A Comparison of Echocardiography and Magnetic Resonance Imaging in Cardiovascular Screening of Adults with Turner Syndrome

Abstract

The high mortality rate from aortic dissection of women with Turner syndrome (TS) achieving ovum donation pregnancies has highlighted the need for a refinement of cardiac screening protocols. Echocardiography and magnetic resonance imaging (MRI) are used to assess the risk factors, aortic root dilatation, bicuspid aortic valve, and coarctation, but the relative merits of each modality are unclear. Cardiovascular screening was performed in 128 unselected women with TS (mean age +/- SD, 31.1 +/- 8.5 yr) using echocardiography (n = 120) and MRI (n = 115) and in 36 age-matched normal control women. Clinical history, anthropometric measurements, blood pressure, and metabolic parameters were recorded. Echocardiography was normal in 53% of women with TS; MRI was normal in 34%. Aortic root dilatation was identified in 16% of women by echocardiography, 33% on MRI criteria, and 7% by both modalities. Height-adjusted echocardiographic aortic root dimensions were greater in TS than controls (2.90 vs. 2.62 cm; P = 0.010). Bicuspid aortic valve and increasing age were associated with greater aortic dimensions; the latter effect was more marked in TS than controls. On MRI, ascending aortic diameter was greater in TS than control women (2.83 vs. 2.52 cm; P = 0.029), but descending aortic diameter and ascending/descending aortic ratio were not, because these may be affected by the presence of coarctation. The two techniques are complementary and identify different aspects of cardiovascular pathology. Ascending/descending ratio on MRI circumvents issues of stature, but may be influenced by descending aortic abnormalities. We present reference ranges for absolute aortic dimensions in a TS population to aid future interpretation of these measurements.

Cardiovascular findings and management in Turner syndrome: insights from a French cohort

“…Data on BAV could indicate that cardiac diagnosis in particular is poor, even in the presence of a timely cardiac assessment for all patients in a reference center. Concerning the differences in diagnosis delay between BAV and aortic coarctation, we cannot exclude that our population might have higher rates of unknown aortic coarctation, as previously demonstrated in other cohorts (14,15). Hence, this supports the fact that all patients with TS should be subjected to a systematic cardiovascular review (3).…”

“…It constitutes a large population, including infants, children, adolescents, and adult patients, followed over a long period. Most studies on cardiovascular status in patients with TS have included less patients (13,14,15). The largest study by Mazzanti et al (16) included 594 patients with TS aged 1 month to 24 years.…”

Aortic Dilatation and Dissection in Turner Syndrome

“…13,14 A recent combined echocardiography and magnetic resonance imaging study found that Ϸ75% of adult women with TS had significant cardiovascular abnormalities. 11 In recent years, there have been reports of a high rate of aortic dissections in TS, including patients without predisposing factors such as bicuspid aortic valve. [15][16][17] Possibly accounting for aortic complications, there seems to be a generalized dilatation of major vessels in women with TS, including the aorta, brachial, and carotid arteries.…”

Cardiovascular Disorders of Turner's Syndrome: A Review

“…The location of the aortic dilation typically involves the aortic root, but occasionally extending to the aortic arch, the descending aorta, or at the repair site for a previous coarctation of the aorta [15]. Compared to the controls, the TS patients had larger diameters of the aorta at the level of the sinuses of Valsalva, the sinutubular junction, and the ascending aorta [30], but descending aortic diameter and ascending/ descending aortic ratio were not [17].…”

“…An echocardiographic evaluation of 594 TS patients revealed a significant difference in the prevalence of cardiovascular malformations between different types of karyotypes, where partial anomalous pulmonary venous drainage and aortic coarctation were more common in the patients with 45,X karyotypes, whereas bicuspid aortic valve and aortic valve disease were phenotypes of X-structural abnormalities [16]. With the popularly used atraumatic diagnostic means, cardiovascular abnormalities were increasingly screened and investigated [17]. The aim of the present article is to make a comprehensive review on the clinical features of the cardiovascular spectrum in TS patients.…”