RESUMEN
BACKGROUND: Left atrial appendage closure (LAAC) for prevention of stroke is validated in patients with nonvalvular atrial fibrillation (NVAF) contraindicated to oral anticoagulation. General anaesthesia (GA) is often used for procedural guidance by transesophageal echocardiography (TEE); however, its use may be challenging in some patients. The aim of the study was to evaluate the safety and the midterm efficacy of a mini-invasive LAAC strategy using micro-TEE under procedural sedation. METHODS: Comparison by propensity score of 2 cohorts of consecutive patients who underwent LAAC: standard TEE-guided LAAC (3-dimensional [3D] TEE under GA) and mini-invasive LAAC strategy (micro-TEE under procedural sedation). The primary endpoint was a composite of embolic or bleeding events, significant per procedural complication, and cardiovascular deaths within 3 months after LAAC. RESULTS: In total, 432 patients were included (78.7 ± 8 years old, 32.4% of women, CHA2DS2VASC score: 4.9 ± 1.1); 127 patients underwent mini-invasive LAAC strategy and were compared with 305 patients standard TEE-guided LAAC. The mini-invasive strategy was achieved in 122 of 127 (96.1%) planned patients. The primary endpoint occurred in 11.2% of patients from the mini-invasive LAAC strategy group and in 10.3% of patients from the standard TEE group (absolute difference = 0.9% [-6.4; 4.5], hazard ratio = 1.11 [0.56; 2.19], P = 0.76). Procedural times, fluoroscopy duration, and hospital stays were shorter in the mini-invasive LAAC strategy group (P < 0.001). CONCLUSIONS: The mini-invasive LAAC strategy is safe and effective compared with the standard TEE-guided LAAC strategy. A mini-invasive LAAC strategy may also be an important tool to help physicians to treat more patients as LAAC indications evolve in the future.
RESUMEN
BACKGROUND: Few clinical data are available on NEXN mutation carriers, and the gene's involvement in cardiomyopathies or sudden death has not been fully established. Our objectives were to assess the prevalence of putative pathogenic variants in NEXN and to describe the phenotype and prognosis of patients carrying the variants. METHODS: DNA samples from consecutive patients with cardiomyopathy or sudden cardiac death/sudden infant death syndrome/idiopathic ventricular fibrillation were sequenced with a custom panel of genes. Index cases carrying at least one putative pathogenic variant in the NEXN gene were selected. RESULTS: Of the 9516 index patients sequenced, 31 were carriers of a putative pathogenic variant in NEXN only, including 2 with double variants and 29 with a single variant. Of the 29 unrelated probands with a single variant (16 males; median age at diagnosis, 32.0 [26.0-49.0] years), 21 presented with dilated cardiomyopathy (prevalence, 0.33%), and 3 presented with hypertrophic cardiomyopathy (prevalence, 0.14%). Three patients had idiopathic ventricular fibrillation, and there were 2 cases of sudden infant death syndrome (prevalence, 0.46%). For patients with dilated cardiomyopathy, the median left ventricle ejection fraction was 37.5% (26.25-50.0) at diagnosis and improved with treatment in 13 (61.9%). Over a median follow-up period of 6.0 years, we recorded 3 severe arrhythmic events and 2 severe hemodynamic events. CONCLUSIONS: Putative pathogenic NEXN variants were mainly associated with dilated cardiomyopathy; in these individuals, the prognosis appeared to be relatively good. However, severe and early onset phenotypes were also observed-especially in patients with double NEXN variants. We also detected NEXN variants in patients with hypertrophic cardiomyopathy and sudden infant death syndrome/idiopathic ventricular fibrillation, although a causal link could not be established.