Genetic Basis, New Diagnostic Approaches, and Updated Therapeutic Strategies of the Syndromic Aortic Diseases: Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos Syndrome.

Syndromic aortic diseases (SADs) encompass various pathological manifestations affecting the aorta caused by known genetic factors, such as aneurysms, dissections, and ruptures. However, the genetic mutation underlying aortic pathology also gives rise to clinical manifestations affecting other vessels and systems. As a consequence, the main syndromes currently identified as Marfan, Loeys-Dietz, and vascular Ehlers-Danlos are characterized by a complex clinical picture. In this contribution, we provide an overview of the genetic mutations currently identified in order to have a better understanding of the pathogenic mechanisms. Moreover, an update is presented on the basis of the most recent diagnostic criteria, which enable an early diagnosis. Finally, therapeutic strategies are proposed with the goal of improving the rates of patient survival and the quality of life of those affected by these SADs.

Influence of cardiopulmonary bypass set-up and management on clinical outcomes after minimally invasive aortic valve surgery.

INTRODUCTION: Minimally invasive aortic valve replacement (MIAVR) requires changes in cannulation strategy and cardiopulmonary bypass (CPB) management when compared to the conventional approach (CAVR). We aimed at evaluating if these differences could influence perfusion-related quality parameters and impair postoperative outcomes. METHODS: Overall, 339 consecutive patients underwent MIAVR or CAVR between 2014 and 2020 and were analyzed retrospectively. To account for baseline differences, a propensity-matching analysis was performed, obtaining two groups of 97 patients each. RESULTS: MIAVR group had longer CPB time [107 (95-120) vs 95 (86-105) min, p = .003] than CAVR group. Of note, average pump flow rate index [2.4 (2.2-2.5) vs 2.7 (2.4-2.8) l/min/m2, p = .004] was lower in the MIAVR group. Mean arterial pressure was 73 = 9 mmHg vs 62 = 11 mmHg for the MIAVR and CAVR group, respectively (p < .001). Cell-salvaged blood was most commonly used in the MIAVR group (25.8% vs 11.3%, p = .02). Finally, CPB temperature was 32.8°C (32.1-34.8) for MIAVR group vs 34.9°C (33.2-36.1) for the CAVR group (p = .02). Postoperative complications were similar between groups. CONCLUSIONS: In conclusion, despite differences in CPB parameters in patients undergoing CAVR and MIAVR, the incidences of adverse outcomes were similar. However, compared to CAVR, MIAVR was associated with shorter durations of mechanical ventilation and hospital stay as well as less transfusion of blood products.

A current approach to heart failure in Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is a genetic, progressive neuromuscular condition that is marked by the long-term muscle deterioration with significant implications of pulmonary and cardiac dysfunction. As such, end-stage heart failure (HF) in DMD is increasingly becoming the main cause of death in this population. The early detection of cardiomyopathy is often challenging, due to a long subclinical phase of ventricular dysfunction and difficulties in assessment of cardiovascular symptomatology in these patients who usually loose ambulation during the early adolescence. However, an early diagnosis of cardiovascular disease in patients with DMD is decisive since it allows a timely initiation of cardioprotective therapies that can mitigate HF symptoms and delay detrimental heart muscle remodelling. Echocardiography and ECG are standardly used for screening and detection of cardiovascular abnormalities in these patients, although these tools are not always adequate to detect an early, clinically asymptomatic phases of disease progression. In this regard, cardiovascular magnetic resonance (CMR) with late gadolinium enhancement is emerging as a promising method for the detection of early cardiac involvement in patients with DMD. The early detection of cardiac dysfunction allows the therapeutic institution of various classes of drugs such as corticosteroids, beta-blockers, ACE inhibitors, antimineralocorticoid diuretics and novel pharmacological and surgical solutions in the multimodal and multidisciplinary care for this group of patients. This review will focus on these challenges and available options for HF in patients with DMD.