Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

Malfait, Fransiska; Wenstrup, Richard J.; Paepe, Anne De

doi:10.1097/gim.0b013e3181eed412

Cited by 240 publications

(257 citation statements)

References 64 publications

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“…4 The classic type of EDS is characterized by joint hypermobility, similar to the one observed in the hypermobility type, but a much more extensive skin involvement (skin hyperextensibility, abnormal wound healing and scar formation), as well as fragility of other connective tissues in some cases (large arteries, cervical insufficiency during pregnancy, recurrent hernias, rectal prolapse etc). 4,19 The diagnosis of EDS classic type is established clinically, although up to 50% of individuals have a mutation in COL5A1 or COL5A2, the genes encoding type V collagen. Therefore, a positive genetic testing supports the diagnosis, whereas a negative test cannot rule it out.…”

Section: Discussionmentioning

confidence: 99%

Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study

et al. 2012

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Section: Discussionmentioning

confidence: 99%

Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study

et al. 2012

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“…Standardised examination protocols exist for determining the likelihood clinically of MFS [5] and EDS [24].…”

Section: Clinical Diagnosismentioning

confidence: 99%

Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome

Zentner

West

Adès

2017

Heart, Lung and Circulation

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Key Points1. A number of inherited conditions can predispose the aorta, and less commonly other blood vessels, to dilatation and/ or rupture.2. Broadly speaking, these conditions are recognised as syndromic when accompanied by a number of systemic features or non-syndromic when the aortic dilatation appears to exist in isolation.3. The commonest syndromic aortopathy is Marfan syndrome and the commonest nonsyndromic aortopathy is that which accompanies congenital bicuspid aortic valve.4. Mutations in a number of genes have been identified, particularly in syndromic aortopathy.5. Although genotype-phenotype relationships exist, the phenotypes of the syndromic aortopathies may have significant overlap .6. When a syndromic aortopathy is suspected, review by a clinical geneticist is instrumental in characterising the clinical signs and the family history.7. Confirmation of a diagnosis (either clinically or by gene testing) allows identification of individuals at increased risk of aortic sequelae who will benefit from active medical management.8. Medical management is usually undertaken by a cardiologist with referral to other specialists (eg cardiothoracic surgeons) as appropriate.9. At risk family members should be offered predictive testing if a mutation is identified, and should otherwise be screened in keeping with the presumptive clinical diagnosis and assessment of risk.10. Pregnancy and the post-partum period confer a higher risk for aortic complications: a. Women with a personal or family history of aortopathy need appropriate preconception screening and counseling.b. Intervention may be required pre-conception and they should be managed closely throughout pregnancy, ideally in a high-risk obstetric clinic. A c c e p t e d M a n u s c r i p t 3 pregnancy, beta blockers can be used in pregnancy) and should include involvement of a cardiologist in the management and decision making for delivery.11. A clinical diagnosis of an inherited aortopathy can be made in the absence of a positive genetic test if the systemic features are consistent with a specific syndromic aortopathy. A familial history of aortic dissection in the absence of both a positive gene test and systemic examination findings may be more difficult to manage without a working clinical diagnosis. However, an inherited risk of dissection should nonetheless be considered in this setting, particularly if the process has affected young individuals and/or in the absence of traditional risk factors.

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“…In such cases a general statement should be given, even if only a quantification can be made case by case. Clinical sensitivity is highly dependent on the EDS type based on fulfilment of the clinical criteria as well as of the biochemical and ultrastructural dermal findings documented in the Villefranche nosology: 1,2 It is 50-90% for EDS type I/II (COL5A1 and COL5A2 gene), 3,4 which is genetically heterogeneous with additional, still unknown gene loci. It is 95% for EDS type IV (COL3A1 gene), 6 EDS types VIIA and VIIB (COL1A1 and COL1A gene, respectively) and EDS type VIA (PLOD1 gene).…”

Section: Clinical Sensitivity (Proportion Of Positive Tests If the DImentioning

confidence: 99%

Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII and variants - update 2012

Mayer¹,

Kennerknecht

Steinmann

2012

Eur J Hum Genet

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Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

Cited by 240 publications

References 64 publications

Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study

Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study

Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome

Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII and variants - update 2012

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