Abstract
Congenital heart diseases (CHDs) are recognized as the most common type of birth malformations. Although recent advances in pre- and neonatal diagnosis as well as in surgical procedures have reduced the morbidity and mortality for many CHD, the etiology for CHD remains undefined. In non-syndromic and isolated (without a familial history or a Mendelian inheritance) forms of CHDs, a multifactorial pathogenesis with interplay between inherited and non-inherited causes is recognized. In this paper, we discuss the current knowledge of the potential molecular mechanisms, mediating abnormal cardiac development in non-syndromic and isolated CHD, including mutations in cardiac transcription factors, the role of somatic mutations and epigenetic alterations as well as the influence of gene-environment interactions. In the near future, the advent of high-throughput genomic technologies with the integration of system biology will expand our understanding of isolated, non-syndromic CHDs for their prevention, early diagnosis and therapy.
Keywords: Congenital heart disease, CHD, Genetics, Epigenetics, Environment, Point mutations, Methylation, microRNA.
Graphical Abstract
Current Genomics
Title:Congenital Heart Disease: The Crossroads of Genetics, Epigenetics and Environment
Volume: 15 Issue: 5
Author(s): Cecilia Vecoli, Silvia Pulignani, Ilenia Foffa and Maria Grazia Andreassi
Affiliation:
Keywords: Congenital heart disease, CHD, Genetics, Epigenetics, Environment, Point mutations, Methylation, microRNA.
Abstract: Congenital heart diseases (CHDs) are recognized as the most common type of birth malformations. Although recent advances in pre- and neonatal diagnosis as well as in surgical procedures have reduced the morbidity and mortality for many CHD, the etiology for CHD remains undefined. In non-syndromic and isolated (without a familial history or a Mendelian inheritance) forms of CHDs, a multifactorial pathogenesis with interplay between inherited and non-inherited causes is recognized. In this paper, we discuss the current knowledge of the potential molecular mechanisms, mediating abnormal cardiac development in non-syndromic and isolated CHD, including mutations in cardiac transcription factors, the role of somatic mutations and epigenetic alterations as well as the influence of gene-environment interactions. In the near future, the advent of high-throughput genomic technologies with the integration of system biology will expand our understanding of isolated, non-syndromic CHDs for their prevention, early diagnosis and therapy.
Export Options
About this article
Cite this article as:
Vecoli Cecilia, Pulignani Silvia, Foffa Ilenia and Andreassi Grazia Maria, Congenital Heart Disease: The Crossroads of Genetics, Epigenetics and Environment, Current Genomics 2014; 15 (5) . https://dx.doi.org/10.2174/1389202915666140716175634
DOI https://dx.doi.org/10.2174/1389202915666140716175634 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Current Genomics in Cardiovascular Research
Cardiovascular diseases are the main cause of death in the world, in recent years we have had important advances in the interaction between cardiovascular disease and genomics. In this Research Topic, we intend for researchers to present their results with a focus on basic, translational and clinical investigations associated with ...read more
Deep learning in Single Cell Analysis
The field of biology is undergoing a revolution in our ability to study individual cells at the molecular level, and to integrate data from multiple sources and modalities. This has been made possible by advances in technologies for single-cell sequencing, multi-omics profiling, spatial transcriptomics, and high-throughput imaging, as well as ...read more
New insights on Pediatric Tumors and Associated Cancer Predisposition Syndromes
Because of the broad spectrum of children cancer susceptibility, the diagnosis of cancer risk syndromes in children is rarely used in direct cancer treatment. The field of pediatric cancer genetics and genomics will only continue to expand as a result of increasing use of genetic testing tools. It's possible that ...read more
Related Journals
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
The Anti-Atherogenic Effects of Thiazolidinediones
Current Diabetes Reviews Endocannabinoid Blockade and the Cardiovascular System
Current Drug Therapy The Role of Neopterin in Atherogenesis and Cardiovascular Risk Assessment
Current Medicinal Chemistry Pharmacotherapy of Obesity - Benefit, Bias and Hyperbole
Current Medicinal Chemistry Translational Application of Combining Magnetic Resonance Imaging and Biomechanical Analysis in Carotid Plaque Vulnerability Assessment
Recent Patents on Medical Imaging Newly Diagnosed Dementia and Increased Risk of Hemorrhagic Stroke: A Nationwide Population-based Study
Current Alzheimer Research The Role of Inflammation and Allergy in Acute Coronary Syndromes
Inflammation & Allergy - Drug Targets (Discontinued) The Effect of Statin Therapy on Arterial Stiffness by Measuring Pulse Wave Velocity: A Systematic Review
Current Vascular Pharmacology Sex Hormones, Metabolic Syndrome and Kidney
Current Topics in Medicinal Chemistry Cardiac Monitoring in Patients with Syncope: Making that Elusive Diagnosis
Current Cardiology Reviews Molecularly Imprinted Sol-Gel Materials for Medical Applications
Current Topics in Medicinal Chemistry E-MHK-0103 (Mineraxin™): A Novel Nutraceutical with Biological Properties in Menopausal Conditions
Current Drug Metabolism Atrial Natriuretic Peptide: Structure, Function, and Physiological Effects: A Narrative Review
Current Cardiology Reviews Peroxisome Proliferator-Activated Receptors and the Control of Fatty Acid Oxidation in Cardiac Hypertrophy
Mini-Reviews in Medicinal Chemistry Angiotensin Receptor Blockers in Chronic Heart Failure: Clinical Implications and Molecular Mechanisms
Current Cardiology Reviews MicroRNAs as Potential Therapeutic Agents in the Treatment of Myocardial Infarction
Current Vascular Pharmacology Terminalia arjuna in Cardiovascular Diseases: Making the Transition from Traditional to Modern Medicine in India
Current Pharmaceutical Biotechnology Current & Future Therapies of Erectile Dysfunction in Neurological Disorders
Recent Patents on CNS Drug Discovery (Discontinued) Outcome of Heart Failure with Preserved Ejection Fraction: A Multicentre Spanish Registry
Current Cardiology Reviews The Prevalence of the Classical and Non-Classical Cardiovascular Risk Factors in Multiple Sclerosis Patients
CNS & Neurological Disorders - Drug Targets