BicuspidAneurysmsStenosisThoracic aortic aAneurysmMutationsEndotheliumRegurgitationAortaCongenital heartDissectionCardiovascular DiseaseVariantsCalcificationArchVascularMorphologyMyxomatousSequencingAffectsIntracranialPhenotypeSingle ventricleLociRheumaticLeafletsSeptaTissueInsightIncidenceCommonlyHeart diseaseEtiologyAcuteDefectsVariantCuspsPathways
Bicuspid16
- Bicuspid aortic valve is a common congenital anomaly but does not cause functional problems unless aortic valve stenosis, aortic valve regurgitation, aortic root dilatation, or dissection or infective endocarditis occurs. (medscape.com)
- Sir William Osler was one of the first to recognize the bicuspid aortic valve as a common congenital anomaly of the heart. (medscape.com)
- [ 2 ] However, bicuspid aortic valve is mentioned only briefly in many pediatric and cardiology textbooks. (medscape.com)
- A congenitally bicuspid aortic valve has two functional leaflets. (medscape.com)
- Abnormalities in this area lead to the development of a bicuspid valve, often through incomplete separation (or fusion) of valve tissue. (medscape.com)
- Bicuspid aortic valve is often observed with other left-sided obstructive lesions such as coarctation of the aorta or interrupted aortic arch , suggesting a common developmental mechanism. (medscape.com)
- The bicuspid valve is composed of two leaflets or cusps, usually of unequal size. (medscape.com)
- Bicuspid aortic valve with unequal cusp size. (medscape.com)
- At least half of all congenitally bicuspid valves have a low raphe, which never attains the plane of the attachments of the two commissures and never extends to the free margin of the conjoined cusp. (medscape.com)
- [ 8 ] A left-dominant coronary system (ie, posterior-descending coronary artery arising from the left coronary artery) is more commonly observed with bicuspid aortic valve. (medscape.com)
- The left main coronary artery may be up to 50% shorter in patients with a bicuspid aortic valve. (medscape.com)
- Occasionally, the coronary ostium may be congenitally stenotic in association with bicuspid aortic valve. (medscape.com)
- Bicuspid aortic valve (BAV) is a common congenital heart defect (population incidence, 1-2%) that frequently presents with ascending aortic aneurysm (AscAA). (fondationleducq.org)
- The bicuspid valve may also be completely competent, producing no regurgitant flow. (medscape.com)
- Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions. (cdc.gov)
- Mutations in NOTCH1 have been linked to bicuspid aortic valve (BAV) and aortopathy in humans. (mdpi.com)
Aneurysms3
- transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. (nih.gov)
- Thoracic aortic aneurysms (TAA) are a significant cause of morbidity and mortality in humans. (mdpi.com)
- Up to 20% of thoracic aortic aneurysms are inherited, with heterogeneous genetic factors and variable penetrance [13] . (rbht.nhs.uk)
Stenosis7
- Pomerance A (1972) Pathogenesis of aortic stenosis and its relation to age. (springer.com)
- Passik CS, Ackermann DM, Pluth JR, Edwards WD (1987) Temporal changes in the causes of aortic stenosis: a surgical pathologic study of 646 cases. (springer.com)
- Peterson MD, Roach RM, Edwards JE (1985) Types of aortic stenosis in surgically removed valves. (springer.com)
- Aortic stenosis - cause? (librepathology.org)
- 75 [4] -100% [5] of valves with calcific degeneration, i.e. calcific aortic stenosis . (librepathology.org)
- Amyloid deposition in the aortic valve is the precursor lesion of calcific aortic stenosis . (librepathology.org)
- Valve morphology may be predictive of problems of stenosis, insufficiency, or both. (medscape.com)
Thoracic aortic a3
- gene mutations have been identified in people with familial thoracic aortic aneurysm and dissection ( familial TAAD). (nih.gov)
- F Familial thoracic aortic aneurysm (FTAA) is more common than previously recognised and has an indolent growth pattern that is silent but lethal. (rbht.nhs.uk)
- Loci for isolated thoracic aortic aneurysm have been identified on chromosomes 11q (AAT1) and 5q (AAT2) and pathogenic variants in the MYH11, ACTA2, MYLK and PRKG1 genes are known causes [13] . (rbht.nhs.uk)
Aneurysm1
- Loeys-Dietz syndrome (LDS) is an aortic aneurysm syndrome characterised by vascular, skeletal, cutaneous, and craniofacial findings. (rbht.nhs.uk)
Mutations3
- Causative gene mutations (for example, NOTCH1, SMAD6) are known for ≤1% of nonsyndromic BAV cases with and without AscAA5-8, impeding mechanistic insight and development of therapeutic strategies. (fondationleducq.org)
- Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease. (cdc.gov)
- For example, bone morphogenetic protein receptor type 2 ( BMPR2 ) mutations are observed in 60-80% of familial (FPAH) cases, but data from population registries indicate that penetrance of the disease phenotype ranges from 14 to 42% [ 6 ]. (biomedcentral.com)
Endothelium2
- From here, a subpopulation of cells will develop into the endothelium of the aortic arch arteries while others will migrate into the outflow tract to form the aorticopulmonary and truncal septa. (wikipedia.org)
- In addition, GLSP protected against the aortic endothelium activation. (thno.org)
Regurgitation1
- However, redundancy and prolapse of cusp tissue can lead to valve regurgitation. (medscape.com)
Aorta3
- [ 12 , 13 ] The dilatation may involve the ascending aorta (most commonly) but may also involve the aortic root or transverse aortic arch. (medscape.com)
- the conclusion was that valve morphologic characteristics and function and age at the time of coarctation of the aorta repair had no impact to minimal impact on aortic dimensions. (medscape.com)
- Cardiovascular involvement may include inflammation of the aorta, aortic valve insufficiency or disturbances of the heart's electrical conduction system. (findzebra.com)
Congenital heart2
- A Congenital Heart Defect (CHD), also known as a congenital heart anomaly and congenital heart disease, is a defect in the structure of the heart or great vessels that is present at birth. (imedpub.com)
- A congenital heart defect is classed as a cardiovascular disease. (imedpub.com)
Dissection2
- Spontaneous coronary artery dissection (SCAD) is frequently reported as a disorder that primarily affects women without risk factors for cardiovascular disease. (biomedcentral.com)
- Predicting the risk of rupture or dissection based upon aortic dimension is possible. (rbht.nhs.uk)
Cardiovascular Disease1
- Atherosclerosis is the main pathophysiological foundation of cardiovascular disease, which was caused by inflammation and lipid metabolism disorder, along with vascular calcification. (thno.org)
Variants1
- Here, we report the identification of variants in ROBO4 (which encodes a factor known to contribute to endothelial performance) that segregate with disease in two families. (fondationleducq.org)
Calcification9
- With degeneration of aging valves, sclerosis and calcification can occur. (medscape.com)
- Aortic calcification leads to reduced plaque stability and eventually causes plaque rupture which leads to cardiovascular events. (thno.org)
- Presently, the drug to treat aortic calcification remains not to be available. (thno.org)
- It has multiple pharmacological effects, but no research on aortic calcification during atherosclerosis was performed. (thno.org)
- This study investigated the effects of GLSP on atherosclerosis and aortic calcification and revealed the underlying mechanism. (thno.org)
- In vivo , 8-week-aged male LDLR -/- mice were fed a high-fat diet to induce atherosclerosis along with aortic calcification. (thno.org)
- Subsequently, the mice tissues were collected to evaluate the effects of GLSP on atherosclerosis, and aortic calcification, and to reveal the underlying mechanism. (thno.org)
- We observed GLSP attenuated plaque area and aortic calcification in the mice with early and advanced atherosclerosis. (thno.org)
- Moreover, GLSP inhibited aortic calcification by inactivating RUNX2-mediated osteogenesis in HASMCs. (thno.org)
Arch1
- The cardiac neural crest complex plays a vital role in forming connective tissues that aid in outflow septation and modelling of the aortic arch arteries during early development. (wikipedia.org)
Vascular1
- The disease is characterized by pulmonary vascular endothelial dysfunction and proliferative remodeling giving rise to increased pulmonary artery pressures and pulmonary vascular resistance. (biomedcentral.com)
Morphology1
- Valve leaflet orientation and morphology can vary. (medscape.com)
Myxomatous1
- Rabkin E, Aikawa M, Stone JR, Fukumoto Y, Libby P, Schoen FJ (2001) Activated interstitial myofibroblasts express catabolic enzymes and mediate matrix remodeling in myxomatous heart valves. (springer.com)
Sequencing2
- The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease. (cdc.gov)
- To identify new risk genes, we utilized an international consortium of 4241 PAH cases with exome or genome sequencing data from the National Biological Sample and Data Repository for PAH, Columbia University Irving Medical Center, and the UK NIHR BioResource - Rare Diseases Study. (biomedcentral.com)
Affects3
- Affects the mitral and aortic valves. (librepathology.org)
- Aortic valve disease is one of the most common congenital heart defects and affects over 5% of children with heart disease. (davislab.org)
- Ankylosing spondylitis (AS) is a systemic rheumatic disease, meaning it affects the entire body. (findzebra.com)
Intracranial1
- BACKGROUND: ACT001 is an anti-inflammatory agent that has been widely investigated for its role in tumors, intracranial diseases, and fibrotic diseases, but its effect on acute lung injury is less known. (bvsalud.org)
Phenotype2
- Rabkin-Aikawa E, Farber M, Aikawa M, Schoen FJ (2004) Dynamic and reversible changes of interstitial cell phenotype during remodeling of cardiac valves. (springer.com)
- These data identify a novel endothelial etiology for this common human disease phenotype. (fondationleducq.org)
Single ventricle1
- We have focused on tetralogy of Fallot population and single ventricle heart disease. (stanford.edu)
Loci1
- Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease. (cdc.gov)
Rheumatic4
- Stenotic or partially fused valves caused by inflammatory processes, such as rheumatic fever , are not included in this chapter. (medscape.com)
- Rheumatic heart disease. (librepathology.org)
- 50% of valves with post-rheumatic sclerosis. (librepathology.org)
- Stenotic or partially fused valves caused by inflammatory processes, such as rheumatic fever, are not included. (medscape.com)
Leaflets5
- Furthermore, integration and cross-talk between these pathways generate highly stratified and delicate valve leaflets and septa of the heart. (springer.com)
- The normal aortic valve has three equal-sized leaflets or cusps with three lines of coaptation. (medscape.com)
- The normal right and left aortic leaflets form at the junction of the ventricular and arterial ends of the conotruncal channel. (medscape.com)
- Of the valves without raphes, more than 30% of the leaflets were unequal in size. (medscape.com)
- Elongated leaflets/large valve area. (librepathology.org)
Septa1
- Notch signaling is involved early in the formation of the endocardial cushions and continues to be active as the develop into the septa and valves. (imedpub.com)
Tissue4
- Our goal is to address this need with a tissue engineered heart valve that is capable of remodeling and growth within a growing child. (davislab.org)
- Using this approach, we will generate a 3D tissue engineered heart valve that has the potential to grow and repair in a child. (davislab.org)
- In this review, we summarize the biological function of MG53 with its potential mechanisms in cardiac tissue (Fig. 1 ), discuss current debates regarding the role of MG53 in diabetic cardiomyopathy (Table 1 ), and potential clinical applications of recombinant MG53 protein in the management and treatment of heart diseases (Table 2 ). (biomedcentral.com)
- PAH can be associated with other diseases (APAH: connective tissue diseases, congenital heart disease, and others) but often the etiology is idiopathic (IPAH). (biomedcentral.com)
Insight1
- Currently, there are limited options for treatment of valve disease, and therefore having a better understanding of valve development can contribute critical insight into congenital valve defects and disease. (springer.com)
Incidence2
- Hoffman JI, Kaplan S (2002) The incidence of congenital heart disease. (springer.com)
- PAH can present at any age, but the ~ 3:1 female to male ratio in adult-onset disease is not observed in pediatric-onset disease, in which the disease incidence is similar for males and females. (biomedcentral.com)
Commonly2
- Mitral valve most commonly affected. (librepathology.org)
- Often times, pediatric patients are treated by replacing or less commonly repairing the valve. (davislab.org)
Heart disease6
- Integrated multiomic characterization of congenital heart disease. (cdc.gov)
- Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. (medlineplus.gov)
- Heart disease remains the leading cause of mortality globally, so further investigation is required to identify its underlying mechanisms and potential targets for treatment and prevention. (biomedcentral.com)
- Heart Disease, also known as heart failure, is related to lipoprotein quantitative trait locus and heart valve disease, and has symptoms including angina pectoris, chest pain and edema. (silexon.tech)
- An important gene associated with Heart Disease is NKX2-5 (NK2 Homeobox 5), and among its related pathways/superpathways are Cardiac conduction and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. (silexon.tech)
- My laboratory's overall goal is to (i) understand the mechanisms of right heart failure in children and adults with congenital heart disease and (ii) to develop biomarkers as a plasma signature of myocardial events to better understand the mechanisms of heart failure, improve monitoring of disease progression, early detection of heart failure and risk-stratification. (stanford.edu)
Etiology1
- This patient presented with repeated fever and systemic lymphadenopathy events for more than 2 years, but the etiology of the disease was unclear. (degruyter.com)
Acute2
- Not seen in acute disease and healed endocarditis. (librepathology.org)
- 3) We are defining the properties of cancer stem cells that initiate and sustain the unique disease features of acute leukemias through the use of various adoptive animal models. (stanford.edu)
Defects6
- Congenital heart defects affect approximately 1-5 % of human newborns each year, and of these cardiac defects 20-30 % are due to heart valve abnormalities. (springer.com)
- Recent literature indicates that the key factors and pathways that regulate valve development are also implicated in congenital heart defects and valve disease. (springer.com)
- Most congenital heart defects are not associated with other diseases. (imedpub.com)
- The defects may involve the interior walls of the heart, the heart valves, or the large blood vessels that lead to and from the heart. (imedpub.com)
- Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. (medlineplus.gov)
- Note: If you'd like to get a target analysis report for Congenital Heart Defects , or if you are interested to learn how our AI-powered BDE-Chem can design therapeutic molecules to interact with the target(s) above against the disease of Congenital Heart Defects at a cost 90% lower than traditional approaches, please feel free to contact us at [email protected] . (silexon.tech)
Variant2
- This variant has never been documented in the medical literature and was predicted as being potentially damaging or disease-causing variant. (biomedcentral.com)
- We, for the first time, identified a novel missense variant in the NOTCH1 gene, which appears to be a potential predisposing factor for artery fragility. (biomedcentral.com)
Cusps1
- Free edge - closest to the centre of the valve/interacts with other valve cusps. (librepathology.org)
Pathways2
- Together, these three essential signaling pathways help form the cardiac cushions and populate them with mesenchyme and, consequently, set off the cascade of events required to develop mature heart valves. (springer.com)
- Here, we discuss BMP, TGF-β, and Notch signaling pathways during mouse cardiac cushion formation and how they together produce a coordinated EMT response in the developing mouse valves. (springer.com)