Cardiac abnormalities in the Ehlers-Danlos syndrome.

Beighton, Peter

doi:10.1136/hrt.31.2.227

Cited by 29 publications

(6 citation statements)

References 19 publications

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“…Vascular catastrophes involving the aorta and large arteries such as dilated aorta, rupture of large and small arteries, a dilated pulmonary artery, represent uncommon but potentially lethal complications of various types of EDS (6)(7)(8)(9). It is probable that the vast majority of individuals experiencing serious vascular problems have EDS IV in which type III collagen is defective.…”

Section: Discussionmentioning

confidence: 99%

A new type of Ehlers‐Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar

et al. 2003

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Aim: To describe the clinical spectrum of anomalies of a new type of Ehlers‐Danlos syndrome in 32 patients from a large inter‐related extended family in Qatar. Methods: Among the 32 patients (from 22 families), there were 6 affected pairs of siblings and 2 families with 3 affected siblings. The male to female ratio was 2:1, ages ranging from birth to 18 y (mean 7.4 y). Results: Anomalies included a variable degree of skin hyperextensibility, hypermobility of small and large joints, and tortuous systemic arteries. Peculiar facial features included epicanthic folds, flat saggy cheeks, elongated faces and micrognathia. The combination of an elongated aortic arch and tortuous brachiocephalic arteries was seen in 30 patients (93.8%), aneurysm of the ascending aorta in 3 patients (9.4%), bifid pulmonary artery in 27 patients (84.4%) and multiple severe peripheral stenosis of the right and/or left pulmonary artery in 7 patients (21.9%). A prominent aortic knuckle was observed on the chest roentgenograms of 30 patients (93.8%); inguinal hernia in 11 patients (34%), diaphragmatic hernia and/or hiatus hernia in 7 patients (21.9%); and laryngo‐tracheomalacia in 2 patients (6.3%). Generalized muscle hypotonia was found in 15 neonates (46.9%). Parental consanguinity involved in all the patients was traced to a common ancestor from a large Bedouin tribe in Qatar. These patients are at risk for potentially catastrophic arterial rupture. Linkage to the major loci involved in Ehlers‐Danlos syndrome and other connective tissue disorders, such as Cutis Laxa, Familial Aneurysm, and Osteogenesis imperfecta, was excluded by using specific DNA markers, confirming the uniqueness of this disorder. Conclusion: The study describes a large cohort of patients from the same closely related family, sharing peculiar dysmorphisim and consistent radiological and echocardiographic features different from known types of Ehlers‐Danlos syndrome. As known loci involved in Ehlers‐Danlos syndrome and other connective tissue disorders were excluded by specific DNA markers, this appears to be a new type of Ehlers‐Danlos syndrome or even a new syndrome.

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Section: Discussionmentioning

confidence: 99%

A new type of Ehlers‐Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar

et al. 2003

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“…Because of the friability of the vessel wall and surrounding tissues together with altered wound healing, surgical repair of vascular abnormalities in certain types of EDS patients have not always been successful (Beighton 1969, Leier et al 1980. Our two patients with minimal external findings experienced no major technical problems during surgery and wound healing was good.…”

Section: Discussionmentioning

confidence: 80%

Cardiovascular complications in the Ehlers‐Danlos syndrome with minimal external findings

et al. 1987

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“…Interestingly, advanced cardiovascular involvement tends to occur more commonly in the vascular subtype (type IV) rather than the classic subtype, however, clinical overlap does exist 7. Despite that, varying frequencies of cardiovascular complications of the classic subtype have been reported in the literature including mitral valve prolapse, mild systolic and diastolic dysfunction, aortic and tricuspid regurgitation, dilated aortic root and cardiovascular dysautonomia 5 6 8 9…”

Section: Discussionmentioning

confidence: 99%

“…A smaller percentage of patients have a mutation in COL5A1 or COL5A2, leading to a functionally defective type V collagen 4. The cardiovascular manifestations of EDS have been long described but its exact management strategies are not well defined 5 6. We report a challenging case of aortic root dilation, severe aortic regurgitation and severe dilated cardiomyopathy in a patient with EDS of the classic type.…”

Section: Introductionmentioning

confidence: 96%

Dilated aortic root and severe aortic regurgitation causing dilated cardiomyopathy in classic Ehlers-Danlos syndrome

2016

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Ehlers-Danlos syndrome (EDS) is a group of heritable disorders characterised by vast clinical heterogeneity ranging from the classic constellation of symptoms including skin hyperextensibility, joint hypermobility and skin fragility to the exceedingly critical consequences of arterial rupture and visceral perforation. We describe the case of a 65-year-old male with a history of classic EDS who reported of dyspnoea on exertion, orthopnoea, fatigue and palpitations. He was found to have dilated cardiomyopathy with an ejection fraction of 35%, aortic root dilation and severe aortic valve regurgitation. The authors intend to draw attention to the rare cardiac manifestations of this condition and the therapeutic challenges involved in managing such patients.

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Cardiac abnormalities in the Ehlers-Danlos syndrome.

Cited by 29 publications

References 19 publications

A new type of Ehlers‐Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar

A new type of Ehlers‐Danlos syndrome associated with tortuous systemic arteries in a large kindred from Qatar

Cardiovascular complications in the Ehlers‐Danlos syndrome with minimal external findings

Dilated aortic root and severe aortic regurgitation causing dilated cardiomyopathy in classic Ehlers-Danlos syndrome

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