J Cardiovasc Surg (Torino) 2019 Feb 26;60(1):147-148. Epub 2018 Jun 26.
Clinic for Vascular and Endovascular Surgery, Clinical Center of Serbia, Belgrade, Serbia.
Cardiovasc Res 2021 Jul 29. Epub 2021 Jul 29.
Department of Cardiology, University Hospital Cologne, Cologne, Germany.
Aims: Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in the Fibrillin-1 gene. It is associated with formation of thoracic aortic aneurysms that can potentially be a life-threatening condition due to aortic rupture or dissection. Excessive non-canonical transforming growth factor beta signalling, mediated by activation of extracellular-signal regulated kinases 1/2 (ERK1/2), as well as inducible nitric oxide synthase (NOS2)-dependent nitric oxide production have been identified to drive aortic pathology in MFS through induction of elastin fragmentation and smooth muscle cell apoptosis. Read More
PLoS Genet 2021 Jul 29;17(7):e1009679. Epub 2021 Jul 29.
Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, United States of America.
Numerous genetic studies have established a role for rare genomic variants in Congenital Heart Disease (CHD) at the copy number variation (CNV) and de novo variant (DNV) level. To identify novel haploinsufficient CHD disease genes, we performed an integrative analysis of CNVs and DNVs identified in probands with CHD including cases with sporadic thoracic aortic aneurysm. We assembled CNV data from 7,958 cases and 14,082 controls and performed a gene-wise analysis of the burden of rare genomic deletions in cases versus controls. Read More
J Cardiothorac Surg 2021 Jul 28;16(1):204. Epub 2021 Jul 28.
Department of Thoracic and Cardiovascular Surgery, West-German Heart and Vascular Center Essen, Essen, Germany.
Background: The Medtronic Freestyle prosthesis has proven to be a promising recourse for aortic root replacement in various indications. The present study aims to evaluate clinical outcomes and geometric changes of the aorta after Freestyle implantation.Methods: Between October 2005 and November 2020, the computed tomography angiography (CTA) data of 32 patients were analyzed in a cohort of 68 patients that underwent aortic root replacement using Freestyle prosthesis. Read More
Arterioscler Thromb Vasc Biol 2021 Jul 29:ATVBAHA121316464. Epub 2021 Jul 29.
Department of Pharmacological Sciences, Institute for Systems Biomedicine, Icahn School of Medicine at Mount Sinai, New York. (C.I.C., J.H., B.C., T.H., R.I., F.R.).
Objective: Despite considerable research, the goal of finding nonsurgical remedies against thoracic aortic aneurysm and acute aortic dissection remains elusive. We sought to identify a novel aortic protein kinase that can be pharmacologically targeted to mitigate aneurysmal disease in a well-established mouse model of early-onset progressively severe Marfan syndrome (MFS). Approach and Results: Computational analyses of transcriptomic data derived from the ascending aorta of MFS mice predicted a probable association between thoracic aortic aneurysm and acute aortic dissection development and the multifunctional, stress-activated HIPK2 (homeodomain-interacting protein kinase 2). Read More
JTCVS Tech 2021 Jun 12;7:53-56. Epub 2021 Feb 12.
Cardiovascular Surgery Department, Hospital Universitario del Vinalopó, Elche, Spain.