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Arterial tortuosity-bone fragility syndrome(ATBFS)

MedGen UID:: 1855920
•Concept ID:: C5935641
•: Disease or Syndrome

Synonyms:	ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME; ATBFS

Gene (location): Gene(s) directly associated with this condition or phenotype.	EMILIN1 (2p23.3)

Monarch Initiative:	MONDO:0971179
OMIM®:	620908

Definition

Arterial tortuosity-bone fragility syndrome (ATBFS) is characterized by congenital severe tortuosity of the aorta and its side branches, including the carotid, pulmonary, and subclavian arteries. Tortuosity of the retinal arteries is present in some patients. Coarctation of the aorta and arterial stenoses, as well as aneurysmal dilation, have been observed. In addition, affected individuals experience prenatal and neonatal fractures; fracture risk appears to diminish with age (Adamo et al., 2022). [from OMIM]

Professional guidelines

PubMed

Diagnosis and treatment of the Ehlers-Danlos syndromes in China: synopsis of the first guidelines.

Xu K, Li G, Wu Z, Zhang TJ, Wu N; Chinese Multi-Disciplinary Working Group on the Ehlers-Danlos Syndromes
Orphanet J Rare Dis 2024 May 13;19(1):194. doi: 10.1186/s13023-024-03121-0. PMID: 38741208 Free PMC Article

Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology.

Ritelli M, Rovati C, Venturini M, Chiarelli N, Cinquina V, Castori M, Colombi M
Clin Genet 2020 Feb;97(2):287-295. Epub 2019 Nov 3 doi: 10.1111/cge.13653. PMID: 31600821

New options for the ventilatory management of acute lung injury.

Marini JJ
New Horiz 1993 Nov;1(4):489-503. PMID: 8087570

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Recent clinical studies

Etiology

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

Baban A, Castori M
Expert Rev Clin Pharmacol 2018 Jul;11(7):689-703. Epub 2018 Jul 19 doi: 10.1080/17512433.2018.1497973. PMID: 29979900

Vascular aspects of the Ehlers-Danlos Syndromes.

Malfait F
Matrix Biol 2018 Oct;71-72:380-395. Epub 2018 Apr 27 doi: 10.1016/j.matbio.2018.04.013. PMID: 29709596

Cerebral microhemorrhages: mechanisms, consequences, and prevention.

Ungvari Z, Tarantini S, Kirkpatrick AC, Csiszar A, Prodan CI
Am J Physiol Heart Circ Physiol 2017 Jun 1;312(6):H1128-H1143. Epub 2017 Mar 17 doi: 10.1152/ajpheart.00780.2016. PMID: 28314762 Free PMC Article

Ehlers-Danlos syndrome - a commonly misunderstood group of conditions.

Sobey G
Clin Med (Lond) 2014 Aug;14(4):432-6. doi: 10.7861/clinmedicine.14-4-432. PMID: 25099849 Free PMC Article

Varying presentations in patients with symptomatic type IV vascular Ehlers-Danlos syndrome.

Dwivedi AJ, Hamdallah O, Morris ME, Yancey AE, Ross CB
Vasc Endovascular Surg 2012 Feb;46(2):163-6. Epub 2012 Feb 5 doi: 10.1177/1538574411433298. PMID: 22308214

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Diagnosis

COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder.

Venable E, Knight DRT, Thoreson EK, Baudhuin LM
Am J Med Genet C Semin Med Genet 2023 Jun;193(2):147-159. Epub 2023 Mar 9 doi: 10.1002/ajmg.c.32038. PMID: 36896471

Pathophysiology of Mild Hypercortisolism: From the Bench to the Bedside.

Favero V, Cremaschi A, Parazzoli C, Falchetti A, Gaudio A, Gennari L, Scillitani A, Vescini F, Morelli V, Aresta C, Chiodini I
Int J Mol Sci 2022 Jan 8;23(2) doi: 10.3390/ijms23020673. PMID: 35054858 Free PMC Article

Systemic Multiple Aneurysms Caused by Vascular Ehlers-Danlos Syndrome.

Gui X, Li F, Wu L, Zheng Y
Vasc Endovascular Surg 2016 Jul;50(5):354-8. Epub 2016 May 12 doi: 10.1177/1538574416647501. PMID: 27206743

Ehlers-Danlos syndrome - a commonly misunderstood group of conditions.

Sobey G
Clin Med (Lond) 2014 Aug;14(4):432-6. doi: 10.7861/clinmedicine.14-4-432. PMID: 25099849 Free PMC Article

Varying presentations in patients with symptomatic type IV vascular Ehlers-Danlos syndrome.

Dwivedi AJ, Hamdallah O, Morris ME, Yancey AE, Ross CB
Vasc Endovascular Surg 2012 Feb;46(2):163-6. Epub 2012 Feb 5 doi: 10.1177/1538574411433298. PMID: 22308214

See all (82)

Therapy

Arterial Elasticity in Ehlers-Danlos Syndromes.

Miller AJ, Schubart JR, Sheehan T, Bascom R, Francomano CA
Genes (Basel) 2020 Jan 4;11(1) doi: 10.3390/genes11010055. PMID: 31947929 Free PMC Article

Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study.

Frank M, Adham S, Seigle S, Legrand A, Mirault T, Henneton P, Albuisson J, Denarié N, Mazzella JM, Mousseaux E, Messas E, Boutouyrie P, Jeunemaitre X
J Am Coll Cardiol 2019 Apr 23;73(15):1948-1957. doi: 10.1016/j.jacc.2019.01.058. PMID: 30999998

Arterial complications of vascular Ehlers-Danlos syndrome.

Eagleton MJ
J Vasc Surg 2016 Dec;64(6):1869-1880. Epub 2016 Sep 26 doi: 10.1016/j.jvs.2016.06.120. PMID: 27687326

Rumpel-Leede Phenomenon in a Patient with Laboratory Markers Positive for Sjögren Disease.

Ramme AJ, Gales J, Stevens N, Verma V, Egol K
A A Case Rep 2016 Jun 1;6(11):352-4. doi: 10.1213/XAA.0000000000000309. PMID: 27075423

Hemoglobin-driven pathophysiology is an in vivo consequence of the red blood cell storage lesion that can be attenuated in guinea pigs by haptoglobin therapy.

Baek JH, D'Agnillo F, Vallelian F, Pereira CP, Williams MC, Jia Y, Schaer DJ, Buehler PW
J Clin Invest 2012 Apr;122(4):1444-58. Epub 2012 Mar 26 doi: 10.1172/JCI59770. PMID: 22446185 Free PMC Article

See all (20)

Prognosis

Fulminant myocardial bleeding: another clinical course of vascular Ehlers-Danlos Syndrome.

Tokue M, Hara H, Kurosawa K, Nakamura M
BMJ Case Rep 2017 Sep 23;2017 doi: 10.1136/bcr-2017-220786. PMID: 28942401 Free PMC Article

Cerebral microhemorrhages: mechanisms, consequences, and prevention.

Rumpel-Leede Phenomenon in a Patient with Laboratory Markers Positive for Sjögren Disease.

Ramme AJ, Gales J, Stevens N, Verma V, Egol K
A A Case Rep 2016 Jun 1;6(11):352-4. doi: 10.1213/XAA.0000000000000309. PMID: 27075423

Vascular type Ehlers-Danlos Syndrome with fatal spontaneous rupture of a right common iliac artery dissection: case report and review of literature.

Abayazeed A, Hayman E, Moghadamfalahi M, Cain D
J Radiol Case Rep 2014 Feb;8(2):63-9. Epub 2014 Feb 1 doi: 10.3941/jrcr.v8i2.1568. PMID: 24967021 Free PMC Article

Varying presentations in patients with symptomatic type IV vascular Ehlers-Danlos syndrome.

Dwivedi AJ, Hamdallah O, Morris ME, Yancey AE, Ross CB
Vasc Endovascular Surg 2012 Feb;46(2):163-6. Epub 2012 Feb 5 doi: 10.1177/1538574411433298. PMID: 22308214

See all (42)

Clinical prediction guides

Ankle Skin Defects with Vascular Ehlers-Danlos Syndromes Treated by Posterior Tibial Artery Perforator Flap: A Case Report.

Hasegawa H, Kawamura K, Kawai A, Miyamoto T, Nakayama S, Minami N, Okada H, Tanaka Y
JBJS Case Connect 2023 Oct 1;13(4) Epub 2023 Oct 19 doi: 10.2106/JBJS.CC.23.00336. PMID: 37856617

COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder.

Venable E, Knight DRT, Thoreson EK, Baudhuin LM
Am J Med Genet C Semin Med Genet 2023 Jun;193(2):147-159. Epub 2023 Mar 9 doi: 10.1002/ajmg.c.32038. PMID: 36896471

Bruck Syndrome: Beyond the Obvious.

Tran CT, Smet ME, Forsey J, Zankl A, Nayyar R
Fetal Diagn Ther 2022;49(11-12):479-485. Epub 2022 Dec 7 doi: 10.1159/000527594. PMID: 36476632

Vascular aspects of the Ehlers-Danlos Syndromes.

Malfait F
Matrix Biol 2018 Oct;71-72:380-395. Epub 2018 Apr 27 doi: 10.1016/j.matbio.2018.04.013. PMID: 29709596

Vascular Ehlers-Danlos syndrome.

Germain DP, Herrera-Guzman Y
Ann Genet 2004 Jan-Mar;47(1):1-9. doi: 10.1016/j.anngen.2003.07.002. PMID: 15127738

See all (34)