Abnormal Aortic Wall Properties in Women with Turner Syndrome.

BACKGROUND: Turner syndrome (TS) is associated with aortic dilatation and dissection, but the underlying process is unclear. The aim of this study was to investigate the elastic properties and composition of the aortic wall in women with TS. METHODS: In this cross-sectional study, 52 women with TS aged 35 ± 13 years (50% monosomy, 12 with bicuspid aortic valve [BAV] and 4 with coarctation) were investigated using carotid-femoral pulse wave velocity (CF-PWV) by echocardiography and ascending aortic distensibility (AAD) and aortic arch pulse wave velocity (AA-PWV) by magnetic resonance imaging (MRI). As control group, 13 women with BAV without TS and 48 healthy patients were included. RESULTS: Women with TS showed a higher AA-PWV (ß = 1.08, confidence interval [CI]: 0.54-1.62) after correcting for age and comorbidities compared with controls. We found no significant difference in AAD and CF-PWV. In women with TS, the presence of BAV, coarctation of the aorta, or monosomy (45, X) was not associated with aortic stiffness. In addition, aortic tissue samples were investigated with routine and immunohistochemical stains in five additional women with TS who were operated. The tissue showed more compact smooth muscle cell layers with abnormal deposition and structure of elastin and diminished or absent expression of contractile proteins desmin, actin, and caldesmon, as well as the progesterone receptor. CONCLUSION: Both aortic arch stiffness measurements on MRI and histomorphological changes point toward an inherent abnormal thoracic aortic wall in women with TS.

The role of experience in echocardiographic identification of location and extent of mitral valve prolapse with 2D and 3D echocardiography.

Contradiction exists on the incremental value of two-dimensional (2D) and 3D transoesophageal echocardiography (TOE) over 2D transthoracic echocardiography (TTE) for the detection of mitral valve (MV) prolapse in readers with different echocardiographic experience. Twenty patients and five healthy persons were retrospectively identified who had undergone 2D-TTE, 2D-TOE and 3D-TOE. Fifteen (75 %) patients had surgical evidence of prolapse of the posterior MV leaflet and five patients (25 %) had a dilated MV annulus without prolapse. Three reader groups with different echocardiographic expertise (novice, trainees, cardiologists) scored thus in total 675 posterior scallops. Overall there was an improvement in agreement and Kappa values from novice to trainees to cardiologists. Diagnostic accuracies of 2D-TOE were higher than those of 2D-TTE mainly in novice readers. The incremental value of 3D-TOE over 2D-TOE was mainly seen in specificities. Time to diagnosis was dramatically reduced from 2D to 3D-TEE in all reader groups (all P < 0.001). 3D-TOE also improved the agreement (+12 to +16 %) and Kappa values (+0.14 to +0.21) in all reader groups for the exact description of P2 prolapse. Differences between readers with variable experience in determining the precise localization and extent of the prolapsing posterior MV scallops exist in particular in 2D-TTE analysis. 3D-TOE analysis was extremely fast compared to the 2D analysis methods and showed the best diagnostic accuracy (mainly driven by specificity) with identification of P1 and P3 prolapse still improving from novice to trainees to cardiologists and provided optimal description of P2 prolapse extent.

Long-lasting symptoms and diagnostics in a patient with unrecognized right sided heart failure: Why listening to the heart is so important.

M Ebstein is usually diagnosed in early childhood or adolescence. The young woman in our case complainted of fatigue and shortness of breath, on physical examination she showed signs of heart failure with raised central venous pressure, palpable liver, an a cardiac murmer. Based on these findings she should have been referred to a cardiologist in an early stage after which transthoracic echocardiography resulted in the correct diagnosis. In this case the anomaly was missed for many years by different specialists and the patient was treated for liver disease, while she was suffering from liver congestion due to right-sided heart failure.

Long-term outcome and quality of life after arterial switch operation: a prospective study with a historical comparison.

AIM.: The study aims to describe the long-term cardiological and psychological results of our first surgical cohort of arterial switch operation (ASO) patients and compare the results with our earlier series of Mustard patients. METHODS.: Twenty-four survivors of ASO operated in our center (1985-1990) were evaluated by electrocardiography, echocardiography, magnetic resonance imaging, exercise testing, 24-hour Holter-monitoring, and health-related quality of life questionnaire. The results were compared with 58 adult Mustard patients who were evaluated in 2001 using the same study protocol. RESULTS.: Arterial switch operation was performed at a median age of 13 days and Mustard operation at 2 years. Median follow-up was 22 years (range 20-25) and 25 years (22-29), respectively. After ASO, survival was better (P =.04). The event-free survival after 22 years was 77% after ASO vs. 44% after Mustard (P =.03). Good systemic ventricular function was present in 93% after ASO vs. 6% after Mustard (P <.01). Exercise capacity in ASO was 85% of predicted, compared with 72% in Mustard patients (P =.01). Aortic regurgitation was found in 21% of ASO patients vs. 16% in Mustard patients. Arterial switch patients vs. Mustard patients reported significantly better quality of life and less somatic complaints. CONCLUSION.: The progression made in surgical treatment for transposition of the great arteries from Mustard to ASO has had a positive impact on survival, cardiac function, exercise capacity, and also self-reported quality of life and somatic complaints. Longer follow-up is warranted to monitor aortic regurgitation.

Geometric errors of the pulsed-wave Doppler flow method in quantifying degenerative mitral valve regurgitation: a three-dimensional echocardiography study.

BACKGROUND: The aim of this study was to estimate geometric errors made by the two-dimensional (2D) transthoracic echocardiographic (TTE) pulsed-wave Doppler flow (PWDF) method in calculating regurgitant volume (RVol) and effective regurgitant orifice area (EROA) in degenerative mitral regurgitation (MR) by comparison with the three-dimensional (3D) transesophageal echocardiographic (TEE) PWDF method. METHODS: RVol and EROA were calculated in 22 patients with degenerative MR using the conventional 2D TTE PWDF method on the basis of monoplanar dimensions and a circular geometric assumption of the cross-sectional areas (CSAs) of the mitral annulus (MA) and the left ventricular outflow tract (LVOT) and the 3D TEE PWDF method, in which the CSAs of the MA and LVOT were measured directly in "en face" views. Diameters of the MA and LVOT were also measured in similar views as with TTE imaging in 3D TEE data sets. RESULTS: Both the MA and LVOT were oval. Mean MA diameters were 41 ± 4 mm (3D TEE major axis), 31 ± 4 mm (3D TEE minor axis), 39 ± 5 mm (2D TTE imaging), and 38 ± 5 mm (2D TEE imaging). Mean LVOT diameters were 29 ± 4 mm (3D TEE major axis), 21 ± 2 mm (3D TEE minor axis), 22 ± 2 mm (2D TTE imaging), and 23 ± 2 mm (2D TEE imaging). Compared with 3D TEE measurements, mitral annular CSA was overestimated by 13 ± 12% on 2D TTE imaging and by 7 ± 14% on 2D TEE imaging, while LVOT CSA was underestimated by 23 ± 10% and 17 ± 10%, respectively. Mean values of RVol were 95 ± 43 mL (3D TEE PWDF), 137 ± 56 mL (2D TTE PWDF), 120 ± 45 mL (2D TEE PWDF), and 111 ± 49 mL (flow convergence). Mean EROAs were 69 ± 34 mm2 (3D TEE PWDF), 98 ± 45 mm2 (2D TTE PWDF), 88 ± 42 mm2 (2D TEE PWDF), and 79 ± 36 mm2 (flow convergence). Observer variability for 3D TEE imaging was better than for 2D imaging. CONCLUSIONS: The 2D TTE PWDF method overestimates mitral RVol and EROA significantly because monoplanar 2D measurements represent mitral annular major-axis diameter and LVOT minor-axis diameter, and assumed circular CSAs of the MA and LVOT are oval.