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Marfan or associated syndromes (MFS) are some rare genetic diseases leading to a multisystem damage related to connective tissue fragility. Chronic fatigue and decreased physical endurance are almost constant complaints of patients with MFS. Muscle mass worsens through adolescence, which could explain the bone-mass deficit observed in this population. We hypothesize that a personalized exercise rehabilitation program will improve fitness and quality of life (QoL) of these patients. Self-controlled study with a 6-month home-based cyclo-ergometer and muscular strengthening personalised rehabilitation program based on first ventilatory-threshold. Baseline evaluation was performed 3 months prior to the start of the rehabilitation program, then at the beginning of the rehabilitation program and at 6 months, with a mid-term evaluation at 3 months. We included 28 MFS patients between 7 and 20 years (mean 12.8 ± 3.69 years), of which 11 were females, with a mild aortic dilatation for 50% (mean z-score +2.4), no major valvopathy, no cardiac impairment and a history of pneumothorax for 3 of them; most where under preventive beta-blocker treatment (93%). After a 6-month rehabilitation program no progression in aortic diameters was found. Significant improvement in first ventilatory-threshold was achieved (+15.8% of expected value; P < 0.05), alongside an increase in maximal sustained workload with a mean of +24.5 Watts (17.37–31.63; P < 0.05) associated to a significant increase in VO 2 (+131.58 mL.min−1; 30.17–232.99; P < 0.05), whereas maximal heart rate at effort was reduced by 29.95 bpm (16.17–43.73; P < 0.05). Muscular strength gain was shown both by dominant hand-grip (mean +4.3 kg; 2.45–5.2; P < 0.05) and dominant leg strength (+67.33 Nm; 25.08–109.59; P < 0.05). Overall, self and proxy-reported QoL of participants improved (Fig. 1). Young patients with MFS can safely benefit for a home-based rehabilitation program personalised according to their baseline capacities, improving both their overall fitness, muscular strength and cardiovascular health; with a favourable impact in their global QoL. [ABSTRACT FROM AUTHOR]

Quantification of the pulmonary-to-systemic flow ratio (Qp:Qs) or stroke volume is important in assessing cardiac shunts or regurgitations. While the echocardiography velocity time integral (VTI) method is routinely used, 3D echocardiography offers another non-invasive alternative. This study aims to correlate stroke volume ratios derived from 3D echocardiography with those obtained by conventional method. We prospectively included patients with various cardiac conditions and without systemic valve stenosis or atrioventricular regurgitation who underwent conventional echocardiography with 3D acquisitions (4D auto RVQ and LVQ, GE Healthcare) for ratio assessment. Thirty-five patients with a mean age of 7.9 years old (range: 1.1–16.9) were included, 16 patients with shunt and 19 normal patients. The correlation coefficient between stroke volume ratios obtained by 3D echocardiography and VTI method was 0.876 (P < 0.001). The 3D Qp:Qs was closer to 1 in structurally normal hearts [0.99 ± 0.04] than with the VTI method [1.08 ± 0.23]. 3D echocardiography demonstrates good correlation with VTI method in assessing stroke volume ratios, supporting its utility for evaluating cardiac shunts in situations where VTI calculation is not feasible or reliable (like shunts with pulmonary stenosis). Further studies are warranted to validate its use, particularly in comparison with Qp:Qs ratios derived from cardiac magnetic resonance imaging (MRI) and to explore its broader clinical applications. [ABSTRACT FROM AUTHOR]

Surgical correction is the standard of care for sinus venosus atrial septal defects (SVASD). Transcatheter closure has been recently achieved through placement of a coated stent in the SVC in selected patients with favorable anatomy. However, patient's selection stays challenging. We aimed to assess the utility of the virtual reality (VR) in patient selection for surgical or transcatheter closure. Seven patients were included with a median age of 50 years (5 adults et 2 infants). Patient-specific cardiac scanner data were obtained to create accurate 3D models of the heart using DICOM to PRINT software (v1.0.3.3038, 3D Systems Inc, USA). Cardiac models were then imported into a VR environment (HTC Vive Pro 2 and SteamVR 2.2.3), allowing exploration of the anatomy in immersive details. In all patients, VR provided a comprehensive understanding of SVASD anatomy, including its relationship with adjacent structures. In 3 of 5 adult cases, VR allowed for confirmation of the possibility of percutaneous correction without pulmonary vein obstruction by placing the OPTIMUS XXL® stent in the SVC. For the last 2 adults, VR confirmed that the intra cardiac anatomy was unfavorable for the percutaneous treatment with a risk of pulmonary vein obstruction. These findings were consistent with the multidisciplinary reports for all five patients, which was not known before the simulation. In the two pediatric cases, it facilitated the choice of surgical technic (tunnelization patch or Warden procedure). Surgeons and cardiologists reported enhanced spatial awareness and improved insight into potential surgical approaches (Fig. 1). VR facilitated interdisciplinary collaboration and seems to be a valuable tool for interventional and surgical planning in SVASD repair due to its ability to provide immersive, patient-specific visualization. Further research is warranted to validate its efficacy in larger cohorts and assess its impact on surgical and interventional outcomes. [ABSTRACT FROM AUTHOR]

Predicting aortic root dilation and the risk of aortic dissection in Marfan syndrome remains challenging. Established predictive factors primarily include aortic diameter and younger age. However, a more comprehensive understanding of aortic hemodynamic alterations in this population is warranted. 4D magnetic resonance imaging (MRI) offers a non-irradiating approach for assessing hemodynamic parameters. This study aimed to assess aortic parameters using 4D flow MRI in young patients diagnosed with Marfan syndrome. We prospectively included patients over 12 years old from the "CHU de Toulouse Centre de Référence Marfan" cohort. They underwent MRI with 4D flow sequences and an aortic angiography sequence without contrast agent administration. Pulse wave velocity (PWV) and wall shear stress (WSS) were quantified using Circle CVI software. Since February 2023, we included 13 patients without history of aortic events, all treated with beta-blockers, with a median age of 18 years old (range: 15 to 39). MRI imaging was successfully conducted in all cases. The addition of 4D flow acquisitions extended the examination time by 15 to 25 min and the post-processing time by 5 to 10 min. The median aortic diameter was 35 mm (range: 32 to 48) and Z-score ranged from +1.2 to +6.1. Both PWV and WSS were quantifiable across all cases: the median PWV measured 5.5 m/s (range: 2.2 to 13.5), while the median WSS was 0.104 Pa (range: 0.074 to 1.590). No correlations were observed between age, body surface area, or aortic diameter with either PWV or WSS (Fig. 1). A non-invasive, non-irradiating, free-breathing assessment of aortic hemodynamics using 4D flow MRI sequences is feasible in both adolescent and adult patients with Marfan syndrome, albeit with some challenges. However, further studies with larger patient cohorts, comparison with control groups, and long-term follow-up are necessary to determine if this method could serve as a prognostic marker. [ABSTRACT FROM AUTHOR]

Persistent pulmonary hypertension of the newborn (PPHN) is a serious disease that occurs in 1.9 per 1000 live births. Epoprostenol and treprostinil, witch are prostacyclin analogues, are used by some care teams in the treatment of PPHN, in absence of established proof of their efficacy in this indication. The main objective of this retrospective multicenter study was to evaluate clinical and paraclinical evolution of newborns treated with treprostinil and/or epoprostenol during neonatal period. Inclusion of neonates ≥ 34 SA and aged ≤ 28 days, with clinical signs and ≥ 1 ultrasound sign of pulmonary hypertension, treated with treprostinil and/or epoprostenol between 01/01/17 and 31/12/22 in 4 French teaching hospitals. Data collected included clinical, biological and ultrasound parameters. Seventy patients were included, with a mean age of 39 SA + 2.5 days and a mean birth weight of 3200 g, including 40 congenital diaphragmatic hernia (57%). On arrival in NICU over 90% of newborns had iso or supra-systemic pulmonary hypertension. The introduction of prostacyclin analogues appears to have a beneficial effect on the pre- and post-ductal saturation differential as well as on the echocardiographic evolution of pulmonary hypertension. The temporality of evolution of pulmonary hypertension seems to depend on the underlying etiology due to the different pathophysiological mechanisms. Moreover, our study shows that epoprostenol and treprostinil can be used in neonates suffering from iNO refractory PPHN without significant adverse effects. We report few adverse effects of epoprostenol and treprostinil in neonates treated for in iNO refractory PPHN. However, the heterogeneity of practices between centers requires further studies to establish recommendations for the use of these molecules in severe neonatal pulmonary hypertension. [ABSTRACT FROM AUTHOR]