Intrinsic cardiomyopathy in pediatric Marfan syndrome: predictive factors and risk assessments.

BACKGROUND: Marfan syndrome (MFS) is associated with cardiovascular complications, particularly valvulopathies; however, its association with primary cardiomyopathy remains unclear. METHODS: This retrospective cohort study examined the cardiomyopathy characteristics (CMCs) in pediatric patients with MFS. CMCs were defined as meeting at least one of the following echocardiography or clinical parameters: (1) cardiac index (CI) too low for patient's age, (2) ejection fraction (EF) <50%, and (3) diastolic dysfunction. The predictive factors for CMCs were determined using a multivariable logistic regression model. RESULTS: Among 83 patients with MFS (age, median [range], 12.5 [0.4-22.3] years), 39.8% exhibited CMCs. Only 4 patients (5%) showed heart failure symptoms (NYHA > 1). Independent predictors for CMCs included a systemic score of ≥7 (revised Ghent criteria) and likely pathogenic or pathogenic variants in FBN1, including variants that introduce a premature stop codon, splice site variants, and missense variants involving cysteine. A multivariable score was constructed with an AUC of 0.733. CONCLUSION: This study offers valuable insights into the prevalence and predictors of CMC in pediatric patients with MFS and presents potential strategies for risk assessment of cardiomyopathy. IMPACT: The objective of this study was to elucidate the contentious issue of intrinsic cardiomyopathy in Marfan syndrome and demonstrate its notable occurrence even in pediatric patients who do not exhibit heart failure symptoms or valvular complications. We highlighted the importance of specific FBN1 variants and higher systemic scores in identifying the potential for intrinsic cardiomyopathy in pediatric patients with Marfan syndrome.

Evaluation of Hybrid Surgical Access Approaches for Pulmonary Valve Implantation in an Acute Swine Model.

Percutaneous implantation of the pulmonary valve through peripheral vascular access can be limited due to poor venous access, low patient weight, hemodynamic or rhythmic instability, and size constraints related to the valve. In such cases, hybrid procedures may provide alternatives. Because the most commonly used median sternotomy is unsuitable for chronic trials in large animals, we evaluated several hybrid approaches for pulmonary valve replacement in a swine model. We tested the feasibility of hybrid pulmonary valve implantation in pigs by using inhouse-generated valves containing bare-metal or nitinol stents. Valves consisted of bovine jugular veins, bovine pericardial valves, or sprayed polyurethane valves. Access was achieved through median sternotomy, lower partial sternotomy, transverse sternotomy, or right lateral thoracotomy. The delivery device was introduced in a transventricular manner. Implantation took place under fluoroscopic and epicardial echocardiographic guidance. We achieved implantation of the stented valve in 12 (92.3%) pigs, of which 5 (41.7%) of the implanted valves were in an optimal position. Paravalvular leakage occurred in 2 trials (16.7%). Lower partial sternotomy provided the best trade-off between feasibility and minimized trauma for long-term animal trials. Here we describe our experience with hybrid pulmonary valve implantation in an acute large-animal (swine) model. We demonstrate the feasibility of the procedure in terms of surgical technique and the perioperative management and preparation of the field for a chronic trial.

Pulmonary hypertension in adults with congenital heart disease: Updated recommendations from the Cologne Consensus Conference 2018.

In the summer of 2016, delegates from the German Respiratory Society (DGP), the German Society of Cardiology (DGK) and the German Society of Pediatric Cardiology (DGPK) met in Cologne, Germany, to define consensus-based practice recommendations for the management of patients with pulmonary hypertension (PH). These recommendations were built on the 2015 European Pulmonary Hypertension guidelines, aiming at their practical implementation, considering country-specific issues, and including new evidence, where available. To this end, a number of working groups was initiated, one of which was specifically dedicated to PH in adults associated with congenital heart disease (CHD). As such patients are often complex and require special attention, and the general PAH treatment algorithm in the ESC/ERS guidelines appears too unspecific for CHD, the working group proposes an analogous algorithm for the management of PH-CHD which takes the special features of this patient group into consideration, and includes general measures, supportive therapy, targeted PAH drug therapy as well as interventional and surgical procedures. The detailed results and recommendations of the working group on PH in adults with CHD, which were last updated in the spring of 2018, are summarized in this article.