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 (β = 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

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 (β = 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 ela

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 regurgitatio