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Quoted phrase not found in phrase index: "Ehlers-Danlos syndrome, cardiac valvular type"
Page 1
Bone Disease in Patients with Ehlers-Danlos Syndromes.
Basalom S, Rauch F. Basalom S, et al. Curr Osteoporos Rep. 2020 Apr;18(2):95-102. doi: 10.1007/s11914-020-00568-5. Curr Osteoporos Rep. 2020. PMID: 32162201 Review.
PURPOSE OF REVIEW: To summarize the bone findings, mainly bone mass and fracture risk, in Ehlers-Danlos syndromes (EDS). RECENT FINDINGS: Low bone mineral density and fractures seem to be frequent in some of the rare EDS types (kyphoscoliotic, arthrochalasia, spondy …
PURPOSE OF REVIEW: To summarize the bone findings, mainly bone mass and fracture risk, in Ehlers-Danlos syndromes (EDS). RECEN …
Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2.
Guarnieri V, Morlino S, Di Stolfo G, Mastroianno S, Mazza T, Castori M. Guarnieri V, et al. Am J Med Genet A. 2019 May;179(5):846-851. doi: 10.1002/ajmg.a.61100. Epub 2019 Mar 1. Am J Med Genet A. 2019. PMID: 30821104
Cardiac valvular Ehlers-Danlos syndrome (EDS) is a rare EDS subtype, caused by specific recessive variants in the gene encoding pro-alpha2-chain of type I collagen (COL1A2). Cardiac valvular EDS is mainly characterized by ge …
Cardiac valvular Ehlers-Danlos syndrome (EDS) is a rare EDS subtype, caused by specific recessive variant …
Prevalence of cardiovascular manifestations in patients with hypermobile Ehlers-Danlos syndrome at the University of Miami.
Pietri-Toro JM, Gardner OK, Leuchter JD, DiBartolomeo G, Hunter JA, Forghani I. Pietri-Toro JM, et al. Am J Med Genet A. 2023 Jun;191(6):1502-1507. doi: 10.1002/ajmg.a.63168. Epub 2023 Mar 3. Am J Med Genet A. 2023. PMID: 36866504
Cardiovascular system involvements have been frequently reported in hypermobile Ehlers-Danlos Syndrome (hEDS). Mitral valve prolapse (MVP) and aortic root dilatation are included in the 2017 international classification criteria for hEDS. Different studies ha …
Cardiovascular system involvements have been frequently reported in hypermobile Ehlers-Danlos Syndrome (hEDS). Mitral v …
Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.
Ritelli M, Morlino S, Giacopuzzi E, Carini G, Cinquina V, Chiarelli N, Majore S, Colombi M, Castori M. Ritelli M, et al. Am J Med Genet A. 2017 Jan;173(1):169-176. doi: 10.1002/ajmg.a.38004. Epub 2016 Oct 14. Am J Med Genet A. 2017. PMID: 27739212
While gain-of-function mutations cause various bone dysplasias, loss-of-function variants are the most common cause of periventricular nodular heterotopias with variable soft connective tissue involvement, as well as X-linked cardiac valvular dystrophy (XCVD). The t …
While gain-of-function mutations cause various bone dysplasias, loss-of-function variants are the most common cause of periventricular nodul …
Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.
Takeda R, Yamaguchi T, Hayashi S, Sano S, Kawame H, Kanki S, Taketani T, Yoshimura H, Nakamura Y, Kosho T. Takeda R, et al. Am J Med Genet A. 2022 Sep;188(9):2560-2575. doi: 10.1002/ajmg.a.62887. Epub 2022 Jul 13. Am J Med Genet A. 2022. PMID: 35822426 Free PMC article.
Abnormalities in type I procollagen genes (COL1A1 and COL1A2) are responsible for hereditary connective tissue disorders including osteogenesis imperfecta (OI), specific types of Ehlers-Danlos syndrome (EDS), and COL1-related overlapping disorder (C1RO …
Abnormalities in type I procollagen genes (COL1A1 and COL1A2) are responsible for hereditary connective tissue disorders including os …
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?
Melis D, Cappuccio G, Ginocchio VM, Minopoli G, Valli M, Corradi M, Andria G. Melis D, et al. Ital J Pediatr. 2012 Nov 16;38:65. doi: 10.1186/1824-7288-38-65. Ital J Pediatr. 2012. PMID: 23158907 Free PMC article.
Ehlers Danlos syndrome (EDS) athrocalasia type (type VII), is characterized by joint hypermobility, skin hyperextensibility and tissue fragility. No heart involvement has been reported. Two forms have been described: type VII A and …
Ehlers Danlos syndrome (EDS) athrocalasia type (type VII), is characterized by joint hypermobility, skin …
Mitral valve prolapse and conduction defects in Ehlers-Danlos syndrome.
Cabeen WR Jr, Reza MJ, Kovick RB, Stern MS. Cabeen WR Jr, et al. Arch Intern Med. 1977 Sep;137(9):1227-31. Arch Intern Med. 1977. PMID: 901093
A case of type 3 Ehlers-Danlos syndrome with associated mitral valve prolapse, right bundle-branch block, and left anterior fascicular block was studied, including His bundle electrocardiography and echocardiography. ...The possibility also is consider …
A case of type 3 Ehlers-Danlos syndrome with associated mitral valve prolapse, right bundle-branch block, and le …
Cardiovascular characteristics in Marfan syndrome and their relation to the genotype.
De Backer J. De Backer J. Verh K Acad Geneeskd Belg. 2009;71(6):335-71. Verh K Acad Geneeskd Belg. 2009. PMID: 20232788 Review.
In the second part, we studied LV function in MFS patients free of valvular heart disease using a combination of echocardiography (both conventional echocardiography and tissue Doppler imaging) and Magnetic Resonance Imaging. ...Third, patients with an 'atypical' MF …
In the second part, we studied LV function in MFS patients free of valvular heart disease using a combination of echocardiogra …
Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients.
Shimizu K, Okamoto N, Miyake N, Taira K, Sato Y, Matsuda K, Akimaru N, Ohashi H, Wakui K, Fukushima Y, Matsumoto N, Kosho T. Shimizu K, et al. Am J Med Genet A. 2011 Aug;155A(8):1949-58. doi: 10.1002/ajmg.a.34115. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744491 Review.
Loss-of-function mutations in CHST14, dermatan 4-O-sulfotransferase 1 (D4ST1) deficiency, have recently been found to cause adducted thumb-clubfoot syndrome (ATCS; OMIM#601776) and a new type of Ehlers-Danlos syndrome (EDS) coined as EDS Kosho …
Loss-of-function mutations in CHST14, dermatan 4-O-sulfotransferase 1 (D4ST1) deficiency, have recently been found to cause adducted thumb-c …
Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.
Vandersteen AM, Lund AM, Ferguson DJ, Sawle P, Pollitt RC, Holder SE, Wakeling E, Moat N, Pope FM. Vandersteen AM, et al. Am J Med Genet A. 2014 Feb;164A(2):386-91. doi: 10.1002/ajmg.a.36285. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311407
We present four examples of OI type I complicated by valvular heart disease and associated with tissue fragility. ...The combined clinical, surgical, histological, ultra-structural, and molecular genetic data suggest the type I collagen defect as contr …
We present four examples of OI type I complicated by valvular heart disease and associated with tissue fragility. ...Th …