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To study segmental structural and functional aortic properties in Turner syndrome (TS) patients. Aortic abnormalities contribute to increased morbidity and mortality of women with Turner syndrome. Cardiovascular magnetic resonance (CMR) allows segmental study of aortic elastic properties. We performed Pulse Wave Velocity (PWV) and distensibility measurements using CMR of the thoracic and abdominal aorta in 55 TS-patients, aged 13-59y, and in a control population (n = 38;12-58y). We investigated the contribution of TS on aortic stiffness in our entire cohort, in bicuspid (BAV) versus tricuspid (TAV) aortic valve-morphology subgroups, and in the younger and older subgroups. Differences in aortic properties were only seen at the most proximal aortic level. BAV Turner patients had significantly higher PWV, compared to TAV Turner (p = 0.014), who in turn had significantly higher PWV compared to controls (p = 0.010). BAV Turner patients had significantly larger ascending aortic (AA) luminal area and lower AA distensibility compared to both controls (all p < 0.01) and TAV Turner patients. TAV Turner had similar AA luminal areas and AA distensibility compared to Controls. Functional changes are present in younger and older Turner subjects, whereas ascending aortic dilation is prominent in older Turner patients. Clinically relevant dilatation (TAV and BAV) was associated with reduced distensibility. Aortic stiffening and dilation in TS affects the proximal aorta, and is more pronounced, although not exclusively, in BAV TS patients. Functional abnormalities are present at an early age, suggesting an aortic wall disease inherent to the TS. Whether this increased stiffness at young age can predict later dilatation needs to be studied longitudinally.

Background Aortic root dilatation and—dissection and mitral valve prolapse are established cardiovascular manifestations in Marfan syndrome (MFS). Heart failure and arrhythmic sudden cardiac death have emerged as additional causes of morbidity and mortality. Methods To characterize myocardial dysfunction and arrhythmia in MFS we conducted a prospective longitudinal case–control study including 86 patients with MFS (55.8% women, mean age 36.3 yr—range 13–70 yr–) and 40 age—and sex-matched healthy controls. Cardiac ultrasound, resting and ambulatory ECG (AECG) and NT-proBNP measurements were performed in all subjects at baseline. Additionally, patients with MFS underwent 2 extra evaluations during 30 ± 7 months follow-up. To study primary versus secondary myocardial involvement, patients with MFS were divided in 2 groups: without previous surgery and normal/mild valvular function (MFS-1; N = 55) and with previous surgery or valvular dysfunction (MFS-2; N = 31). Results Compared to controls, patients in MFS-1 showed mild myocardial disease reflected in a larger left ventricular end-diastolic diameter (LVEDD), lower TAPSE and higher amount of (supra) ventricular extrasystoles [(S)VES]. Patients in MFS-2 were more severely affected. Seven patients (five in MFS-2) presented decreased LV ejection fraction. Twenty patients (twelve in MFS-2) had non-sustained ventricular tachycardia (NSVT) in at least one AECG. Larger LVEDD and higher amount of VES were independently associated with NSVT. Conclusion Our study shows mild but significant myocardial involvement in patients with MFS. Patients with previous surgery or valvular dysfunction are more severely affected. Evaluation of myocardial function with echocardiography and AECG should be considered in all patients with MFS, especially in those with valvular disease and a history of cardiac surgery.

Background: Cardiovascular magnetic resonance measurements of the volumes of the right and left ventricle and of the flows in the ascending aorta and main pulmonary artery contribute to the assessment of patients with valvular regurgitation or intracardiac or extracardiac shunts. Ventricular volumes are measured by planimetry and summation of end-diastolic and end-systolic areas measured in a stack of ventricular short-axis cines. The volumes of blood flowing through planes transecting the great arteries are measured using phase contrast velocity mapping. The two approaches are essentially different and can be used either for mutual validation, or separately or in combination to quantify regurgitation and/or shunting. In the presence of shunts, the relations between the stroke volumes and arterial flows of each side of the heart vary depending on the level of shunting (for example, atrial, ventricular or ductal). Conclusion: This article aims to explain and illustrate the technical and theoretical basis for calculations using volumetric and flow measurements, providing formulae and diagrams to facilitate the interpretation of results.

Bicuspid aortic valve is difficult to detect on standard transverse images. We aimed to investigate the usefulness of the hammock sign for detection of bicuspid aortic valve. We retrospectively investigated the usefulness of a newly proposed 'hammock sign' in a population of 45 contrast enhanced computer tomographic studies to discern tricuspid (22) from anatomical bicuspid aortic (23) valves. The gold standard of aortic morphology was the definite diagnosis in the patient's medical file, established by computed tomography, magnetic resonance, or surgery. Computer tomographic (CT) studies of each aortic morphology were randomly evaluated for the presence of the hammock sign on coronal and sagittal images, by two readers blinded to the diagnosis. Sensitivity for detecting an anatomic bicuspid valve was 86%, and specificity was 100%. The hammock sign allows for a quick and easy diagnosis of an anatomical bicuspid aortic valve, merely by scrolling through the standard coronal reconstructions of any type of contrast-enhanced thoracic CT study, and regardless of any other findings associated with bicuspid aortic valve. Functional bicuspid aortic valves were not the scope of this study.

IntroductionLymphoedema is a chronic condition caused by lymphatic insufficiency. It leads to swelling of the limb/midline region and an increased risk of infection. Lymphoedema is often associated with mental and physical problems limiting quality of life. The first choice of treatment is a conservative treatment, consisting of exercises, skin care, lymph drainage and compression. Reconstructive lymphatic surgery is also often performed, that is, lymphovenous anastomoses, lymph node transfer or a combination. However, robust evidence on the effectiveness of reconstructive lymphatic surgery is missing. Therefore, the objective of this trial is to investigate the added value of reconstructive lymphatic surgery to the conservative treatment in patients with lymphoedema.Methods and analysisA multicentre randomised controlled and pragmatic trial was started in March 2022 in three Belgian university hospitals. 90 patients with arm lymphoedema and 90 patients with leg lymphoedema will be included. All patients are randomised between conservative treatment alone (control group) or conservative treatment with reconstructive lymphatic surgery (intervention group). Assessments are performed at baseline and at 1, 3, 6, 12, 18, 24 and 36 months. The primary outcome is lymphoedema-specific quality of life at 18 months. Key secondary outcomes are limb volume and duration of wearing the compression garment at 18 months. The approach of reconstructive lymphatic surgery is based on presurgical investigations including clinical examination, lymphofluoroscopy, lymphoscintigraphy, lymph MRI or CT angiography (if needed). All patients receive conservative treatment during 36 months, which is applied by the patient’s own physical therapist and by the patient self. From months 7 to 12, the hours a day of wearing the compression garment are gradually decreased.Ethics and disseminationThe study has been approved by the ethical committees of University Hospitals Leuven, Ghent University Hospital and CHU UCL Namur. Results will be disseminated via peer-reviewed journals and presentations.Trial registration numberNCT05064176

The phenotype of 45,X/46,XY mosaicism is heterogeneous ranging from females with Turner syndrome (TS) to apparently normal males. Males with 45,X/46,XY frequently show stigmata typically associated with TS. We hypothesised that males with 45,X/46,XY have similar cardiovascular pathology as females with 45,X/46,XY. To investigate cardiovascular abnormalities in 45,X/46,XY males and to compare them with 45,X/46,XY females. Patients with 45,X/46,XY mosaicism were selected from the Belgian Registry for Growth and Puberty problems and via the multidisciplinary clinic for disorders of sexual development. EIGHTEEN PATIENTS WERE INCLUDED: 8 raised as females (F) and 10 as males (M). Complete cardiac examination with blood pressure measurement, ECG, echocardiography and MRI. Cardiac parameters were registered for both groups. In a second phase, clinical features and external masculinisation score (EMS) were retrospectively collected from the medical files. A structural heart defect was diagnosed before inclusion in 1 F with coarctation and 1 M with spontaneously closed VSD. A bicuspid aortic valve was found in 8 (3 F, 5 M). Dilation of the ascending aorta was present in 4 M and was severe in 2 young boys. QTc was prolonged in 3 F and 2 M. Males with 45,X/46,XY mosaicism have similar cardiovascular pathology as 45,X/46,XY females. Dilation of the ascending aorta can be important, also in males. We advise cardiac screening and life-long monitoring in all males with 45,X/46,XY mosaicism according to the existing guidelines for Turner syndrome.

We present the case of a 22-year-old man with a congenital mixed aortic valve dysfunction who underwent cardiac Magnetic Resonance Imaging (MRI) for the assessment of aortic valve morphology and function prior to valve replacement. Cardiac MRI showed a four-leaf-clover aortic valve morphology, the typical presentation of a quadricuspid aortic valve. The patient underwent a successful Bentall procedure to replace the aortic valve, aortic root and ascending aorta. This case report illustrates the MRI findings of a quadricuspid aortic valve with associated aortic stenosis and regurgitation.

Doc number: O54