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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

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

See all (3)

Recent clinical studies

Etiology

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

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

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

See all (67)

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

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 type of Ehlers-Danlos syndrome.

Watanabe A, Shimada T
J Nippon Med Sch 2008 Oct;75(5):254-61. doi: 10.1272/jnms.75.254. PMID: 19023163

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 (81)

Therapy

Women With Spontaneous Coronary Artery Dissection Are at Increased Risk of Iatrogenic Coronary Artery Dissection.

Fahey JK, Chew A, Ihdayhid AR, Rashid HN, Zaman S, Nicholls SJ, White AJ
Heart Lung Circ 2021 Jan;30(1):e23-e28. Epub 2020 Sep 18 doi: 10.1016/j.hlc.2020.06.028. PMID: 32952036

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

Aneurysm-osteoarthritis syndrome with visceral and iliac artery aneurysms.

van der Linde D, Verhagen HJ, Moelker A, van de Laar IM, Van Herzeele I, De Backer J, Dietz HC, Roos-Hesselink JW
J Vasc Surg 2013 Jan;57(1):96-102. Epub 2012 Sep 11 doi: 10.1016/j.jvs.2012.06.107. PMID: 22975338 Free PMC Article

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Prognosis

Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts.

Chiarelli N, Cinquina V, Martini P, Bertini V, Zoppi N, Venturini M, Ritelli M, Colombi M
Biochim Biophys Acta Mol Basis Dis 2024 Jan;1870(1):166915. Epub 2023 Oct 10 doi: 10.1016/j.bbadis.2023.166915. PMID: 37827202

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 Ehlers-Danlos Syndrome: Long-Term Observational Study.

Cerebral microhemorrhages: mechanisms, consequences, and prevention.

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

See all (41)

Clinical prediction guides

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

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

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

Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders.

De Paepe A, Malfait F
Br J Haematol 2004 Dec;127(5):491-500. doi: 10.1111/j.1365-2141.2004.05220.x. PMID: 15566352

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 (33)