The Pathogenetic Mechanisms At The Basis Of Aortopathy Associated With Bicuspid Aortic Valve Insights From Omics Models Of Disease And Emergent Technologies

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The Pathogenetic Mechanisms At The Basis Of Aortopathy Associated With Bicuspid Aortic Valve Insights From Omics Models Of Disease And Emergent Technologies

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Author : Amalia Forte
language : en
Publisher: Frontiers Media SA
Release Date : 2018-01-24

The Pathogenetic Mechanisms At The Basis Of Aortopathy Associated With Bicuspid Aortic Valve Insights From Omics Models Of Disease And Emergent Technologies written by Amalia Forte and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-01-24 with categories.

This forum of comprehensive reviews and research studies on distinct aspects of the pathophysiology of BAV aortopathy provides both the state of the art in the knowledge on this complex disease and novel insights into its causes and consequences. The present collection of focused papers also envisions and proposes new therapeutic strategies, novel biomarkers and original risk stratification criteria, for the improvement of patient management.

Multimodality Imaging Innovations In Adult Congenital Heart Disease

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Author : Pastora Gallego
language : en
Publisher: Springer Nature
Release Date : 2021-06-16

Multimodality Imaging Innovations In Adult Congenital Heart Disease written by Pastora Gallego and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-06-16 with Medical categories.

This book focuses on congenital heart disease (CHD) and emerging imaging technologies. It covers all clinically relevant aspects of the fascinating new cardiac imaging technologies, including a comprehensive explanation of their basic principles, practical aspects of novel clinical applications, and detailed descriptions of specific uses in the broad spectrum of clinically important adult CHD. Innovations and emerging technologies for diagnosis and therapeutics, evaluation and treatment are continually evolving, and due to these advances in non-invasive diagnosis, there has been a significant improvement in the survival rates for CHD patient. Novel approaches to trans-catheter interventions and advances in echocardiography, MRI and CT imaging are being developed and incorporated into routine clinical practice, while emerging three-dimensional printing technologies are fundamentally affecting patient care, research, trainee education, and interactions between multidisciplinary teams, patients, and caregivers. In addition, translational technologies on the horizon promise to take this nascent field even further. Exploring the applicability of these emerging technologies in improving our understanding of complex congenital cardiac defect anatomy and physiology will provide new treatment options for this unique population. Written by experts in the field who are also involved in patient care, this book discusses the practical application of innovations in advanced multimodality imaging in the daily clinical routine and offers tips and tricks for beginners.

Elucidating The Pathogenesis Underlying Bicuspid Aortic Valve Disease Using New Disease Models

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Author :
language : en
Publisher:
Release Date : 2022

Elucidating The Pathogenesis Underlying Bicuspid Aortic Valve Disease Using New Disease Models written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022 with categories.

Exploration Of The Multi Scale Nature Of Bicuspid Aortic Valve Aortopathy

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Author : Froso Sophocleous
language : en
Publisher:
Release Date : 2022

Exploration Of The Multi Scale Nature Of Bicuspid Aortic Valve Aortopathy written by Froso Sophocleous and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022 with categories.

Bicuspid Aortic Valve Associated Aortopathy

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Author :
language : en
Publisher:
Release Date : 2013

Bicuspid Aortic Valve Associated Aortopathy written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013 with categories.

From Biology To Clinical Management An Update On Aortic Valve Disease

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Author : Cécile Oury
language : en
Publisher: Frontiers Media SA
Release Date : 2019-04-03

From Biology To Clinical Management An Update On Aortic Valve Disease written by Cécile Oury and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-04-03 with categories.

Calcific aortic valve stenosis is the most frequent valvular heart disease in Western countries, affecting up to 13% of individuals over 75 years. The disease is associated with considerable morbidity and mortality. It is characterized by fibro-calcification of aortic valve cusps and concomitant left ventricular remodelling due to chronic pressure overload, which can evolve into overt heart failure. It progresses very slowly until the onset of symptoms, the indication for aortic valve replacement. Today, about 300,000 aortic valve replacements are performed annually worldwide, either via surgery or transcatheter implantation. This is the only treatment shown to improve survival. There is no pharmacological treatment to prevent or slow disease progression. Major risk factors include older age, congenital anomalies of the aortic valve (bicuspid valve), male gender, hypertension, dyslipidaemia, smoking, and diabetes. However, how these factors contribute to the disease in unclear. Due to the disease itself, patients are at increased risk of both thrombosis and bleeding, which, in addition to advanced age and comorbidities, makes antithrombotic management of these patients difficult. Regarding valve prostheses, the ideal prosthesis either mechanical or biological still does not exist. Clinically available prostheses can lead to major complications, thrombosis or infection, which necessitate reoperation or cause death in 50-60% of patients within 10 years post-implantation. Hence, there are major unmet medical needs in CAVS and more basic and translational research is definitely required. Our Research Topic depicts major challenges and research paths that could be followed to address these major health needs.

The Role Of Vascular Smooth Muscle Cell Dysfunction In Abdominal Aortic Aneurysm Pathogenesis

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Author :
language : en
Publisher:
Release Date : 2025

The Role Of Vascular Smooth Muscle Cell Dysfunction In Abdominal Aortic Aneurysm Pathogenesis written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2025 with categories.

Abdominal aortic aneurysms (AAA) are pathological dilations of the abdominal aorta. Progressive weakening of the aortic wall can lead to life-threatening rupture. Many AAA patients are asymptomatic, making diagnosis challenging. No biomarkers are available to predict disease progression or rupture risk. The only treatment option is invasive surgery, which carries risks and may require follow-up procedures. The lack of medication is caused by the insufficient understanding of the underlying disease mechanisms. More insight into the cells and proteins involved in aortic wall weakening could contribute to improved diagnostics and non-invasive treatments. The aortic wall consists of three layers: the tunica intima (endothelial cells), the tunica adventitia (elastic fibers), and the tunica media (primarily vascular smooth muscle cells, vSMC). vSMC provide structural support and regulate blood pressure and flow through contraction. In AAA tissue, vSMC numbers and structural matrix production are reduced, but the precise mechanisms remain unclear. This thesis investigates the role of vSMC dysfunction in AAA development and progression. In vitro experiments were conducted using vSMC from AAA patients and healthy controls to identify involved proteins and pathways. Additionally, a 3D model was developed to mimic the complex environment of the aorta. In Chapter 2, available literature on vSMC dysfunction in AAA was summarized, identifying five main mechanisms: cell death, phenotypic switch, reduced matrix production, impaired cell division, and disrupted contraction. These insights highlight the importance of vSMC in AAA but have not yet resulted in non-invasive treatments or biomarkers. In Chapter 3, a proteomics screening was performed on vSMC from AAA patients, revealing new proteins not previously identified in prior studies using whole AAA tissue. This underscores the value of cell-specific vSMC research. Chapter 4 describes the development of a protocol to isolate primary vSMC from AAA tissue and measure their contractile capacity in vitro. In Chapter 5, it was found that vSMC contraction in AAA patients varies widely, with contraction levels correlated to the protein NUAK1. Experimental reduction of NUAK1 decreased contraction and disrupted the connection between the cytoskeleton and matrix components, confirming NUAK1’s role in AAA. In Chapter 6, a novel patient-specific Vessel-on-Chip model was developed, in which vSMC and endothelial cells were cultured together. This model demonstrated that vSMC from AAA patients form larger, leakier vessels, potentially due to reduced levels of the protein GJA1, which regulates communication between vSMC and endothelial cells. This thesis provides new insights into vSMC-related mechanisms in AAA. Further validation in advanced models is necessary to translate these findings into biomarkers and therapeutic targets, with the ultimate goal of improving the quality of life for AAA patients.

Bicuspid Aortic Valve And Associated Aortopathy

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Author : Stamatia Prapa
language : en
Publisher:
Release Date : 2013

Bicuspid Aortic Valve And Associated Aortopathy written by Stamatia Prapa and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013 with categories.

Unravelling The Genetic Architecture Of Bicuspid Aortic Valve Related Aortopathy

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Author : Ilse Luyckx
language : en
Publisher:
Release Date : 2018

Unravelling The Genetic Architecture Of Bicuspid Aortic Valve Related Aortopathy written by Ilse Luyckx and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018 with categories.

Genomics To Elucidate The Molecular Basis Of Calcific Aortic Valve Disease

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Author : Sandra Guauque-Olarte
language : en
Publisher:
Release Date : 2015

Genomics To Elucidate The Molecular Basis Of Calcific Aortic Valve Disease written by Sandra Guauque-Olarte and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015 with categories.

Calcific aortic valve disease (CAVD) is a common disease that causes the narrowing of the aortic valve due to fibrosis and calcification of the valve leaflets. The risk of CAVD increases with age. Due to the increase in life expectancy, CAVD is becoming a major public health problem. CAVD is fatal in the absence of medical treatment. Currently, surgery is the only treatment for severe stages of the disease, but nearly 50% of individual with CAVD are not eligible for surgery; mainly because of the presence of comorbidities. Several biological processes have been associated with the disease but the specific cell signaling pathways and genes implicated in CAVD development and progression are yet to be discovered. Thus, it is urgent to discover the susceptibility genes for CAVD, which will help identify individuals at risk as well as biomarkers and therapeutic targets for developing medication to reverse or limit disease progression. The objective of this thesis was to identify the molecular basis of CAVD. Modern genomic approaches including candidate gene and genome-wide association studies (GWAS) were performed with large DNA collections of patients well-characterized for CAVD. Whole-genome gene expression studies were also performed to compare calcified bicuspid and tricuspid valves with normal aortic valves using microarrays and RNA-Sequencing. A GWAS meta-analysis was performed using two cohorts of patients with CAVD from Quebec City and Paris. The integration of different whole-genome approaches revealed a new gene associated with CAVD called CACNA1C. This work also confirmed the potential role of NOTCH1 and RUNX2 in CAVD. In addition, this work identified new genes differentially expressed in calcified compared to normal aortic valves that are implicated in biological processes involved in the disease. These new developments are important to better understand the pathophysiological processes implicated in aortic valve calcification. Several genes differentially expressed in calcified compared to normal valves are targets for existing and emerging drugs. In general, this work has increased the knowledge about the etiology of CAVD in patients with bicuspid and tricuspid aortic valves and has identified new susceptibility genes for the development of this disease. The data generated by this project are the base of future important discoveries that will improve treatment options and the quality of life of patients with CAVD.