facilitative glucose transporter required for the development of the cardiovascular system
Endomembrane systemCytoplasm, perinuclear region
Arterial tortuosity syndrome
An autosomal recessive disorder characterized by tortuosity and elongation of major arteries, often resulting in death at young age. Other typical features include aneurysms of large arteries and stenosis of the pulmonary artery, in association with facial features and several connective tissue manifestations such as soft skin and joint laxity. Histopathological findings include fragmentation of elastic fibers in the tunica media of large arteries.
Variantes genéticas (ClinVar)
164 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 506 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de tortuosidade arterial
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
1 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
A giant hiatal hernia with a congenital diaphragmatic hernia in a pediatric patient with arterial tortuosity syndrome: a case report.
Congenital diaphragmatic hernia (CDH) is a rare condition, with many affected patients remaining asymptomatic, while others may present with non-specific respiratory manifestations. The coexistence of a CDH and a giant hiatal hernia is particularly uncommon. We report the case of a pediatric patient presenting with both a giant hiatal hernia and a CDH, accompanied by distinctive facial features. The initial presentation included poor oral intake and abnormal chest sounds, as observed by the patient's mother. A diagnostic evaluation using chest radiography and computed tomography confirmed the presence of both hernias. Subsequent genetic testing identified arterial tortuosity syndrome. The patient underwent primary surgical repair of both defects, along with partial fundoplication. The procedure was uneventful, and postoperative monitoring was carried out closely. Postoperatively, the patient developed dumping syndrome, which was successfully managed with octreotide. The patient demonstrated excellent clinical outcomes during follow-up.
Thoracic Aortic Aneurysm Following Blunt Trauma in a Patient with a Monoallelic SLC2A10 Variant: A Case Report.
A female in her early 40s with no skeletal abnormalities was incidentally found to have a 45-mm saccular aneurysm at the aortic isthmus during evaluation for pharyngitis. She had sustained blunt trauma 20 years earlier, resulting in multiple fractures and pneumothorax. Her family history included premature vascular or sudden death and scoliosis. Imaging showed no arterial tortuosity. She underwent successful open surgical repair. Histologic examination revealed disorganized elastic fibers with irregular thickening and partial loss of lamellar architecture. Postoperative genetic testing identified a heterozygous missense variant in SLC2A10, suggesting a possible association between monoallelic variants and vascular fragility.
Arterial tortuosity syndrome.
Arterial tortuosity syndrome (ATS) is a rare, autosomal recessive, connective tissue disorder. It causes elongation and tortuosity of large and medium-sized arteries with consequent dilatation and/or stenosis. Other features of ATS include: skin/joint laxity, hernia formation, distinct facial features, cardiac valvular regurgitation and other cardiac abnormalities.We present a woman in her early 20s, who presented with mitral regurgitation and was referred for genetic testing due to her tall stature, as Marfan's syndrome was suspected. However, genetic testing revealed she had ATS. Subsequent MR Angiography illustrated a significantly tortuous arterial anatomy. Differentiating ATS from other connective tissue disorders allows planning of future screening and management.
Arteriopathies: Too big to be true.
Arteriopathies in early childhood present significant diagnostic challenges due to phenotypic overlap between Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, and hereditary cutis laxa. We report a 2-year-old male, born of consanguineous parentage, evaluated for persistent cough and hypertension. Clinical features included coarse facies, pectus excavatum, and mild hepatomegaly. Echocardiography revealed a massively dilated ascending aorta (56 mm), aortic annular dilatation, moderate aortic insufficiency, and severe post-subclavian coarctation with marked post-stenotic dilatation. CT angiography demonstrated diffuse tortuosity of thoracic and abdominal aorta with tracheobronchial compression. The constellation of findings strongly suggested arterial tortuosity syndrome (ATS), but confirmation was not feasible due to loss to follow-up. Recognition of such dramatic vascular presentations is essential, as management differs from related disorders. This case highlights the importance of maintaining a high index of suspicion for ATS in young patients with extreme aortic dilatation and diffuse arterial tortuosity.
Radiologic Diagnosis of Arterial Tortuosity Syndrome in a Pediatric Patient: A Case Report.
Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disease. It is mainly featured by elongation and tortuosity of the large and medium-sized arteries, along with connective tissue manifestations. In this report, we present a case of a one-year-old male who was diagnosed during the neonatal period after an episode of desaturation at birth, which required admission to the neonatal intensive care unit (NICU) for respiratory support. Imaging revealed tortuosity and kinking of the aortic arch along with left main pulmonary artery stenosis. The family was counselled and offered genetic testing. A multidisciplinary team meeting was held, which concluded with planning for left pulmonary stenosis stenting. The aim of this case is to emphasize the importance of early recognition and diagnosis of rare conditions like ATS through imaging in situations where genetic testing is unavailable.
Publicações recentes
Thoracic Aortic Aneurysm Following Blunt Trauma in a Patient with a Monoallelic SLC2A10 Variant: A Case Report.
Arteriopathies: Too big to be true.
A giant hiatal hernia with a congenital diaphragmatic hernia in a pediatric patient with arterial tortuosity syndrome: a case report.
Radiologic Diagnosis of Arterial Tortuosity Syndrome in a Pediatric Patient: A Case Report.
Congenital Diaphragmatic Hernia and Joint Laxity: A Putative Link with Heritable Connective Tissue Disorders.
📚 EuropePMC110 artigos no totalmostrando 144
Thoracic Aortic Aneurysm Following Blunt Trauma in a Patient with a Monoallelic SLC2A10 Variant: A Case Report.
Annals of vascular diseasesArteriopathies: Too big to be true.
Annals of pediatric cardiologyA giant hiatal hernia with a congenital diaphragmatic hernia in a pediatric patient with arterial tortuosity syndrome: a case report.
Frontiers in pediatricsRadiologic Diagnosis of Arterial Tortuosity Syndrome in a Pediatric Patient: A Case Report.
CureusCongenital Diaphragmatic Hernia and Joint Laxity: A Putative Link with Heritable Connective Tissue Disorders.
GenesArterial tortuosity syndrome.
BMJ case reportsArterial Tortuosity Syndrome: A Longitudinal Assessment of Cardiovascular Features and Interventions From the Collaborative for Longitudinal Aortic Research in the Young (CLARITY).
American journal of medical genetics. Part AArterial Tortuosity Syndrome: A Rare Cause of Pulmonary Hypertension.
Archivos de bronconeumologiaArterial tortuosity syndrome in a newborn.
Pediatric radiologyCongenital cervical lung herniation in an infant with arterial tortuosity syndrome.
Respiratory medicine case reportsSurgical Repair of the Aorta in a Neonate With Arterial Tortuosity Syndrome.
World journal for pediatric & congenital heart surgeryVascular architecture-on-chip: engineering complex blood vessels for reproducing physiological and heterogeneous hemodynamics and endothelial function.
Lab on a chipArterial Tortuosity Syndrome: Keys to Early Diagnosis and Report of a New Mutation.
CASE (Philadelphia, Pa.)Cervical arteries tortuosity and its association with dissection: A systematic review and meta-analysis.
MedicineUnderstanding the Spectrum of Mild Clinical Outcomes and Novel Findings in Arterial Tortuosity Syndrome Among Qatari Patients: Implications of SLC2A10 Mutation.
BiomedicinesA Rare Case of Dichorionic Twins Concordant for Arterial Tortuosity Syndrome: Case Report and Review of the Literature.
Fetal diagnosis and therapyCervical Artery Tortuosity Is Associated With Dissection Occurrence and Late Recurrence: A Nested Case-Control Study.
StrokeClinical Significance of Coronary Artery Tortuosity in Chronic Coronary Syndrome and Stable Angina: Insights from Gensini Scores.
Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidirIdentification of Genetic Variants Associated with Hereditary Thoracic Aortic Diseases (HTADs) Using Next Generation Sequencing (NGS) Technology and Genotype-Phenotype Correlations.
International journal of molecular sciencesAortic aneurysm: Correlations with phenotypes associated with connective tissue dysplasia.
Microvascular researchTotal pulmonary arterial reconstruction in a patient with arterial tortuosity syndrome affecting the pulmonary artery: a case report and review of the literature.
Journal of cardiothoracic surgeryAssociation between cervicocerebral artery dissection and tortuosity - a review on quantitative and qualitative assessment.
Acta neurochirurgica[Functional assessment of internal carotid artery tortuosity in patients with multifocal atherosclerosis].
Khirurgiia[Dynamic functional assessment of internal carotid artery tortuosity in patients with multifocal atherosclerosis].
KhirurgiiaGlobal intracranial arterial tortuosity is associated with intracranial atherosclerotic burden.
Scientific reportsArterial Tortuosity Syndrome: A Surprising Cause for Neck Pulsatility.
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular SurgeryGiant aortic aneurysm repair in a child due to arterial tortuosity syndrome.
Cardiology in the youngArterial Tortuosity Syndrome and Hypermobility of Joints - Case Presentation and a Review of Literature.
Materia socio-medicaMultiple vascular malformations in a newborn.
Journal of neonatal-perinatal medicineArterial tortuosity index, a promising imaging marker for early detection of Loeys-Dietz syndrome.
Kardiologia polskaAssociation between arterial tortuosity and early neurological deterioration in lenticulostriate artery infarction.
Scientific reportsArterial tortuosity in pediatric Loeys-Dietz syndrome patients.
American journal of medical genetics. Part AImaging in a Rare Case of Neonatal Arterial Tortuosity Syndrome.
Global medical geneticsVertebral Tortuosity Is Associated With Increased Rate of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome.
Journal of the American Heart AssociationArterial Tortuosity Syndrome: Unraveling a Rare Vascular Disorder.
CureusArterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patients.
European journal of medical geneticsAnomalous origin of the left suprarenal, inferior phrenic arteries and left ovarian artery in a human cadaver.
Anatomical science internationalAssociation of Arterial Tortuosity with Hemodynamic Parameters-A Computational Fluid Dynamics Study.
World neurosurgery[Comparison of pulmonary vascular tortuosity and fractal dimension in patients with chronic thromboembolic pulmonary disease and chronic thromboembolic pulmonary hypertension].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseasesArterial tortuosity syndrome presented as nonvisualization of thoracic aorta in preoperative transthoracic echocardiogram: A case report.
Radiology case reportsUnilateral cerebral arterial tortuosity: Associated with aneurysm occurrence, but potentially inversely associated with aneurysm rupture.
European journal of radiologyRare genetic variation associated with arterial tortuosity syndrome.
JTCVS techniquesNon-hereditary arterial tortuosity syndrome in systemic sclerosis.
The American journal of the medical sciencesRetinal Arterial Tortuosity in Marfan and Loeys-Dietz Syndromes.
Ophthalmology. RetinaOphthalmic Manifestations of Arterial Tortuosity Syndrome: Case Series of Patient and Carriers.
CorneaArterial Tortuosity Syndrome in a Newborn: A Case Report With Literature Review.
CureusAortic tortuosity in Turner syndrome is associated with larger ascending aorta.
The international journal of cardiovascular imagingEMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
American journal of human geneticsTortuosity of branch retinal artery is more associated with the genesis and progress of diabetic retinopathy.
Frontiers in endocrinologyArtery tortuosity in Marfan syndrome.
QJM : monthly journal of the Association of PhysiciansRetinal arterial tortuosity in Ehlers-Danlos syndromes.
Eye (London, England)Challenging echocardiographic pictures of aortic arch: when heart murmur leads to a rare diagnosis.
Cardiology in the youngSurgical repair of peripheral pulmonary artery stenosis: A 2-decade experience with 145 patients.
The Journal of thoracic and cardiovascular surgeryDelayed Development of Aneurysmal Dilatations in Patients with Extracranial Carotid Artery Dissections.
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular SurgeryCoarctation of the Aorta with Arterial Tortuosity Syndrome - A Case Report with Cinematic Rendering.
International medical case reports journalSubarachnoid Hemorrhage from Ruptured Internal Carotid Artery Aneurysm: Association with Arterial Tortuosity.
World neurosurgeryAortic Arch Variations and Supra-aortic Arterial Tortuosity in Stroke Patients Undergoing Thrombectomy : Retrospective Analysis of 1705 Cases.
Clinical neuroradiologyAnesthetic Management of a Patient With Arterial Tortuosity Syndrome Undergoing Cerebral Revascularization Surgery-A Case Report.
A&A practiceA rare case of arterial tortuosity syndrome in an adult.
Radiology case reportsA tangled picture: arterial tortuosity syndrome.
European heart journal. Cardiovascular ImagingIntracranial Vascular Tortuosity in an Infant With Dysmorphic Facies.
Pediatric neurologyNeonatal Arterial Tortuosity and Adult Aortic Aneurysm-Is There a Missing Link?-A Case Report.
Frontiers in pediatricsArterial Tortuosity and Its Correlation with White Matter Hyperintensities in Acute Ischemic Stroke.
Neural plasticityUltrastructure abnormalities of collagen and elastin in Arab patients with arterial tortuosity syndrome.
Journal of cutaneous pathologyCorneal stromal deposits in connective tissue disease, a case series.
American journal of ophthalmology case reportsNeurovascular abnormalities in patients with Loeys-Dietz syndrome type III.
European journal of medical geneticsIncreased intracranial arterial tortuosity is associated with worse cardiovascular outcome in patients with Loeys-Dietz syndrome.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia[Pathological tortuosity of extracranial arteries: a problem long known, but not yet solve].
Angiologiia i sosudistaia khirurgiia = Angiology and vascular surgeryMiddle cerebral arterial bifurcation aneurysms are associated with bifurcation angle and high tortuosity.
Journal of neuroradiology = Journal de neuroradiologieArterial tortuosity syndrome causing recurrent transient ischemic attacks in young adult: a case report.
BMC neurologyConnective Tissue Disorders and Cardiovascular Complications: The Indomitable Role of Transforming Growth Factor-β Signaling.
Advances in experimental medicine and biologyArterial tortuosity syndrome: relevance in pediatric surgery. A case report.
Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia PediatricaTwo fetuses in one family of arterial tortuosity syndrome: prenatal ultrasound diagnosis.
BMC pregnancy and childbirthCutting balloon angioplasty on branch pulmonary artery stenosis in pediatric patients.
Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & InterventionsA case of distal limb arterial tortuosity and dilation: observations and potential clinical significance.
Folia morphologicaRetinal Vessel Phenotype in Patients with a History of Retinal Vein Occlusion.
Ophthalmic researchLate Outcomes After Pulmonary Arterial Reconstruction in Patients With Arterial Tortuosity Syndrome.
The Annals of thoracic surgeryDoes Carotid Artery Tortuosity Play a Role in Stroke?
Canadian Association of Radiologists journal = Journal l'Association canadienne des radiologistesIncreased Internal Carotid Artery Tortuosity is a Risk Factor for Spontaneous Cervicocerebral Artery Dissection.
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular SurgeryAortic and supra-aortic arterial tortuosity and access technique: Impact on time to device deployment in stroke thrombectomy.
Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciencesDealing with kinked and swirled pulmonary vessels: surgical treatment of arterial tortuosity syndrome: a case report.
Cardiology in the youngNeurovascular manifestations in connective tissue diseases: The case of Marfan Syndrome.
Mechanisms of ageing and developmentFirst antenatally confirmed case of arterial tortuosity syndrome.
Cardiology in the youngVisual Diagnosis: A Case of Stretchy Skin and Vascular Abnormalities.
Pediatrics in reviewSlc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects.
Human molecular geneticsIncreased visceral arterial tortuosity in Marfan syndrome.
Orphanet journal of rare diseasesMorphological Analysis of Retinal Microvasculature to Improve Understanding of Retinal Hemorrhage Mechanics in Infants.
Investigative ophthalmology & visual scienceSurgical Repair of Peripheral Pulmonary Artery Stenosis in Patients Without Williams or Alagille Syndromes.
Seminars in thoracic and cardiovascular surgeryArterial tortuosity syndrome: a late and unexpected diagnosis and description of a novel likely pathogenic mutation.
Revista espanola de cardiologia (English ed.)Genetics of syndromic and nonsyndromic aortopathies.
Current opinion in pediatricsArterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder?
Antioxidants & redox signalingA Rare Case of Arterial Tortuosity Syndrome.
European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular SurgeryCorkscrew aortic arch in PHACES syndrome: Multimodal imaging of an unusual morphology of tortuous aortic arch in a rare but well-defined syndrome.
Annals of pediatric cardiologyAssociation of arterial stiffness with aortic calcification and tortuosity.
MedicineComprehensive in silico Study of GLUT10: Prediction of Possible Substrate Binding Sites and Interacting Molecules.
Current pharmaceutical biotechnologyVascular tortuosity of the internal carotid artery is related to the RNF213 c.14429G > A variant in moyamoya disease.
Scientific reportsAnesthetic management of a pediatric patient with Loeys-Dietz syndrome: A case report.
Paediatric anaesthesiaA Severe Form of Arterial Tortuosity Syndrome Presenting With Significant Airway Obstruction in an Infant.
World journal for pediatric & congenital heart surgeryArterial Tortuosity Syndrome in a Term Neonate.
The Annals of thoracic surgeryHybrid Arch Frozen Elephant Trunk Repair of Complex Arch Aneurysm With Severe Arterial Tortuosity.
Innovations (Philadelphia, Pa.)Progression of arterial toursosity syndrome to multiple aneurysms: Role of defining aortic flow and biomechanics.
Global cardiology science & practiceDecreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients.
Oxidative medicine and cellular longevityTortuosity of the superficial femoral artery and its influence on blood flow patterns and risk of atherosclerosis.
Biomechanics and modeling in mechanobiology[Arterial tortuosity syndrome in a paediatric patient].
Anales de pediatriaClinical Variability in Two Macedonian Families with Arterial Tortuosity Syndrome.
Balkan journal of medical genetics : BJMGHemodynamic investigation of a patient-specific abdominal aortic aneurysm with iliac artery tortuosity.
Computer methods in biomechanics and biomedical engineering[Autosomal dominant syndrome of retinal arterial tortuosity: A case report].
Journal francais d'ophtalmologieComparative gene array analyses of severe elastic fiber defects in late embryonic and newborn mouse aorta.
Physiological genomicsPharmacological resources, diagnostic approach and coordination of care in joint hypermobility-related disorders.
Expert review of clinical pharmacologyObstetric Management of Loeys-Dietz Syndrome.
Obstetrics and gynecologyMultifaced Roles of the αvβ3 Integrin in Ehlers-Danlos and Arterial Tortuosity Syndromes' Dermal Fibroblasts.
International journal of molecular sciencesArterial tortuosity syndrome: An extremely rare disease presenting as a mimic of pulmonary sling.
Radiology case reportsA Rare Case of Prenatally Diagnosed Arterial Tortuosity.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in MedicineSevere neonatal hypertension revealing arterial tortuosity syndrome.
Kidney internationalArterial tortuosity syndrome: 40 new families and literature review.
Genetics in medicine : official journal of the American College of Medical GeneticsTortuous internal carotid artery in the oropharynx: a rare cause of a mass.
International journal of oral and maxillofacial surgeryGLUT10 maintains the integrity of major arteries through regulation of redox homeostasis and mitochondrial function.
Human molecular geneticsGLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.
International journal of molecular sciencesAscending Aortic Aneurysm in a Case of Arterial Tortuosity Syndrome: A Rare Tortuous Disorder.
World journal for pediatric & congenital heart surgeryOphthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series.
Ophthalmic geneticsFibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries.
Science advancesArterial tortuosity in patients with spontaneous cervical artery dissection.
NeuroradiologyCervical artery tortuosity is associated with intracranial aneurysm.
International journal of stroke : official journal of the International Stroke SocietyQuantitative Analysis of Extracranial Arterial Tortuosity in Patients with Sickle Cell Disease.
Journal of neuroimaging : official journal of the American Society of NeuroimagingThe pathobiology of vascular malformations: insights from human and model organism genetics.
The Journal of pathologyAssociation between carotid artery tortuosity and carotid dissection: a case-control study.
Journal of neurosurgical sciencesGlucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport.
FEBS lettersSevere Arterial Tortuosity.
World journal for pediatric & congenital heart surgeryMoyamoya disease and artery tortuosity as rare phenotypes in a patient with an elastin mutation.
American journal of medical genetics. Part AExpert Diagnosis of Plus Disease in Retinopathy of Prematurity From Computer-Based Image Analysis.
JAMA ophthalmologyArterial Tortuosity: An Imaging Biomarker of Childhood Stroke Pathogenesis?
StrokeArterial Tortuosity Syndrome reveals function of dehydroascorbic acid in collagen and elastin synthesis: Implications for skin care.
Medical hypothesesRetinal Arterial Tortuosity in Moyamoya Disease.
JAMA ophthalmologyArterial tortuosity in genetic arteriopathies.
Current opinion in cardiologyGLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.
Human molecular genetics[DIAGNOSIS OF ISCHEMIC HEART DISEASE CAUSED BY TORTUOSITY OF CORONARY ARTERIES].
Likars'ka spravaDifferential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.
American journal of medical genetics. Part C, Seminars in medical geneticsA balloon-expandable sheath facilitates transfemoral TAVR in patients with peripheral vascular disease and tortuosity.
Therapeutic advances in cardiovascular diseaseDieulafoy lesion: CT diagnosis of this lesser-known cause of gastrointestinal bleeding.
Clinical radiologyClinical utility gene card for: Arterial tortuosity syndrome.
European journal of human genetics : EJHGCharacteristic anatomical conformation of the vertebral artery causing vascular compression against the root exit zone of the facial nerve in patients with hemifacial spasm.
Acta neurochirurgicaAn experimental assessment of five indices of retinal vessel tortuosity with the RET-TORT public dataset.
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International ConferenceAssessment of vessel tortuosity in retinal images of preterm infants.
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International ConferenceDetection of hypertensive retinopathy using vessel measurements and textural features.
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International ConferenceAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- A giant hiatal hernia with a congenital diaphragmatic hernia in a pediatric patient with arterial tortuosity syndrome: a case report.
- Thoracic Aortic Aneurysm Following Blunt Trauma in a Patient with a Monoallelic SLC2A10 Variant: A Case Report.
- Arterial tortuosity syndrome.
- Arteriopathies: Too big to be true.
- Radiologic Diagnosis of Arterial Tortuosity Syndrome in a Pediatric Patient: A Case Report.
- Congenital Diaphragmatic Hernia and Joint Laxity: A Putative Link with Heritable Connective Tissue Disorders.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:3342(Orphanet)
- OMIM OMIM:208050(OMIM)
- MONDO:0008818(MONDO)
- GARD:774(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q4216194(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar