Turner’s syndrome associated with bicuspid aortic stenosis and dissecting aortic aneurysm

Women with Turner's syndrome (TS) have a threefold increase in mortality, primarily as a result of their cardiovascular complications. Recently, the risk of fatal aortic dissection has come to light as a major cause of mortality in women with TS. The aim of this study was to assess the prevalence of aortic root dilatation in a group of women with TS and to investigate the factors contributing to its development. Thirty-eight women with TS attending a dedicated adult Turner clinic were examined clinically and by M-mode and two-dimensional echocardiography on at least one occasion. Aortic root dilatation was defined as an aortic root diameter greater than the 95th centile for body surface area. Fasting serum lipid concentrations were measured in all women. Additionally, 18 subjects underwent noninvasive assessment of central arterial stiffness using applanation tonometry. Fifty percent of subjects were hypertensive and a similar number had an abnormal echocardiogram. A bicuspid aortic valve was present in 33% of subjects, 16 women (42%) had ascending aortic root dilatation. This was associated with a bicuspid aortic valve in four women and hypertension in 11. Two women had isolated aortic root dilatation. Aortic root diameter was significantly associated with systolic blood pressure (r = 0.5, P = 0.003) and left ventricular thickness (r = 0.5, P = 0.02). There was no association with serum lipids or arterial compliance. Structural cardiac abnormalities are present in up to 50% of women with Turner's syndrome. Aortic root dilatation is a significant risk in women with Turner's syndrome and is closely dependent on blood pressure. Aortic root dilatation does not appear to be related to atherosclerosis and is more likely to be due to a mesenchymal defect. Regular surveillance of the aortic root diameter is essential in all women with Turner's syndrome and hypertension should be treated aggressively when present in order to minimize the risk of potentially fatal aortic dissection.

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“…(1976); Beskow & Lundgren, 1976; Edwards et al . (1978); Lie (1982); Slater et al . (1982); Price & Wilson (1983); Goldberg et al .…”

Section: Discussionmentioning

confidence: 99%

Hypertension is a major risk factor for aortic root dilatation in women with Turner's syndrome

Elsheikh¹,

Casadei

Conway

et al. 2001

Clinical Endocrinology

155

101

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“…6 These most commonly include coarctation of the aorta, a bicuspid aortic valve, aortic regurgitation, aortic root dilation, and systemic hypertension.7 The 45 XO genotype has been associated with an increased risk of aortic dissection.3 As of today, there has only been one report of a patient with Noonan's syndrome suffering dissection of the ascending aorta. Since patients with the Noonan's phenotype have a high incidence of cardiac abnormalities similar to those seen in Turner's syndrome, a thorough cardiac evaluation with echocardiography and Doppler ultrasound is important to assess these abnormalities that may predispose the patient to aortic dissection.…”

Section: Discussionmentioning

confidence: 99%

Noonan's Syndrome Associated with Spontaneous Rupture of the Ascending Aorta

Tousimis¹,

Deshmukh

2000

Vascular Surgery

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Noonan's syndrome associated with spontaneous rupture of the ascending aorta is rare. Review of the literature reveals only one such reported case. The authors describe a 41-year-old male with Noonan's syndrome who initially presented with lower extremity claudication. Computed tomography and digital subtraction angiography disclosed an abnormal dilation of the ascending thoracic aorta and a distal abdominal aortic dissection. The patient underwent successful aortoiliac bypass graft. Seven months later, he suffered rupture of his ascending aorta, resulting in death.

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“…Die histologische Grundlage der Aortenwandschwäche ist bei einigen der Patientinnen mit UTS im Auftreten einer zystischen Medianekrose zu suchen (10,13,18,24,26), während die Aneurysmawand anderer UTS-Patientinnen, wie auch in unserem 2. Fall, keine derartigen Veränderungen aufwies (2, 12, 13).…”

Section: Diskussionunclassified

Aortenaneurysmen beim Ullrich-Turner-Syndrom

Buheitel

Singer²,

Hofbeck³

1996

Klin Padiatr

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Annual echocardiographic surveillance of the diameter of the ascending aorta is necessary in all patients with UTS. A sudden increase of the diameter or a diameter of 5-6 cm are criteria for the elective surgical replacement of the aortic root. Vigorous treatment of arterial hypertension is mandatory. Patients with dilated ascending aorta or coarctation of the aorta should avoid competitive sports and all sports associated with the risk of trauma to the thorax, i.e. boxing or jumping from diving platforms.

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Turner’s syndrome associated with bicuspid aortic stenosis and dissecting aortic aneurysm

Cited by 19 publications

References 10 publications

Hypertension is a major risk factor for aortic root dilatation in women with Turner's syndrome

Hypertension is a major risk factor for aortic root dilatation in women with Turner's syndrome

Noonan's Syndrome Associated with Spontaneous Rupture of the Ascending Aorta

Aortenaneurysmen beim Ullrich-Turner-Syndrom

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