Prevalence of aortic root dilation in the Ehlers-Danlos syndrome
- PMID: 12180144
- DOI: 10.1097/00125817-200205000-00003
Prevalence of aortic root dilation in the Ehlers-Danlos syndrome
Abstract
Purpose: To determine the prevalence of proximal aortic abnormalities in patients with Ehlers-Danlos syndrome (EDS).
Methods: In a prospective cohort study, aortic measurements by two-dimensional echocardiography were performed on consecutive EDS patients.
Results: Twenty-eight percent (20 of 71) had aortic root dilation (ARD) (> +2 SD above population based norms). Fourteen of 42 individuals with the classical form of EDS (types I/II) and 6 of 29 individuals with the hypermobile form (type III) had ARD, with no gender differences.
Conclusion: ARD is a common finding in EDS. Longitudinal studies are indicated to determine progression of ARD and its clinical significance.
Similar articles
-
Mitral valve prolapse and aortic root dilation in adults with hypermobile Ehlers-Danlos syndrome and related disorders.Am J Med Genet A. 2018 Sep;176(9):1838-1844. doi: 10.1002/ajmg.a.40364. Epub 2018 Jul 31. Am J Med Genet A. 2018. PMID: 30063091
-
Aortic root dilatation in Ehlers-Danlos syndrome types I, II and III. A report of five cases.Clin Genet. 1998 Jun;53(6):460-5. doi: 10.1111/j.1399-0004.1998.tb02595.x. Clin Genet. 1998. PMID: 9712535
-
Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers-Danlos syndrome.J Pediatr. 2011 May;158(5):826-830.e1. doi: 10.1016/j.jpeds.2010.11.023. Epub 2010 Dec 28. J Pediatr. 2011. PMID: 21193204
-
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 Mar;175(1):48-69. doi: 10.1002/ajmg.c.31538. Epub 2017 Feb 1. Am J Med Genet C Semin Med Genet. 2017. PMID: 28145611 Review.
-
Bone Disease in Patients with Ehlers-Danlos Syndromes.Curr Osteoporos Rep. 2020 Apr;18(2):95-102. doi: 10.1007/s11914-020-00568-5. Curr Osteoporos Rep. 2020. PMID: 32162201 Review.
Cited by
-
Open Versus Endovascular or Hybrid Thoracic Aortic Aneurysm Repair.Curr Atheroscler Rep. 2016 Oct;18(10):60. doi: 10.1007/s11883-016-0612-3. Curr Atheroscler Rep. 2016. PMID: 27663901 Review.
-
Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems.J Med Genet. 2006 Jul;43(7):e36. doi: 10.1136/jmg.2005.038224. J Med Genet. 2006. PMID: 16816023 Free PMC article.
-
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.Eur J Hum Genet. 2010 Dec;18(12):1315-21. doi: 10.1038/ejhg.2010.105. Epub 2010 Jul 21. Eur J Hum Genet. 2010. PMID: 20648054 Free PMC article.
-
Tenascin-X, collagen, and Ehlers-Danlos syndrome: tenascin-X gene defects can protect against adverse cardiovascular events.Med Hypotheses. 2013 Sep;81(3):443-7. doi: 10.1016/j.mehy.2013.06.005. Epub 2013 Jul 3. Med Hypotheses. 2013. PMID: 23830591 Free PMC article.
-
Ehlers-danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations.ISRN Dermatol. 2012;2012:751768. doi: 10.5402/2012/751768. Epub 2012 Nov 22. ISRN Dermatol. 2012. PMID: 23227356 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical
Molecular Biology Databases