Echocardiography reveals a high incidence of bicuspid aortic valve in Turner syndrome

Miller, Martha J.; Geffner, Mitchell E.; Lippe, Barbara M.; Itami, Robert M.; Kaplan, Solomon A.; DiSessa, Thomas G.; Isabel-Jones, Josephine; Friedman, William F.

doi:10.1016/s0022-3476(83)80284-4

Cited by 103 publications

(43 citation statements)

References 10 publications

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“…22,23 However, the male predominance (male-to-female ratio Ն3:1 3,4 ) as well as association of BAV with Turner syndrome (45X chromosomal pattern) 24 suggests an X-linked etiology. A heritability study found no X-linkage but did find linkage to chromosomal regions 5q, 13q, and 18q.…”

Section: Geneticsmentioning

confidence: 99%

Ascending Aortic Dilatation Associated With Bicuspid Aortic Valve

2009

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Section: Geneticsmentioning

confidence: 99%

Ascending Aortic Dilatation Associated With Bicuspid Aortic Valve

2009

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“…Clearly, this lesion and coarctation of the aorta frequently occur either alone or in combination. In this syndrome, aortic aneurysms and idiopathic dilatation of the aorta are less commonly found (Asch, 1979;Lie, 1982;Miller et al, 1983). In those cases in which aortic pathology was described, cystic medial necrosis was found (Lie, 1982).…”

Section: Case Reportmentioning

confidence: 95%

Aortic dilatation resulting in chronic aortic regurgitation and complicated by aortic dissection in a patient with turner's syndrome

Goldberg

Pizzarello

Goldman

et al. 1984

Clinical Cardiology

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Summary:A patient with XO Turner's syndrome with a 12-year history of progressive aortic root dilatation resulting in chronic aortic regurgitation is presented. Her case is unique in that it occurred in the absence of coarctation of the aorta, bicuspid aortic valve, or hypertension. Idiopathic dilatation of the aorta may be an additional risk factor to the development of aortic dissection in the setting of Turner's syndrome.

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“…(Biben et al, 2000;Wessels et al, 2005) A male predominance of more than 3:1 has been reported for BAV, and this anomaly is very frequent in the X0 Turner's syndrome, with an incidence rate of 22%-34%, suggesting an X-linked etiology. (Miller et al, 1983;Tadros et al, 2009) (Fig. 1).…”

Section: Present Knowledge Of Genetics Of Bav and Thoracic Aortic Anementioning

confidence: 99%