Cross-Sectional and Longitudinal Assessment of Aortic Root Dilation and Valvular Anomalies in Hypermobile and Classic Ehlers-Danlos Syndrome

Atzinger, Carrie; Meyer, Richard A.; Khoury, Philip R.; Gao, Zhiqian; Tinkle, Brad T.

doi:10.1016/j.jpeds.2010.11.023

Cited by 66 publications

(71 citation statements)

References 7 publications

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“…4 Joint hypermobility in classical EDS is best managed by rheumatologists together with physiotherapy and occupational therapy. Shin pads can be helpful to reduce injury, particularly during childhood, and can be custom-made through local appliance departments.…”

Section: Classical Ehlers-danlos Syndromementioning

confidence: 99%

“…A high proportion of childhood embryonal cancers, such as retinoblastoma and pleuropulmonary blastoma, are caused by germline mutations in RB1 and DICER1, respectively. 3,4 By contrast, CPG mutations make a small contribution to some adult cancers, such as prostate and lung cancer. However, germline CPG mutations in multiple genes predispose to other adult cancers, such as breast, colorectal and ovarian cancer (Table 1).…”

Section: Cancer Predisposition Genesmentioning

confidence: 99%

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Ehlers–Danlos syndrome – a commonly misunderstood group of conditions

Sobey

2014

Clinical Medicine

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Section: Classical Ehlers-danlos Syndromementioning

confidence: 99%

Section: Cancer Predisposition Genesmentioning

confidence: 99%

Ehlers–Danlos syndrome – a commonly misunderstood group of conditions

Sobey

2014

Clinical Medicine

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“…Aortic dilatation has been reported in the classic and hypermobile subtypes. However, most subtypes of EDS are a more benign condition with respect to aortic dissection risk [9]. The rarer (autosomal recessive) kyphoscolitic subtype of EDS has also been associated with vascular rupture [8].…”

Section: Ehlers Danlos Syndrome (Eds)mentioning

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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“…Vascular type (Type 4) EhlersDanlos Syndrome is prone to cause dissection without aneurysm formation. [29,30] Surgical results in these patients have been poor. [30] Patients with a bicuspid aortic valve are predisposed to root aneurysms because of the associated aortopathy.…”

Section: Geneticmentioning

confidence: 99%

“…[29,30] Surgical results in these patients have been poor. [30] Patients with a bicuspid aortic valve are predisposed to root aneurysms because of the associated aortopathy. An exact inheritance pattern for bicuspid disease has not been determined, rather, it's believed that most cases of bicuspid valves are due to multiple genes that interact causing abnormal root structure.…”

Section: Geneticmentioning

confidence: 99%