Cardiovascular manifestations of hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders

1. Tinkle, B, Castori, M, Berglund, B, et al. Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos Syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history. Am J Med Genet C Semin Med Genet 2017; 175: 48–69.
Google Scholar | Crossref | Medline2. Malfait, F, Francomano, C, Byers, P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 2017; 175: 8–26.
Google Scholar | Crossref | Medline3. Eagleton, MJ . Arterial complications of vascular Ehlers-Danlos syndrome. J Vasc Surg 2016; 64: 1869–1880.
Google Scholar | Crossref | Medline4. D’hondt, S, Van Damme, T, Malfait, F. Vascular phenotypes in nonvascular subtypes of the Ehlers-danlos syndrome: A systematic review. Genet Med 2017; 20: 562–573.
Google Scholar | Crossref | Medline5. Chu, LC, Johnson, PT, Dietz, HC, et al. Vascular complications of Ehlers-Danlos syndrome: CT findings. Am J Roentgenol 2012; 198: 482–487.
Google Scholar | Crossref | Medline6. Wenstrup, RJ, Meyer, RA, Lyle, JS, et al. Prevalence of aortic root dilation in the Ehlers-Danlos syndrome. Genet Med 2002; 4: 112–117.
Google Scholar | Crossref | Medline | ISI7. Atzinger, CL, Meyer, RA, Khoury, PR, et al. Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers-Danlos syndrome. J Pediatr 2011; 158: 826–830.e1.
Google Scholar | Crossref | Medline8. Asher, SB, Chen, R, Kallish, S. Mitral valve prolapse and aortic root dilation in adults with hypermobile Ehlers–Danlos syndrome and related disorders. Am J Med Genet A 2018; 176: 1838–1844.
Google Scholar | Crossref | Medline9. Meester, JA, Verstraeten, A, Schepers, D, et al. Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. Ann Cardiothorac Surg 2017; 6: 582–594.
Google Scholar | Crossref | Medline10. Rauser-Foltz, KK, Starr, LJ, Yetman, AT. Utilization of echocardiography in Ehlers-Danlos syndrome. Congenit Heart Dis 2019; 14: 864–867.
Google Scholar | Crossref | Medline11. Paige, SL, Lechich, KM, Tierney, ES, Collins, RT. Cardiac involvement in classical or hypermobile Ehlers–Danlos syndrome is uncommon. Genet Med 2020; 22: 1583–1588.
Google Scholar | Crossref | Medline12. Ritter, A, Atzinger, C, Hays, B, et al. Natural history of aortic root dilation through young adulthood in a hypermobile Ehlers–Danlos syndrome cohort. Am J Med Genet A 2017; 173: 1467–1472.
Google Scholar | Crossref | Medline13. Debette, S, Goeggel Simonetti, B, Schilling, S, et al. Familial occurrence and heritable connective tissue disorders in cervical artery dissection. Neurology 2014; 83: 2023–2031.
Google Scholar | Crossref | Medline | ISI14. Hermanns-Le, T, Manicourt, D, E. Pierard, G. Familial expression of spontaneous cervical artery dissections and Ehlers-Danlos syndrome hypermobile type. J Skin Stem Cell 2014; 1: e27023.
Google Scholar | Crossref15. Castori, M, Tinkle, B, Levy, H, et al. A framework for the classification of joint hypermobility and related conditions. Am J Med Genet C 2017; 175: 148–157.
Google Scholar | Crossref | Medline16. Saura, D, Dulgheru, R, Caballero, L, et al. Two-dimensional transthoracic echocardiographic normal reference ranges for proximal aorta dimensions: Results from the EACVI norre study. Eur Heart JCardiovasc Imaging 2016; 18: 167–179.
Google Scholar | Crossref | Medline17. Zweers, MC, Bristow, J, Steijlen, PM, et al. Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome. Am J Hum Genet 2003; 73: 214–217.
Google Scholar | Crossref | Medline | ISI18. Gensemer, C, Burks, R, Kautz, S, et al. Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes. Dev Dyn 2021; 250: 318–344.
Google Scholar | Crossref | Medline19. Sattur, S, Bates, S, Movahed, MR. Prevalence of mitral valve prolapse and associated valvular regurgitations in healthy teenagers undergoing screening echocardiography. Exp Clin Cardiol 2010; 15: e13–e15.
Google Scholar | Medline20. Malhotra, A, Pace, A, Ruiz Maya, T, et al. Headaches in hypermobility syndromes: A pain in the neck? Am J Med Genet A 2020; 182: 2902–2908.
Google Scholar | Crossref | Medline21. Hiratzka, LF, Bakris, GL, Beckman, JA, et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with thoracic aortic disease. A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. J Am Coll Cardiol 2010; 55: e27–e129.
Google Scholar | Crossref | Medline | ISI22. Schievink, WI, Mokri, B, Whisnant, JP. Internal carotid artery dissection in a community. Rochester, Minnesota, 1987–1992. Stroke 1993; 24: 1678–1680.
Google Scholar | Crossref | Medline | ISI23. Béjot, Y, Daubail, B, Debette, S, et al. Incidence and outcome of cerebrovascular events related to cervical artery dissection: The Dijon Stroke Registry. Int J Stroke 2014; 9: 879–882.
Google Scholar | SAGE Journals | ISI24. Hayes, SN, Kim, ESH, Saw, J, et al. Spontaneous coronary artery dissection: Current state of the science: A scientific statement from the American Heart Association. Circulation 2018; 137: e523–e557.
Google Scholar | Crossref | Medline25. O’Connor, S, Kim, ESH, Brinza, E, et al. Systemic connective tissue features in women with fibromuscular dysplasia. Vasc Med 2015; 20: 454–462.
Google Scholar | SAGE Journals | ISI

留言 (0)

沒有登入
gif