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Síndrome de tortuosidade arterial
ORPHA:3342CID-10 · Q27.8CID-11 · LD28.YOMIM 208050DOENÇA RARA

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.

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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.

Pesquisas ativas
1 ensaio
1 total registrados no ClinicalTrials.gov
Publicações científicas
143 artigos
Último publicado: 2026

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
102
pacientes catalogados
Início
Childhood
+ infancy
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q27.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

❤️
Coração
17 sintomas
🦴
Ossos e articulações
11 sintomas
😀
Face
9 sintomas
🫃
Digestivo
6 sintomas
🧬
Pele e cabelo
6 sintomas
🧠
Neurológico
5 sintomas

+ 31 sintomas em outras categorias

Características mais comuns

100%prev.
Tortuosidade arterial generalizada
Frequência: 15/15
100%prev.
Face longa
Frequente (79-30%)
93%prev.
Tortuosidade da aorta
Frequência: 14/15
90%prev.
Anormalidade das artérias carótidas
Muito frequente (99-80%)
90%prev.
Insuficiência cardíaca congestiva
Muito frequente (99-80%)
90%prev.
Dilatação
Muito frequente (99-80%)
95sintomas
Muito frequente (10)
Frequente (28)
Ocasional (44)
Muito raro (1)
Sem dados (12)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 95 características clínicas mais associadas, ordenadas por frequência.

Tortuosidade arterial generalizadaGeneralized arterial tortuosity
Frequência: 15/15100%
Face longaLong face
Frequente (79-30%)100%
Tortuosidade da aortaAortic tortuosity
Frequência: 14/1593%
Anormalidade das artérias carótidasAbnormality of the carotid arteries
Muito frequente (99-80%)90%
Insuficiência cardíaca congestivaCongestive heart failure
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico143PubMed
Últimos 10 anos149publicações
Pico202222 papers
Linha do tempo
2026Hoje · 2026🧪 2015Primeiro ensaio clínico📈 2022Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

SLC2A10Solute carrier family 2, facilitated glucose transporter member 10Disease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

Facilitative glucose transporter required for the development of the cardiovascular system

LOCALIZAÇÃO

Endomembrane systemCytoplasm, perinuclear region

VIAS BIOLÓGICAS (1)
Cellular hexose transport
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
46.3 TPM
Tireoide
27.1 TPM
Fígado
23.1 TPM
Glândula salivar
22.9 TPM
Próstata
20.4 TPM
OUTRAS DOENÇAS (1)
arterial tortuosity syndrome
HGNC:13444UniProt:O95528

Variantes genéticas (ClinVar)

164 variantes patogênicas registradas no ClinVar.

🧬 SLC2A10: NM_030777.4(SLC2A10):c.68G>A (p.Gly23Asp) ()
🧬 SLC2A10: NM_030777.4(SLC2A10):c.912T>G (p.Cys304Trp) ()
🧬 SLC2A10: NM_030777.4(SLC2A10):c.453T>A (p.Tyr151Ter) ()
🧬 SLC2A10: NM_030777.4(SLC2A10):c.35C>T (p.Ala12Val) ()
🧬 SLC2A10: NM_030777.4(SLC2A10):c.1178C>G (p.Ser393Cys) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 506 variantes classificadas pelo ClinVar.

101
101
304
Patogênica (20.0%)
VUS (20.0%)
Benigna (60.1%)
VARIANTES MAIS SIGNIFICATIVAS
SLC2A10: NM_030777.4(SLC2A10):c.68G>A (p.Gly23Asp) [Likely pathogenic]
SLC2A10: NM_030777.4(SLC2A10):c.912T>G (p.Cys304Trp) [Pathogenic]
SLC2A10: NM_030777.4(SLC2A10):c.453T>A (p.Tyr151Ter) [Pathogenic]
SLC2A10: NM_030777.4(SLC2A10):c.4+5G>A [Likely pathogenic]
SLC2A10: NM_030777.4(SLC2A10):c.1001A>G (p.Asn334Ser) [Uncertain significance]

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de tortuosidade arterial

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

Pesquisa e ensaios clínicos

1 ensaios clínicos encontrados, 1 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
82 papers (10 anos)
#1

A giant hiatal hernia with a congenital diaphragmatic hernia in a pediatric patient with arterial tortuosity syndrome: a case report.

Frontiers in pediatrics2026

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.

#2

Thoracic Aortic Aneurysm Following Blunt Trauma in a Patient with a Monoallelic SLC2A10 Variant: A Case Report.

Annals of vascular diseases2026

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.

#3

Arterial tortuosity syndrome.

BMJ case reports2025 Aug 04

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.

#4

Arteriopathies: Too big to be true.

Annals of pediatric cardiology2025

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.

#5

Radiologic Diagnosis of Arterial Tortuosity Syndrome in a Pediatric Patient: A Case Report.

Cureus2025 Dec

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

Ver todas no PubMed

📚 EuropePMC110 artigos no totalmostrando 144

2026

Thoracic Aortic Aneurysm Following Blunt Trauma in a Patient with a Monoallelic SLC2A10 Variant: A Case Report.

Annals of vascular diseases
2025

Arteriopathies: Too big to be true.

Annals of pediatric cardiology
2026

A giant hiatal hernia with a congenital diaphragmatic hernia in a pediatric patient with arterial tortuosity syndrome: a case report.

Frontiers in pediatrics
2025

Radiologic Diagnosis of Arterial Tortuosity Syndrome in a Pediatric Patient: A Case Report.

Cureus
2025

Congenital Diaphragmatic Hernia and Joint Laxity: A Putative Link with Heritable Connective Tissue Disorders.

Genes
2025

Arterial tortuosity syndrome.

BMJ case reports
2025

Arterial 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 A
2025

Arterial Tortuosity Syndrome: A Rare Cause of Pulmonary Hypertension.

Archivos de bronconeumologia
2025

Arterial tortuosity syndrome in a newborn.

Pediatric radiology
2025

Congenital cervical lung herniation in an infant with arterial tortuosity syndrome.

Respiratory medicine case reports
2025

Surgical Repair of the Aorta in a Neonate With Arterial Tortuosity Syndrome.

World journal for pediatric &amp; congenital heart surgery
2025

Vascular architecture-on-chip: engineering complex blood vessels for reproducing physiological and heterogeneous hemodynamics and endothelial function.

Lab on a chip
2025

Arterial Tortuosity Syndrome: Keys to Early Diagnosis and Report of a New Mutation.

CASE (Philadelphia, Pa.)
2025

Cervical arteries tortuosity and its association with dissection: A systematic review and meta-analysis.

Medicine
2025

Understanding the Spectrum of Mild Clinical Outcomes and Novel Findings in Arterial Tortuosity Syndrome Among Qatari Patients: Implications of SLC2A10 Mutation.

Biomedicines
2025

A Rare Case of Dichorionic Twins Concordant for Arterial Tortuosity Syndrome: Case Report and Review of the Literature.

Fetal diagnosis and therapy
2025

Cervical Artery Tortuosity Is Associated With Dissection Occurrence and Late Recurrence: A Nested Case-Control Study.

Stroke
2024

Clinical Significance of Coronary Artery Tortuosity in Chronic Coronary Syndrome and Stable Angina: Insights from Gensini Scores.

Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir
2024

Identification of Genetic Variants Associated with Hereditary Thoracic Aortic Diseases (HTADs) Using Next Generation Sequencing (NGS) Technology and Genotype-Phenotype Correlations.

International journal of molecular sciences
2025

Aortic aneurysm: Correlations with phenotypes associated with connective tissue dysplasia.

Microvascular research
2024

Total 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 surgery
2024

Association between cervicocerebral artery dissection and tortuosity - a review on quantitative and qualitative assessment.

Acta neurochirurgica
2024

[Functional assessment of internal carotid artery tortuosity in patients with multifocal atherosclerosis].

Khirurgiia
2024

[Dynamic functional assessment of internal carotid artery tortuosity in patients with multifocal atherosclerosis].

Khirurgiia
2024

Global intracranial arterial tortuosity is associated with intracranial atherosclerotic burden.

Scientific reports
2024

Arterial Tortuosity Syndrome: A Surprising Cause for Neck Pulsatility.

European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery
2024

Giant aortic aneurysm repair in a child due to arterial tortuosity syndrome.

Cardiology in the young
2024

Arterial Tortuosity Syndrome and Hypermobility of Joints - Case Presentation and a Review of Literature.

Materia socio-medica
2023

Multiple vascular malformations in a newborn.

Journal of neonatal-perinatal medicine
2023

Arterial tortuosity index, a promising imaging marker for early detection of Loeys-Dietz syndrome.

Kardiologia polska
2023

Association between arterial tortuosity and early neurological deterioration in lenticulostriate artery infarction.

Scientific reports
2024

Arterial tortuosity in pediatric Loeys-Dietz syndrome patients.

American journal of medical genetics. Part A
2023

Imaging in a Rare Case of Neonatal Arterial Tortuosity Syndrome.

Global medical genetics
2023

Vertebral Tortuosity Is Associated With Increased Rate of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome.

Journal of the American Heart Association
2023

Arterial Tortuosity Syndrome: Unraveling a Rare Vascular Disorder.

Cureus
2023

Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patients.

European journal of medical genetics
2024

Anomalous origin of the left suprarenal, inferior phrenic arteries and left ovarian artery in a human cadaver.

Anatomical science international
2023

Association of Arterial Tortuosity with Hemodynamic Parameters-A Computational Fluid Dynamics Study.

World neurosurgery
2023

[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 diseases
2023

Arterial tortuosity syndrome presented as nonvisualization of thoracic aorta in preoperative transthoracic echocardiogram: A case report.

Radiology case reports
2023

Unilateral cerebral arterial tortuosity: Associated with aneurysm occurrence, but potentially inversely associated with aneurysm rupture.

European journal of radiology
2023

Rare genetic variation associated with arterial tortuosity syndrome.

JTCVS techniques
2023

Non-hereditary arterial tortuosity syndrome in systemic sclerosis.

The American journal of the medical sciences
2023

Retinal Arterial Tortuosity in Marfan and Loeys-Dietz Syndromes.

Ophthalmology. Retina
2023

Ophthalmic Manifestations of Arterial Tortuosity Syndrome: Case Series of Patient and Carriers.

Cornea
2022

Arterial Tortuosity Syndrome in a Newborn: A Case Report With Literature Review.

Cureus
2022

Aortic tortuosity in Turner syndrome is associated with larger ascending aorta.

The international journal of cardiovascular imaging
2022

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.

American journal of human genetics
2022

Tortuosity of branch retinal artery is more associated with the genesis and progress of diabetic retinopathy.

Frontiers in endocrinology
2023

Artery tortuosity in Marfan syndrome.

QJM : monthly journal of the Association of Physicians
2023

Retinal arterial tortuosity in Ehlers-Danlos syndromes.

Eye (London, England)
2022

Challenging echocardiographic pictures of aortic arch: when heart murmur leads to a rare diagnosis.

Cardiology in the young
2023

Surgical repair of peripheral pulmonary artery stenosis: A 2-decade experience with 145 patients.

The Journal of thoracic and cardiovascular surgery
2022

Delayed 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 Surgery
2022

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

International medical case reports journal
2022

Subarachnoid Hemorrhage from Ruptured Internal Carotid Artery Aneurysm: Association with Arterial Tortuosity.

World neurosurgery
2023

Aortic Arch Variations and Supra-aortic Arterial Tortuosity in Stroke Patients Undergoing Thrombectomy : Retrospective Analysis of 1705 Cases.

Clinical neuroradiology
2022

Anesthetic Management of a Patient With Arterial Tortuosity Syndrome Undergoing Cerebral Revascularization Surgery-A Case Report.

A&amp;A practice
2022

A rare case of arterial tortuosity syndrome in an adult.

Radiology case reports
2022

A tangled picture: arterial tortuosity syndrome.

European heart journal. Cardiovascular Imaging
2022

Intracranial Vascular Tortuosity in an Infant With Dysmorphic Facies.

Pediatric neurology
2021

Neonatal Arterial Tortuosity and Adult Aortic Aneurysm-Is There a Missing Link?-A Case Report.

Frontiers in pediatrics
2022

Arterial Tortuosity and Its Correlation with White Matter Hyperintensities in Acute Ischemic Stroke.

Neural plasticity
2022

Ultrastructure abnormalities of collagen and elastin in Arab patients with arterial tortuosity syndrome.

Journal of cutaneous pathology
2022

Corneal stromal deposits in connective tissue disease, a case series.

American journal of ophthalmology case reports
2022

Neurovascular abnormalities in patients with Loeys-Dietz syndrome type III.

European journal of medical genetics
2022

Increased 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
2022

[Pathological tortuosity of extracranial arteries: a problem long known, but not yet solve].

Angiologiia i sosudistaia khirurgiia = Angiology and vascular surgery
2022

Middle cerebral arterial bifurcation aneurysms are associated with bifurcation angle and high tortuosity.

Journal of neuroradiology = Journal de neuroradiologie
2021

Arterial tortuosity syndrome causing recurrent transient ischemic attacks in young adult: a case report.

BMC neurology
2021

Connective Tissue Disorders and Cardiovascular Complications: The Indomitable Role of Transforming Growth Factor-β Signaling.

Advances in experimental medicine and biology
2021

Arterial tortuosity syndrome: relevance in pediatric surgery. A case report.

Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica
2021

Two fetuses in one family of arterial tortuosity syndrome: prenatal ultrasound diagnosis.

BMC pregnancy and childbirth
2021

Cutting balloon angioplasty on branch pulmonary artery stenosis in pediatric patients.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography &amp; Interventions
2022

A case of distal limb arterial tortuosity and dilation: observations and potential clinical significance.

Folia morphologica
2022

Retinal Vessel Phenotype in Patients with a History of Retinal Vein Occlusion.

Ophthalmic research
2022

Late Outcomes After Pulmonary Arterial Reconstruction in Patients With Arterial Tortuosity Syndrome.

The Annals of thoracic surgery
2021

Does Carotid Artery Tortuosity Play a Role in Stroke?

Canadian Association of Radiologists journal = Journal l'Association canadienne des radiologistes
2021

Increased 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 Surgery
2021

Aortic 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 neurosciences
2020

Dealing with kinked and swirled pulmonary vessels: surgical treatment of arterial tortuosity syndrome: a case report.

Cardiology in the young
2020

Neurovascular manifestations in connective tissue diseases: The case of Marfan Syndrome.

Mechanisms of ageing and development
2020

First antenatally confirmed case of arterial tortuosity syndrome.

Cardiology in the young
2020

Visual Diagnosis: A Case of Stretchy Skin and Vascular Abnormalities.

Pediatrics in review
2020

Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects.

Human molecular genetics
2020

Increased visceral arterial tortuosity in Marfan syndrome.

Orphanet journal of rare diseases
2020

Morphological Analysis of Retinal Microvasculature to Improve Understanding of Retinal Hemorrhage Mechanics in Infants.

Investigative ophthalmology &amp; visual science
2020

Surgical Repair of Peripheral Pulmonary Artery Stenosis in Patients Without Williams or Alagille Syndromes.

Seminars in thoracic and cardiovascular surgery
2020

Arterial tortuosity syndrome: a late and unexpected diagnosis and description of a novel likely pathogenic mutation.

Revista espanola de cardiologia (English ed.)
2019

Genetics of syndromic and nonsyndromic aortopathies.

Current opinion in pediatrics
2021

Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder?

Antioxidants &amp; redox signaling
2019

A Rare Case of Arterial Tortuosity Syndrome.

European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery
2019

Corkscrew 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 cardiology
2019

Association of arterial stiffness with aortic calcification and tortuosity.

Medicine
2020

Comprehensive in silico Study of GLUT10: Prediction of Possible Substrate Binding Sites and Interacting Molecules.

Current pharmaceutical biotechnology
2019

Vascular tortuosity of the internal carotid artery is related to the RNF213 c.14429G > A variant in moyamoya disease.

Scientific reports
2019

Anesthetic management of a pediatric patient with Loeys-Dietz syndrome: A case report.

Paediatric anaesthesia
2020

A Severe Form of Arterial Tortuosity Syndrome Presenting With Significant Airway Obstruction in an Infant.

World journal for pediatric &amp; congenital heart surgery
2019

Arterial Tortuosity Syndrome in a Term Neonate.

The Annals of thoracic surgery
2019

Hybrid Arch Frozen Elephant Trunk Repair of Complex Arch Aneurysm With Severe Arterial Tortuosity.

Innovations (Philadelphia, Pa.)
2019

Progression of arterial toursosity syndrome to multiple aneurysms: Role of defining aortic flow and biomechanics.

Global cardiology science &amp; practice
2019

Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients.

Oxidative medicine and cellular longevity
2019

Tortuosity of the superficial femoral artery and its influence on blood flow patterns and risk of atherosclerosis.

Biomechanics and modeling in mechanobiology
2020

[Arterial tortuosity syndrome in a paediatric patient].

Anales de pediatria
2018

Clinical Variability in Two Macedonian Families with Arterial Tortuosity Syndrome.

Balkan journal of medical genetics : BJMG
2018

Hemodynamic investigation of a patient-specific abdominal aortic aneurysm with iliac artery tortuosity.

Computer methods in biomechanics and biomedical engineering
2018

[Autosomal dominant syndrome of retinal arterial tortuosity: A case report].

Journal francais d'ophtalmologie
2018

Comparative gene array analyses of severe elastic fiber defects in late embryonic and newborn mouse aorta.

Physiological genomics
2018

Pharmacological resources, diagnostic approach and coordination of care in joint hypermobility-related disorders.

Expert review of clinical pharmacology
2018

Obstetric Management of Loeys-Dietz Syndrome.

Obstetrics and gynecology
2018

Multifaced Roles of the αvβ3 Integrin in Ehlers-Danlos and Arterial Tortuosity Syndromes' Dermal Fibroblasts.

International journal of molecular sciences
2018

Arterial tortuosity syndrome: An extremely rare disease presenting as a mimic of pulmonary sling.

Radiology case reports
2018

A Rare Case of Prenatally Diagnosed Arterial Tortuosity.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
2018

Severe neonatal hypertension revealing arterial tortuosity syndrome.

Kidney international
2018

Arterial tortuosity syndrome: 40 new families and literature review.

Genetics in medicine : official journal of the American College of Medical Genetics
2018

Tortuous internal carotid artery in the oropharynx: a rare cause of a mass.

International journal of oral and maxillofacial surgery
2018

GLUT10 maintains the integrity of major arteries through regulation of redox homeostasis and mitochondrial function.

Human molecular genetics
2017

GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts.

International journal of molecular sciences
2020

Ascending Aortic Aneurysm in a Case of Arterial Tortuosity Syndrome: A Rare Tortuous Disorder.

World journal for pediatric &amp; congenital heart surgery
2018

Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series.

Ophthalmic genetics
2017

Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries.

Science advances
2017

Arterial tortuosity in patients with spontaneous cervical artery dissection.

Neuroradiology
2017

Cervical artery tortuosity is associated with intracranial aneurysm.

International journal of stroke : official journal of the International Stroke Society
2017

Quantitative Analysis of Extracranial Arterial Tortuosity in Patients with Sickle Cell Disease.

Journal of neuroimaging : official journal of the American Society of Neuroimaging
2017

The pathobiology of vascular malformations: insights from human and model organism genetics.

The Journal of pathology
2018

Association between carotid artery tortuosity and carotid dissection: a case-control study.

Journal of neurosurgical sciences
2016

Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport.

FEBS letters
2017

Severe Arterial Tortuosity.

World journal for pediatric &amp; congenital heart surgery
2016

Moyamoya disease and artery tortuosity as rare phenotypes in a patient with an elastin mutation.

American journal of medical genetics. Part A
2016

Expert Diagnosis of Plus Disease in Retinopathy of Prematurity From Computer-Based Image Analysis.

JAMA ophthalmology
2016

Arterial Tortuosity: An Imaging Biomarker of Childhood Stroke Pathogenesis?

Stroke
2016

Arterial Tortuosity Syndrome reveals function of dehydroascorbic acid in collagen and elastin synthesis: Implications for skin care.

Medical hypotheses
2016

Retinal Arterial Tortuosity in Moyamoya Disease.

JAMA ophthalmology
2015

Arterial tortuosity in genetic arteriopathies.

Current opinion in cardiology
2015

GLUT10 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
2015

[DIAGNOSIS OF ISCHEMIC HEART DISEASE CAUSED BY TORTUOSITY OF CORONARY ARTERIES].

Likars'ka sprava
2015

Differential 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 genetics
2015

A balloon-expandable sheath facilitates transfemoral TAVR in patients with peripheral vascular disease and tortuosity.

Therapeutic advances in cardiovascular disease
2015

Dieulafoy lesion: CT diagnosis of this lesser-known cause of gastrointestinal bleeding.

Clinical radiology
2015

Clinical utility gene card for: Arterial tortuosity syndrome.

European journal of human genetics : EJHG
2015

Characteristic anatomical conformation of the vertebral artery causing vascular compression against the root exit zone of the facial nerve in patients with hemifacial spasm.

Acta neurochirurgica
2014

An 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 Conference
2014

Assessment 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 Conference
2014

Detection 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 Conference

Associações

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome de tortuosidade arterial

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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.

  1. A giant hiatal hernia with a congenital diaphragmatic hernia in a pediatric patient with arterial tortuosity syndrome: a case report.
    Frontiers in pediatrics· 2026· PMID 41743220mais citado
  2. Thoracic Aortic Aneurysm Following Blunt Trauma in a Patient with a Monoallelic SLC2A10 Variant: A Case Report.
    Annals of vascular diseases· 2026· PMID 41789428mais citado
  3. Arterial tortuosity syndrome.
    BMJ case reports· 2025· PMID 40759497mais citado
  4. Arteriopathies: Too big to be true.
    Annals of pediatric cardiology· 2025· PMID 41743534mais citado
  5. Radiologic Diagnosis of Arterial Tortuosity Syndrome in a Pediatric Patient: A Case Report.
    Cureus· 2025· PMID 41583244mais citado
  6. Congenital Diaphragmatic Hernia and Joint Laxity: A Putative Link with Heritable Connective Tissue Disorders.
    Genes (Basel)· 2025· PMID 41010011recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:3342(Orphanet)
  2. OMIM OMIM:208050(OMIM)
  3. MONDO:0008818(MONDO)
  4. GARD:774(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. 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

Compêndio · Raras BR

Síndrome de tortuosidade arterial

ORPHA:3342 · MONDO:0008818
Prevalência
<1 / 1 000 000
Casos
102 casos conhecidos
Herança
Autosomal recessive
CID-10
Q27.8 · Outras malformações congênitas especificadas do sistema vascular periférico
CID-11
Ensaios
1 ativos
Início
Childhood, Infancy
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1859726
EuropePMC
Wikidata
Papers 10a
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