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206 results

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Page 1
Hypermobile Ehlers-Danlos Syndrome.
Hakim A. Hakim A. 2004 Oct 22 [updated 2024 Feb 22]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2004 Oct 22 [updated 2024 Feb 22]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301456 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Hypermobile Ehlers-Danlos syndrome (hEDS) is characterized by generalized joint hypermobility, joint instability, pain, soft and hyperextensible skin with atrophic scars and easy bruising, dental crowding, abdominal hernias, pelvic organ pr …
CLINICAL CHARACTERISTICS: Hypermobile Ehlers-Danlos syndrome (hEDS) is characterized by generalized joint hypermobility, joint …
Classic Ehlers-Danlos Syndrome.
Malfait F, Symoens S, Syx D. Malfait F, et al. 2007 May 29 [updated 2024 Feb 1]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2007 May 29 [updated 2024 Feb 1]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301422 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Classic Ehlers-Danlos syndrome (cEDS) is a heritable connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility (GJH). ...Mild muscle hypotonia with delayed motor development, …
CLINICAL CHARACTERISTICS: Classic Ehlers-Danlos syndrome (cEDS) is a heritable connective tissue disorder characterized by ski …
Loeys-Dietz Syndrome.
Velchev JD, Van Laer L, Luyckx I, Dietz H, Loeys B. Velchev JD, et al. Adv Exp Med Biol. 2021;1348:251-264. doi: 10.1007/978-3-030-80614-9_11. Adv Exp Med Biol. 2021. PMID: 34807423
Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvement. The most typical clinical triad includes hypertelorism, bifid uvula or cleft palate and aortic aneurysm with tortuosity. Natural history is significant …
Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvement. The most typical c …
Cardiovascular Management of Aortopathy in Children: A Scientific Statement From the American Heart Association.
Morris SA, Flyer JN, Yetman AT, Quezada E, Cappella ES, Dietz HC, Milewicz DM, Ouzounian M, Rigelsky CM, Tierney S, Lacro RV; American Heart Association Council on Lifelong Congenital Heart Disease and Heart Health in the Young (Young Hearts); Council on Cardiovascular and Stroke Nursing; Council on Peripheral Vascular Disease; Council on Cardiopulmonary, Critical Care, Perioperative and Resuscitation; and Council on Cardiovascular Surgery and Anesthesia. Morris SA, et al. Circulation. 2024 Sep 10;150(11):e228-e254. doi: 10.1161/CIR.0000000000001265. Epub 2024 Aug 12. Circulation. 2024. PMID: 39129620 Free article. Review.
Aortopathy encompasses a spectrum of conditions predisposing to dilation, aneurysm, dissection, or rupture of the aorta and other blood vessels. Aortopathy is diagnosed commonly in children, from infancy through adolescence, primarily affecting the thoracic aorta …
Aortopathy encompasses a spectrum of conditions predisposing to dilation, aneurysm, dissection, or rupture of the aorta and other blo …
Differences in Arterial Events in Vascular Ehlers-Danlos, Loeys-Dietz, and Marfan Syndrome.
Calderon-Martinez E, Velasco WV, Guo D, Hostetler EH, Xun Z, Stephens S, Shalhub S, De Backer J, Ouzounian M, LeMaire SA, Milleron O, Hanna N, Arnaud P, Tchitchinadze M, Prakash SK, Lindsay M, Marcadier J, Jeremy R, Morris SA, Yetman AT, Boileau C, Braverman AC, Jondeau G, Milewicz DM. Calderon-Martinez E, et al. J Am Coll Cardiol. 2025 Jun 24;85(24):2355-2367. doi: 10.1016/j.jacc.2025.04.023. J Am Coll Cardiol. 2025. PMID: 40533124 Free article.
BACKGROUND: Heritable thoracic aortic disease is due to altered genes that confer a highly penetrant risk for thoracic aortic aneurysm and dissection, and a subset of these genes also cause aneurysms and dissections of peripheral arteries beyond the …
BACKGROUND: Heritable thoracic aortic disease is due to altered genes that confer a highly penetrant risk for thoracic …
PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome.
Rohrbach M, Giunta C. Rohrbach M, et al. 2000 Feb 2 [updated 2024 Jun 13]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2000 Feb 2 [updated 2024 Jun 13]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301635 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS) is characterized by hypotonia, generalized joint hypermobility, early-onset kyphoscoliosis, skin fragility, and ocular abnormality. ...Pregnancy management: Affected pregnant …
CLINICAL CHARACTERISTICS: PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS) is characterized by hypotonia, gene …
Aortopathy in pregnancy.
Smok DA. Smok DA. Semin Perinatol. 2014 Aug;38(5):295-303. doi: 10.1053/j.semperi.2014.04.019. Semin Perinatol. 2014. PMID: 25037520 Review.
Up to half of all aortic dissections and ruptures in women younger than 40 years are associated with pregnancy. ...Pregnancy places predisposed women at an increased risk of dissection due to physiological and hormonal changes that occur, particularly those with connective …
Up to half of all aortic dissections and ruptures in women younger than 40 years are associated with pregnancy. ...Pregnancy places p …
Prevalence of aortic root dilation in the Ehlers-Danlos syndrome.
Wenstrup RJ, Meyer RA, Lyle JS, Hoechstetter L, Rose PS, Levy HP, Francomano CA. Wenstrup RJ, et al. Genet Med. 2002 May-Jun;4(3):112-7. doi: 10.1097/00125817-200205000-00003. Genet Med. 2002. PMID: 12180144 Free article.
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 patie …
PURPOSE: To determine the prevalence of proximal aortic abnormalities in patients with Ehlers-Danlos syndrome (EDS). ME …
Natural history of aortic root dilation through young adulthood in a hypermobile Ehlers-Danlos syndrome cohort.
Ritter A, Atzinger C, Hays B, James J, Shikany A, Neilson D, Martin L, Weaver KN. Ritter A, et al. Am J Med Genet A. 2017 Jun;173(6):1467-1472. doi: 10.1002/ajmg.a.38243. Epub 2017 Apr 24. Am J Med Genet A. 2017. PMID: 28436618
The natural history of aortic root dilation (AoD), a potential complication of EDS, has not been well characterized in this population. ...Medical records were reviewed and each participant's height, weight, and aortic dimensions from up to four echocardiogra …
The natural history of aortic root dilation (AoD), a potential complication of EDS, has not been well characterized in this po …
Ehlers-Danlos syndromes and Marfan syndrome.
Callewaert B, Malfait F, Loeys B, De Paepe A. Callewaert B, et al. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):165-89. doi: 10.1016/j.berh.2007.12.005. Best Pract Res Clin Rheumatol. 2008. PMID: 18328988 Review.
Ehlers-Danlos syndromes (EDS) and Marfan syndrome (MFS) are multisystemic disorders that primarily affect the soft connective tissues. ...MFS is an autosomal-dominant disorder that affects the cardiovascular, ocular and skeletal system with aortic root …
Ehlers-Danlos syndromes (EDS) and Marfan syndrome (MFS) are multisystemic disorders that primarily affect the soft connective …
206 results