Research & Literature

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.

Zoppi N, Chiarelli N, Cinquina V, et al.

Human molecular genetics 2015; (24(23)):6769-87 doi:10.1093/hmg/ddv382.

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

Németh CE, Marcolongo P, Gamberucci A, et al.

FEBS letters 2016; (590(11)):1630-40 doi:10.1002/1873-3468.12204.

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

Hardin JS, Zarate YA, Callewaert B, et al.

Ophthalmic genetics 2018; (39(1)):29-34 doi:10.1080/13816810.2017.1335332.

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

Syu YW, Lai HW, Jiang CL, et al.

Human molecular genetics 2018; (27(2)):307-321 doi:10.1093/hmg/ddx401.

Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A, Albuisson J, Boel A, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2018; (20(10)):1236-1245 doi:10.1038/gim.2017.253.

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

Dodge-Khatami J, Simpson SA, Dodge-Khatami A

World journal for pediatric & congenital heart surgery 2020; (11(2)):238-240 doi:10.1177/2150135119829009.

Treatment of Peripheral Pulmonary Artery Stenosis.

Kim CW, Aronow WS, Dutta T, et al.

Cardiology in review 2021; (29(3)):115-119 doi:10.1097/CRD.0000000000000300.

First antenatally confirmed case of arterial tortuosity syndrome.

Saravu Vijayashankar S, Culham JAG, Moodley S

Cardiology in the young 2020; (30(11)):1738-1740 doi:10.1017/S1047951120002644.

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

Al-Khaldi A, Momenah T, Alsahari A, et al.

The Annals of thoracic surgery 2022; (113(5)):1569-1574 doi:10.1016/j.athoracsur.2021.03.063.

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

Cobb H, Spray B, Daily J, et al.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions 2021; (98(3)):526-532 doi:10.1002/ccd.29803.

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

Liang M, Wen H, Li S

BMC pregnancy and childbirth 2021; (21(1)):548 doi:10.1186/s12884-021-03960-w.

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

Pérez Gaspar M, Núñez García B, Álvarez García N, et al.

Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica 2021; (34(4)):223-227.

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

Cotti Piccinelli S, Premi E, Bonacina S, et al.

BMC neurology 2021; (21(1)):464 doi:10.1186/s12883-021-02458-4.

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

Ponsetto MK, Elhusseiny AM, Kwan J, Saeed HN

American journal of ophthalmology case reports 2022; (25()):101264 doi:10.1016/j.ajoc.2022.101264.

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

Faiyaz-Ul-Haque M, Mubarak M, AbdulWahab A, et al.

Journal of cutaneous pathology 2022; (49(7)):618-622 doi:10.1111/cup.14228.

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

Ajayan N, Hrishi AP, Kumar A, Sethuraman M

A&A practice 2022; (16(6)):e01593 doi:10.1213/XAA.0000000000001593.

Unusual presentation of Loeys-Dietz syndrome: A case report of clinical findings and treatment challenges.

Azrad-Daniel S, Cupa-Galvan C, Farca-Soffer S, et al.

World journal of clinical cases 2022; (10(33)):12247-12256 doi:10.12998/wjcc.v10.i33.12247.

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

Al-Blushi S, Bantan NAA, Al-Abdullatif S, Taher MM

Cureus 2022; (14(12)):e32899 doi:10.7759/cureus.32899.

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

Alharbi SS, Algorinees RM, Alshehri MA

Cornea 2023; (42(4)):476-481 doi:10.1097/ICO.0000000000003226.

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

Esmel-Vilomara R, Valenzuela I, Riaza L, et al.

European journal of medical genetics 2023; (66(9)):104823 doi:10.1016/j.ejmg.2023.104823.

Arterial Tortuosity Syndrome: Unraveling a Rare Vascular Disorder.

Ekhator C, Devi M, Barker C, et al.

Cureus 2023; (15(9)):e44906 doi:10.7759/cureus.44906.

Imaging in a Rare Case of Neonatal Arterial Tortuosity Syndrome.

Inserra MC, Di Mari A, Passaniti G, et al.

Global medical genetics 2023; (10(4)):271-277 doi:10.1055/s-0043-1775980.

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

Budrys D, Tarutis V, Jonas K

Cardiology in the young 2024; (34(5)):1156-1158 doi:10.1017/S1047951124000544.

Total pulmonary arterial reconstruction in a patient with arterial tortuosity syndrome affecting the pulmonary artery: a case report and review of the literature.

Alshair FM, Alsulami AS, Shihata MS, et al.

Journal of cardiothoracic surgery 2024; (19(1)):432 doi:10.1186/s13019-024-02905-6.

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

Butnariu LI, Russu G, Luca AC, et al.

International journal of molecular sciences 2024; (25(20)) doi:10.3390/ijms252011173.

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

Ponziani I, Checcucci C, Masini G, Pasquini L

Fetal diagnosis and therapy 2025; (52(4)):371-376 doi:10.1159/000543596.

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

Rahmath MRK, Ibrahim H, Faiyaz-Ul-Haque M, et al.

Biomedicines 2025; (13(1)) doi:10.3390/biomedicines13010159.

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

Al-Naimi A, Hamad SG, Zarroug AE

Respiratory medicine case reports 2025; (54()):102193 doi:10.1016/j.rmcr.2025.102193.

Arterial Tortuosity Syndrome: A Longitudinal Assessment of Cardiovascular Features and Interventions From the Collaborative for Longitudinal Aortic Research in the Young (CLARITY).

Salamat B, Stephens SB, Britt JJ, et al.

American journal of medical genetics. Part A 2025; (197(11)):e64159 doi:10.1002/ajmg.a.64159.

Arterial tortuosity syndrome.

Nanayakkara DNP, Hartley R, Wijesinghe HE, Ganeshan A

BMJ case reports 2025; (18(8)) doi:10.1136/bcr-2025-266518.

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

Salah Alkooheji A, Nicola Kalis N, Koç G, et al.

Cureus 2025; (17(12)):e99989 doi:10.7759/cureus.99989.

Navigating Mechanical Support in Cardiogenic Shock With Arterial Hypoplasia: Lessons From Arterial Tortuosity Syndrome.

Lara-García A, Caro-Codón J, Canales L, et al.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions 2026; (108(2)):505-510 doi:10.1002/ccd.70677.

Case series: Arterial tortuosity syndrome confirmed by homozygous SLC2A10 variants.

AlBathi A, AlHariqi BA, Rashid T, et al.

Radiology case reports 2026; (21(8)):3504-3510 doi:10.1016/j.radcr.2026.05.005.

Arterial tortuosity syndrome presenting as severe precapillary pulmonary hypertension in adulthood.

Baltodano Dangla CR, Romero Ríos CK, Urbina Maliaños CJ, et al.

International journal of cardiology. Congenital heart disease 2026; (25()):100683 doi:10.1016/j.ijcchd.2026.100683.

Arterial tortuosity syndrome with coronary artery involvement in a middle-aged female: A case report.

Shrestha P, Shah A, Gc S, et al.

Radiology case reports 2026; (21(12)):6479-6485 doi:10.1016/j.radcr.2026.09.029.