scholarly journals Genetics in cardiovascular diseases

2019 ◽  
Vol 13 (3) ◽  
pp. 137-151 ◽  
Author(s):  
Rudy Celeghin ◽  
Gaetano Thiene ◽  
Barbara Bauce ◽  
Cristina Basso ◽  
Kalliopi Pilichou
Keyword(s):  
Genetic Testing ◽  
Cardiovascular Diseases ◽  
Genetic Basis ◽  
Vascular Diseases ◽  
Current Evidence ◽  
Clinical Tool ◽  
Wide Group ◽  
Next Generation Sequencing Ngs ◽  
Probabilistic Nature

Cardiovascular diseases (CVDs) are a wide group of disorders affecting the heart and blood vessels, including coronary artery, valve, pericardial, conduction system, myocardial and vascular diseases, either congenital or acquired, which can be also heritable. The advent of next generation sequencing (NGS) was accompanied by quick advances in understanding the genetic basis of human diseases, prompting translation of genetics to the clinic. Precision medicine is based on these findings and on the role of genetic testing to improve the diagnosis, to identify individuals with previously unrecognized disease and family members at risk of future disease development which require longitudinal follow-up. However, the probabilistic nature of genetic testing and the subjectivity of genetic variants classification weighted on current evidence, making this powerful clinical tool difficult to be applied in precision diagnostics and therapeutics. Here, we reviewed systematically the genetic basis of CVDs with special emphasis on the current role of NGS in clinical diagnosis and risk assessment, underlying the need of multidisciplinary cardio-genetic referral centers.

A Comprehensive View on Cardiovascular Diseases (CVDs): Genetics, Risk Factors & Preventions

2021 ◽  
Vol 5 (1) ◽  
pp. 38-61
Author(s):  
Saaim Asif ◽  
Maaz Khan ◽  
Muhammad Waqar Arshad
Keyword(s):  
Risk Factors ◽  
Cardiovascular Diseases ◽  
Healthy Lifestyle ◽  
Saturated Fat ◽  
Vascular Diseases ◽  
Model Organisms ◽  
Balanced Diet ◽  
Diet And Exercise ◽  
Healthy Lifestyle Interventions

Cardiovascular Diseases (CVDs) are one of the foremost causes of deaths across the world. This review aims to evaluate the genetics and risk factors involved in CVDs and to assess the preventive measures which can be taken for diminishing the chances of developing CVDs. The goal of this review is to provide researchers and clinicians dealing with vascular disorders with a compendium of data about the genetic causes, risk factors, and preventive strategies to combat the development of CVDs. We searched online databases including PubMed for peer-reviewed scientific papers, case studies and review articles related to CVDs, emphasizing on the role of genetics and risk factors like diabetes, hypertension, smoking, alcohol consumption, obesity, age & gender in the progression of CVDs, and reviewing the role of diet and exercise in the prevention of CVDs. Managing the risk factors involved in CVDs is the most essential step for the inhibition of vascular diseases. Healthy lifestyle interventions consisting of a well-balanced diet and physical activity are very critical for the prevention of CVDs. Trials carried out on model organisms have indicated a direct link between diet and exercise on cardiovascular conditions. Strategies involved in the treatment of vascular diseases should also include low-fat diet plans like consumption of whole grains, fruits, vegetables, yogurts and avoiding high-saturated fat-containing foods with the addition of performing moderate aerobic exercises including cycling, swimming, hiking, and running to eliminate the root of the problem.

DEFICIENCY OF LRBA: BIBLIOGRAPHICAL REVIEW AND CASE REPORT

2021 ◽  
Vol 100 (2) ◽  
pp. 192-203
Author(s):  
I.V. Kondratenko ◽  
◽  
S.S. Vakhlayrskaya ◽  
D.V. Rogozhin ◽  
◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Basis ◽  
Clinical Manifestations ◽  
Main Role ◽  
Principles Of Treatment ◽  
The Subject ◽  
Next Generation Sequencing Ngs ◽  
Lrba Deficiency ◽  
Generation Sequencing

Since the description of the first primary immunodeficiencies (PIDs) in the 50–60s of the last century, they have been the subject of intensive research aimed at elucidating their etiology and finding effective treatments. The development of next-generation sequencing (NGS) methods made it possible to reveal the genetic basis of many new forms of PID, which were previously attributed to various syndromes due to their clinical and immunological characteristics. An example of such a PID is the LRBA (the lipopolysaccharide-responsive and beige-like anchor protein) deficiency, sometimes called LATAIE [LRBA deficiency with autoantibodies, regulatory T (Treg) cell defects, autoimmune infiltration, and enteropathy]. The article provides information on the main role of the LRBA molecule in the functions of immunocompetent cells, describes immunological disorders and clinical manifestations of LRBA deficiency and the principles of treatment of diseases. Two own observations of LRBA deficiency are presented.

Monocyte function and trafficking in cardiovascular disease

2012 ◽  
Vol 108 (11) ◽  
pp. 804-811 ◽  
Author(s):  
Evangelia Pardali ◽  
Johannes Waltenberger
Keyword(s):  
Cardiovascular Diseases ◽  
Tissue Repair ◽  
Vascular Diseases ◽  
Immune Defense ◽  
Injury Repair ◽  
Disease Marker ◽  
Pathological Conditions ◽  
Repair Mechanisms ◽  
Cardio Vascular

SummaryMonocytes are key effectors of the immune homeostasis and play a crucial role in (vascular) injury repair. Despite their role in immune defense and tissue repair mechanisms, monocytes are also involved in several pathological conditions such as autoimmune and cardiovascular diseases as well as cancer. This suggests that monocytes can be used as diagnostic and as therapeutic targets. A better understanding and characterisation of monocytes and their function in both physiological and pathological situations is thus of great interest. This review focuses on recent advances on the role of monocytes in cardiovascular diseases and describes the value of monocytes as either disease marker or therapeutic target for (cardio)vascular diseases.

Beneficial Role of Tetrahydrobiopterin on Various Cardiovascular Diseases and Regulation of its Levels under Pathological Conditions

Pteridines ◽  
2006 ◽  
Vol 17 (1) ◽  
pp. 5-10
Author(s):  
Shunichi Shimizu ◽  
Masakazu Ishii ◽  
Teruaki Wajima ◽  
Tamio Hagiwara ◽  
Takaharu Negoro
Keyword(s):  
Oxidative Stress ◽  
Nitric Oxide ◽  
Cardiovascular Diseases ◽  
Reperfusion Injury ◽  
Vascular Endothelial Cells ◽  
Ischemia Reperfusion ◽  
Vascular Diseases ◽  
Common Mechanism ◽  
Pathological Conditions

Abstract 5,6,7,8-Tetrahydrobiopterin (BH4) is an csscntial cofactor for production of nitric oxide (NO) by N O synthase (NOS). Nitric oxide (NO) is an important signaling mo!ecu!e for the regulation o f vita! functions such as vascular tone, neurotransmission and immune surveiüance. Accumu!ated evidences show that although NOS mainly re!eases N O under nonnal conditions, NOS also produces Superoxide anion and hydrogen peroxide when BH4 is decreased, suggesting the possibility that NOS is a source of reactive oxygen species (ROS) under pathological conditions. In fact, supplementation of BH4 restores N O production and availability in various diseases including hyperlipidemia, diabetes, hypertension and ischemia-reperfusion. Moreover, recent studies show that administration o f BH4 protects tissues against ischemia-reperfusion injuiy in heart, stomach and liver. Oxidative stress is a common mechanism underlying the development of vascular diseases and reperfusion injury. Regulation of BH4 levels under oxidative stress is important to understand the role of BH4 on the development of vascular diseases and reperfusion injury. We recently described that oxidative stress transiently decreased BH4 levels, and then markedly increased its levels in vascular endothelial cells. Supplementation of BH4 appears to be important therapeutic strategies in vascular diseases and reperfusion injury, and induction of BH4 synthesis may endogenous defense system against oxidative stress-mediated cardiovascular diseases.

Evaluating the survivor or the relatives of those who do not survive: the role of genetic testing

2017 ◽  
Vol 27 (S1) ◽  
pp. S19-S24 ◽  
Author(s):  
David J. Tester ◽  
Michael J. Ackerman
Keyword(s):  
Genetic Testing ◽  
Genetic Basis ◽  
Genetic Disorders ◽  
Genomic Medicine ◽  
Mendelian Inheritance ◽  
Societal Implications ◽  
Clinical Genetic ◽  
Clinical Genetic Testing ◽  
Specific Impact

AbstractThe molecular millennium has bestowed clinicians and researchers with the essential tools to identify the underlying genetic substrates for thousands of genetic disorders, most of which are rare and follow Mendelian inheritance patterns. The genetic basis of potentially lethal and heritable cardiomyopathies and cardiac channelopathies has been identified and are now better understood. Genetic testing for several of these heritable conditions has made its transition from discovery through translation and have been commercially available clinical tests for over a decade. Now that clinical genetic testing is available more readily and delivers a disease-specific impact across the triad of medicine – diagnostic, prognostic, and therapeutic – it is important for the community of cardiologists to not only be familiar with the language of genomic medicine but to also be wiser users and even wiser interpreters of genetic testing so that wise decisions can be rendered for those patients and their families being evaluated with respect to the presence or absence of one of these potentially lethal yet highly treatable genetic disorders. The purpose of this review is to provide the reader with a foundational understanding of genetic testing in clinical cardiology. Here, we will present some benefits of genetic testing: indications for either post-mortem genetic testing for the major cardiomyopathies and channelopathies or pre-mortem genetic testing among the decedent’s surviving relatives; the need for careful interpretation of genetic testing results; the importance of genetic counselling; and some points on the ethical and societal implications of genetic testing.

scholarly journals The Emerging Role of BDNF/TrkB Signaling in Cardiovascular Diseases

Life ◽  
2021 ◽  
Vol 11 (1) ◽  
pp. 70
Author(s):  
Peng-Zhou Hang ◽  
Hua Zhu ◽  
Pei-Feng Li ◽  
Jie Liu ◽  
Feng-Qin Ge ◽  
...  
Keyword(s):  
Cardiovascular Diseases ◽  
Metabolic Diseases ◽  
Current Evidence ◽  
Downstream Signaling ◽  
Diagnosis And Prognosis ◽  
Potential Biomarker ◽  
The Central Nervous System ◽  
Artery Disease ◽  
Novel Therapeutic Strategies

Brain-derived neurotrophic factor (BDNF) is one of the most abundant neurotrophins in the central nervous system. Numerous studies suggest that BDNF has extensive roles by binding to its specific receptor, tropomyosin-related kinase receptor B (TrkB), and thereby triggering downstream signaling pathways. Recently, growing evidence highlights that the BDNF/TrkB pathway is expressed in the cardiovascular system and closely associated with the development and outcome of cardiovascular diseases (CVD), including coronary artery disease, heart failure, cardiomyopathy, hypertension, and metabolic diseases. Furthermore, circulating BDNF has also been revealed as a new potential biomarker for both diagnosis and prognosis of CVD. In this review, we discuss the current evidence of the emerging role of BDNF/TrkB signaling and address the challenges that remain in translating these discoveries to novel therapeutic strategies for CVD.

scholarly journals Nitric oxide role in pathogenesis and treatment of cardio-vascular diseases (literature review)

2021 ◽  
Vol 25 (2(98)) ◽  
pp. 130-134
Author(s):  
S. Biletskyi
Keyword(s):  
Nitric Oxide ◽  
Heart Disease ◽  
Essential Hypertension ◽  
Cardiovascular Diseases ◽  
Vascular Diseases ◽  
No Donors ◽  
Comprehensive Therapy ◽  
Nitric Oxide Deficiency ◽  
Cardio Vascular

Literature data concerning the role of endothelium and nitric oxide in the pathogenesis of cardiovascular diseases, administration of L-arginine as a part of a comprehensive therapy of patients suffering from essential hypertension (EH) and ischemic heart disease (IHD) are cited.Objective: to systematize current literature data concerning the role of endothelium and nitric oxide in the pathogenesis of cardiovascular diseases, clinical experience of L-arginine administration in patients with EH and IHD. Conclusion. Nowadays endothelial dysfunction conception is defined with insufficient production of nitric oxide as a central part of EH and IHD pathogenesis. Nitric oxide deficiency occurring with cardiovascular diseases can be compensated by means of NO donors.

scholarly journals Helicobacter pylori and Cardiovascular Diseases

2020 ◽  
Vol 20 (1) ◽  
pp. 4-10
Author(s):  
Ju Yup Lee
Keyword(s):  
Helicobacter Pylori ◽  
Cardiovascular Diseases ◽  
Vascular Diseases ◽  
Cerebrovascular Diseases ◽  
Endothelial Damage ◽  
Coagulation Cascade ◽  
Indirect Association ◽  
Chronic Activation ◽  
H Pylori

Since its discovery, <i>Helicobacter pylori</i> (<i>H. pylori</i>) has played a central role in the pathogenesis of gastroduodenal diseases. Additionally, there have been many studies that demonstrated the role of <i>H. pylori</i> infection in extragastric diseases. Many research studies have confirmed an indirect association between the prevalence of <i>H. pylori</i> infection and the occurrence of cardiovascular diseases (CVDs); however, the results are still conflicting. Most studies found that the involvement of <i>H. pylori</i> in this process was related to the chronic inflammation. This inflammation may facilitate the development of CVD-related atherosclerotic pathologies such as endothelial damage and chronic activation of coagulation cascade, etc. Furthermore, <i>H. pylori</i> infection is known to be associated with other vascular diseases such as cerebrovascular diseases and cardiac arrhythmias, especially atrial fibrillation. This review summarized the literature on the association of cardiovascular manifestations and <i>H. pylori</i> infection and provided information about the pathogenesis of this association.

scholarly journals The Heart of the Alzheimer's: A Mindful View of Heart Disease

2021 ◽  
Vol 11 ◽  
Author(s):  
Alessandro Evangelisti ◽  
Helen Butler ◽  
Federica del Monte
Keyword(s):  
Heart Disease ◽  
Cardiovascular Diseases ◽  
Cellular Response ◽  
Protein Quality ◽  
Current Knowledge ◽  
Current Evidence ◽  
Protein Accumulation ◽  
Primary Role ◽  
The Brain

Purpose of Review: This review summarizes the current evidence for the involvement of proteotoxicity and protein quality control systems defects in diseases of the central nervous and cardiovascular systems. Specifically, it presents the commonalities between the pathophysiology of protein misfolding diseases in the heart and the brain.Recent Findings: The involvement of protein homeostasis dysfunction has been for long time investigated and accepted as one of the leading pathophysiological causes of neurodegenerative diseases. In cardiovascular diseases instead the mechanistic focus had been on the primary role of Ca2+ dishomeostasis, myofilament dysfunction as well as extracellular fibrosis, whereas no attention was given to misfolding of proteins as a pathogenetic mechanism. Instead, in the recent years, several contributions have shown protein aggregates in failing hearts similar to the ones found in the brain and increasing evidence have highlighted the crucial importance that proteotoxicity exerts via pre-amyloidogenic species in cardiovascular diseases as well as the prominent role of the cellular response to misfolded protein accumulation. As a result, proteotoxicity, unfolding protein response (UPR), and ubiquitin-proteasome system (UPS) have recently been investigated as potential key pathogenic pathways and therapeutic targets for heart disease.Summary: Overall, the current knowledge summarized in this review describes how the misfolding process in the brain parallels in the heart. Understanding the folding and unfolding mechanisms involved early through studies in the heart will provide new knowledge for neurodegenerative proteinopathies and may prepare the stage for targeted and personalized interventions.

scholarly journals Role of Vitamin D in Cardiovascular Diseases

Endocrines ◽  
2021 ◽  
Vol 2 (4) ◽  
pp. 417-426
Author(s):  
Valentino Condoleo ◽  
Corrado Pelaia ◽  
Giuseppe Armentaro ◽  
Giandomenico Severini ◽  
Elvira Clausi ◽  
...  
Keyword(s):  
Vitamin D ◽  
Cardiovascular Diseases ◽  
Target Genes ◽  
Randomized Clinical Trials ◽  
Active Form ◽  
Clinical Manifestations ◽  
Hypovitaminosis D ◽  
Current Evidence ◽  
Vitamin D Metabolism

Vitamin D represents a group of secosteroids involved in the calcium and phosphate metabolism. The active form of vitamin D, 1,25-dihydroxylcalciferol, exerts its biological mechanisms via the VDR (vitamin D receptor) which acts as a regulator of several target genes. Hypovitaminosis D is associated with many diseases, which are not only limited to the metabolism of the skeleton, but growing evidence links the deficit of vitamin D to cardiovascular, metabolic, immune, and neoplastic diseases. In regard to the cardiovascular system, current evidence shows the presence of VDR in endothelial cells. Moreover, both in vitro and animal experimental models demonstrated that the deficit of vitamin D can promote endothelial dysfunction and atherosclerosis development. Vitamin D can interfere with vascular functions also by affecting the production of vasodilator mediators. VDR is also expressed in left ventricle cardiomyocytes, and hypovitaminosis D can relate to cardiac hypertrophy and heart failure. Randomized clinical trials (RCT) designed to prove the therapeutic role of vitamin D supplementation have been inconclusive to date. The aim of this review is to highlight the main interactions between vitamin D metabolism and cardiovascular diseases; thus, focusing on pathogenic mechanisms and related clinical manifestations.

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