Existence of malfunctioning proα2(I) collagen genes in a patient with a proα2(I)‐chain‐defective variant of Ehlers‐Danlos syndrome

Hata, Ryu‐Ichiro; Kurata, Shigeaki; Shinkai, Hiroshi

doi:10.1111/j.1432-1033.1988.tb14087.x

Cited by 65 publications

(45 citation statements)

References 39 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Analysis of collagen synthesis using dermal fibroblasts was performed as previously described [10]. The production of normal type III procollagen was remarkably decreased (fig.…”

Section: Case Reportmentioning

confidence: 99%

Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene

et al. 2001

View full text Add to dashboard Cite

Ehlers-Danlos syndrome type IV (EDS IV) is caused by mutation within the COL3A1 gene, resulting in the disorder of type III procollagen. The diagnosis is confirmed by demonstrating the synthesis of abnormal type III procollagen molecules from cultured dermal fibroblasts or by identifying the mutation in the COL3A1 gene.The authors report a case of EDS IV caused by a novel point mutation in the COL3A1 gene in a 16-yr-old female. Recurrent haemoptysis and cavitary formation of the lung were evidence of pulmonary involvement. However, extrathoracic manifestations of EDS IV were mostly absent.To the best of the authors9 knowledge, all previously reported Ehlers-Danlos syndrome IV patients with respiratory disease had the characteristic findings or histories of Ehlers-Danlos syndrome IV. In the present case, connective tissue friability was suspected due to tissue laceration observed in the biopsied lung specimen, and the diagnosis was made beginning from this pivotal finding.

show abstract

“…Analysis of collagen synthesis using dermal fibroblasts was performed as previously described [10]. The production of normal type III procollagen was remarkably decreased (fig.…”

Section: Case Reportmentioning

confidence: 99%

Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene

et al. 2001

View full text Add to dashboard Cite

show abstract

“…1,3,[5][6][7][8][9][10][11][12] Pepin et al 13 recently reported the prevalence of cardiovascular complications in a large cohort of patients with vascular EDS; these primarily involve rupture or dissection of medium-sized arteries and the descending aorta. The prevalence of cardiovascular complications in the classical and hypermobile forms are unknown.…”

Section: Abstract: Ehlers-danlos Echocardiogram Aorta Aortic Dilamentioning

confidence: 99%

Prevalence of aortic root dilation in the Ehlers-Danlos syndrome

Wenstrup

Meyer

Lyle

et al. 2002

Genetics in Medicine

125

View full text Add to dashboard Cite

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) (Ͼ ϩ2 SD above population based norms). Key Words: Ehlers-Danlos, echocardiogram, aorta, aortic dilationThe Ehlers-Danlos syndromes (EDS) are a genetically, biochemically, and clinically diverse group of heritable connective tissue disorders having joint laxity and dermal features in common. 1-3 Prior classifications of EDS have included up to 11 disorders. Recently a simplified classification came into use that takes into account increasing clinical experience and advances in our understanding of the molecular pathogenesis of these disorders. Table 1 provides the new Villefranche classification and its relationship to the most recent prior classification in 1988. 2,4 Of these, the classical (EDS types I, II), hypermobile (EDS type III), and vascular (EDS type IV) types are by far the most common.A variety of cardiovascular complications have been associated with EDS, including mitral valve prolapse, rupture of medium-sized arteries, varicose veins, easy bruising, dilation and/or rupture of the aortic sinus and rupture of the aorta. 1,3,[5][6][7][8][9][10][11][12] Pepin et al. 13 recently reported the prevalence of cardiovascular complications in a large cohort of patients with vascular EDS; these primarily involve rupture or dissection of medium-sized arteries and the descending aorta. The prevalence of cardiovascular complications in the classical and hypermobile forms are unknown. We began to perform baseline echocardiographic evaluations on all EDS patients seen in our clinics after having identified a few cases of EDS with aortic root dilation, some of whom had complications. 12 The data indicate that the prevalence of aortic root dilation in these two forms of EDS is higher than previously suspected and that longitudinal follow-up of a large cohort of EDS patients will be necessary to determine whether or to what extent these patients are at risk for serious complications such as aortic rupture, valvular insufficiency, or dissection.

show abstract

“…Our patient had a recessively inherited form of EDS with an increased risk of cardiac valvular dysfunction. This results in failure to synthesize proα2(I) chains of type I procollagen [9] . Aortic regurgitation occurs by either proximal aortic dilatation or laxity and redundancy of the aortic leaflets and mitral valve regurgitation secondary to mitral valve prolapse.…”

Section: Discussionmentioning

confidence: 99%

The first INSPIRIS RESILIA Aortic ValveTM replacement (Edwards Lifesciences) in endocarditis

Singh¹,

Beattie²,

Reid³

et al. 2018

View full text Add to dashboard Cite

There is an increasing number of patients who have surgery during the active phase of infective endocarditis. Despite the decreasing in-hospital mortality and increasing early intervention rate, optimal timing for surgery remains a difficult decision. For patients with mental illnesses, the choice of valve is another factor to consider as non-adherence may lead to serious adverse events Antipsychotic medications may also alter the metabolism of vitamin K antagonists increasing the risk of stroke or major haemorrhage. We report a case of a 19-year-old man with a history of Ehlers-Danlos syndrome and aortic regurgitation, who required management of aortic valve bacterial endocarditis. This is the first report describing the use of the new RESILIA INSPIRIS valve which has increased durability and does not require anticoagulation.

show abstract

Existence of malfunctioning proα2(I) collagen genes in a patient with a proα2(I)‐chain‐defective variant of Ehlers‐Danlos syndrome

Cited by 65 publications

References 39 publications

Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene

Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene

Prevalence of aortic root dilation in the Ehlers-Danlos syndrome

The first INSPIRIS RESILIA Aortic ValveTM replacement (Edwards Lifesciences) in endocarditis

Contact Info

Product

Resources

About