Pathogenic variants in JAG1 are known to cause Alagille syndrome (ALGS), a disorder that primarily affects the liver, lung, kidney, and skeleton. Whereas cardiac symptoms are also frequently observed in ALGS, thoracic aortic aneurysms have only been reported sporadically in postmortem autopsies. We here report two families with segregating JAG1 variants that present with isolated aneurysmal disease, as well as the first histological evaluation of aortic aneurysm tissue of a JAG1 variant carrier. Our observations shed more light on the pathomechanisms behind aneurysm formation in JAG1 variant harboring individuals and underline the importance of cardiovascular imaging in the clinical follow-up of such individuals.

• MeSH
• Alagillův syndrom * genetika   MeSH
• lidé MeSH
• protein jagged-1 genetika   metabolismus   MeSH
• proteiny vázající vápník MeSH
• srdce MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

Patients with atrial fibrillation (AF) are at an approximately 0.5% to 3% increased risk of thromboembolism during and immediately after catheter ablation. Treatment guidelines recommend periprocedural oral anticoagulation plus unfractionated heparin during ablation. Rivaroxaban and dabigatran are the only non-vitamin K oral anticoagulants for which there are randomized controlled trials assessing uninterrupted anticoagulation in patients undergoing catheter ablation of AF. Edoxaban, a direct factor Xa inhibitor, is noninferior vs warfarin for the prevention of stroke or systemic embolism with less major bleeding in patients with nonvalvular AF. The ELIMINATE-AF (Evaluation of Edoxaban Compared With VKA in Subjects Undergoing Catheter Ablation of Nonvalvular Atrial Fibrillation) trial is a multinational, multicenter, prospective, randomized, open-label, parallel-group, blinded-endpoint evaluation (PROBE) study to assess the safety and efficacy of once-daily edoxaban 60 mg (30 mg in patients indicated for a dose reduction) vs vitamin K antagonists (VKA) in patients with nonvalvular AF undergoing catheter ablation (http://www.ClinicalTrials.gov: NCT02942576). A total of 560 patients are planned for randomization to edoxaban or VKA (2:1 ratio) to obtain 450 patients fully compliant with the protocol. Patients will complete 21 to 28 days of anticoagulation prior to the ablation and a 90-day post-ablation period. The primary efficacy endpoint is the composite of all-cause death, stroke, and major bleeding. The primary safety endpoint is major bleeding. A magnetic resonance imaging substudy will assess the incidence of silent cerebral lesions post-ablation. ELIMINATE-AF will define the efficacy and safety of edoxaban for uninterrupted oral anticoagulation during catheter ablation of AF.

• MeSH
• antikoagulancia aplikace a dávkování   škodlivé účinky   MeSH
• časové faktory MeSH
• cévní mozková příhoda diagnostické zobrazování   etiologie   prevence a kontrola   MeSH
• fibrilace síní komplikace   mortalita   patofyziologie   chirurgie   MeSH
• inhibitory faktoru Xa aplikace a dávkování   škodlivé účinky   MeSH
• ischemie mozku diagnostické zobrazování   etiologie   prevence a kontrola   MeSH
• katetrizační ablace * škodlivé účinky   mortalita   MeSH
• klinické protokoly MeSH
• krvácení chemicky indukované   MeSH
• lidé MeSH
• magnetická rezonanční tomografie MeSH
• prospektivní studie MeSH
• pyridiny aplikace a dávkování   škodlivé účinky   MeSH
• rizikové faktory MeSH
• rozvrh dávkování léků MeSH
• thiazoly aplikace a dávkování   škodlivé účinky   MeSH
• vitamin K antagonisté a inhibitory   MeSH
• výsledek terapie MeSH
• výzkumný projekt MeSH
• warfarin aplikace a dávkování   škodlivé účinky   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH
• randomizované kontrolované studie MeSH
• srovnávací studie MeSH