scholarly journals Genetic and epigenetic mechanisms in the development of congenital heart diseases

2021 ◽  
Vol 4 (2) ◽  
pp. e000196
Author(s):  
Yue Wu ◽  
Xiaosi Jin ◽  
Yuhao Zhang ◽  
Jing Zheng ◽  
Rulai Yang
Keyword(s):  
Congenital Heart ◽  
Heart Diseases ◽  
Gene Mutations ◽  
Morbidity And Mortality ◽  
Molecular Medicine ◽  
Epigenetic Mechanisms ◽  
Epigenetic Factors ◽  
Near Future

Congenital heart disease (CHD) is the most common of congenital cardiovascular malformations associated with birth defects, and it results in significant morbidity and mortality worldwide. The classification of CHD is still elusive owing to the complex pathogenesis of CHD. Advances in molecular medicine have revealed the genetic basis of some heart anomalies. Genes associated with CHD might be modulated by various epigenetic factors. Thus, the genetic and epigenetic factors are gradually accepted as important triggers in the pathogenesis of CHD. However, few literatures have comprehensively elaborated the genetic and epigenetic mechanisms of CHD. This review focuses on the etiology of CHD from genetics and epigenetics to discuss the role of these factors in the development of CHD. The interactions between genetic and epigenetic in the pathogenesis of CHD are also elaborated. Chromosome abnormalities and gene mutations in genetics, and DNA methylations, histone modifications and on-coding RNAs in epigenetics are summarized in detail. We hope the summative knowledge of these etiologies may be useful for improved diagnosis and further elucidation of CHD so that morbidity and mortality of children with CHD can be reduced in the near future.

scholarly journals Role of TEE in Improving Diagnostic Accuracy of Congenital Heart Disease

2014 ◽  
Vol 2 (2) ◽  
pp. 68-70
Author(s):  
Sandeep Singh Rana ◽  
Balbir Kumar ◽  
Sethu Madhavan J
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Diagnostic Accuracy ◽  
Multimodal Imaging ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Associated Lesions ◽  
Cardiac Lesions ◽  
Intraoperative Period

ABSTRACT Complex congenital heart diseases (CHD) often present as multiple cardiac lesions. The presence of one anomaly should stimulate the physician to perform a comprehensive assessment and look for other associated anomalies.1 Multimodal imaging may be necessary to diagnose such associated lesions as single imaging may occasionally miss them. Transthoracic echocardiography (TTE) and transesophageal echocardiography (TEE) are complimentary to each other. Routine use of TEE during intraoperative period may help us to refine diagnosis, detect the missing components and guide effective surgical repair. We present one such case where diagnosis and management were optimized by multimodal imaging. How to cite this article Kumar B, Madhavan JS, Puri GD, Rana SS. Role of TEE in Improving Diagnostic Accuracy of Congenital Heart Disease. J Perioper Echocardiogr 2014;2(2):68-70.

Role of Counseling in Fetal Congenital Heart Diseases

2016 ◽  
pp. 23-27
Author(s):  
Maria Giovanna Russo ◽  
Fiorella Fratta ◽  
Beniamino Tormettino ◽  
Nicola Colacurci
Keyword(s):  
Congenital Heart ◽  
Heart Diseases ◽  
Congenital Heart Diseases

scholarly journals A reflection on the role of genetics in the concept of “epileptic encephalopathy”, as emerged from the most recent ILEA classification of epilepsy

2020 ◽  
Vol 46 (1) ◽  
Author(s):  
Angelo Russo ◽  
Giuseppe Gobbi
Keyword(s):  
Gene Mutations ◽  
International Community ◽  
Epileptic Encephalopathy ◽  
Specific Gene ◽  
International League Against Epilepsy ◽  
Epileptic Encephalopathies ◽  
Epilepsy Classification ◽  
International League

AbstractThe International League Against Epilepsy (ILAE) has been working to standardize the epilepsy classifications for over a hundred years.The latest epilepsy classification has been recently carried out with a careful overview on several topics including the “epileptic encephalopathies” concept and several constructive discussions on this topic have taken place in the international community of epileptologists.Here we wish to share our reflection on a statement of the ILAE commission on the “epileptic encephalopathy” concept, which in our opinion pays less attention to the “electroclinical syndromes” concept in favor of the new and very rapid genetic advances, thus generating confusion.Our aim is both to preserve the role of electroclinical syndromes, while allowing for the association of the phenotype with specific gene mutations, and to underline the importance of bringing electroclinical syndromes back to the forefront of epileptology.We believe the “match” is still open and for this reason we would like to share our considerations and to open a constructive debate on the “epileptic encephalopathy” concept.

A LITERATURE REVIEW ON ANALYSIS OF PALM PATTERNS TO DETECT CONGENITAL HEART DISEASES

2020 ◽  
Vol 32 (02) ◽  
pp. 2050012
Author(s):  
Y. Mahesha ◽  
C. Nagaraju
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Congenital Heart Diseases ◽  
Normal People ◽  
Different Types ◽  
Left And Right ◽  
Paper Method

This paper presents the survey on different techniques which can be used to detect congenital heart disease using palm patterns. The congenital heart disease is one of the heart diseases which starts from birth. Research works are carried out towards detecting congenital heart disease before symptom appears using palm patterns so that it avoids critical health problems in future. Researchers have collected palm prints from normal people who are not suffering from any kind of heart disease and from patients who are suffering from different types of congenital heart diseases. These palm prints are collected from different hospitals. The palm prints are taken using ink and paper method. These palm patterns are analyzed to determine the role of palm pattern while detection of the disease. Few researchers have considered only triradius of palm and most of the researchers have considered palm patterns such as whorl, loop, arch and hypothenar pattern. In case of triradius, researchers have calculated position of axial triradius and it is categorized into three types. In case of whorl, loop and arch, they have considered how often they appear in palm of normal people and patients. Few researchers have analyzed both left and right hands of normal people and patients.

scholarly journals Beta-Thalassemia in Iran: New Insight into the Role of Genetic Admixture and Migration

2012 ◽  
Vol 2012 ◽  
pp. 1-7 ◽  
Author(s):  
Ali Reza Rezaee ◽  
Mohammad Mehdi Banoei ◽  
Elham Khalili ◽  
Massoud Houshmand
Keyword(s):  
Globin Gene ◽  
Gene Mutations ◽  
Genetic Admixture ◽  
Beta Thalassemia ◽  
The Caspian Sea ◽  
Genetic Classification ◽  
And Migration ◽  
The Persian Gulf

Iran with an area of 1.648 million km2is located between the Caspian Sea and the Persian Gulf. The Iranian population consists of multiethnic groups that have been influenced by various invasions and migration throughout history. Studies have revealed the presence of more than 47 differentβ-globin gene mutations responsible forβ-Thalassemia in Iran. This paper is an attempt to study the origin ofβ-Thalassemia mutations in different parts of Iran. Distribution ofβ-Thalassemia mutations in Iran shows different patterns in different areas.β-Thalassemia mutations have been a reflection of people and area in correlation with migration and origin of ancestors. We compared the frequencies ofβ-globin mutations in different regions of Iran with those derived from neighboring countries. The analysis provided evidence of complementary information about the genetic admixture and migration of some mutations, as well as the remarkable genetic classification of the Iranian people and ethnic groups.

scholarly journals Classification of Congenital Heart Diseases By SVM-MFCC Using Phonocardiograph

2017 ◽  
Author(s):  
Gholamreza Attarodi ◽  
Asghar Tareh ◽  
Nader Jafarnia Dabanloo ◽  
Ali Adeliansedehi
Keyword(s):  
Congenital Heart ◽  
Heart Diseases ◽  
Congenital Heart Diseases

scholarly journals Defects in the interventricular and atrial septa: the contribution of the transcription factor GATA6 and the signal molecule NOTCH1

2020 ◽  
pp. 64-70
Author(s):  
А.В. Цепокина ◽  
А.В. Понасенко ◽  
Н.С. Деева ◽  
А.В. Шабалдин
Keyword(s):  
Congenital Heart ◽  
Heart Diseases ◽  
Modern Medicine ◽  
Gene Interactions ◽  
Congenital Heart Diseases ◽  
Control Groups ◽  
Signal Molecule ◽  
Exogenous Factors ◽  
And Control

Актуальность: Поиск биологических маркёров, вовлеченных в патогенез врожденных пороков сердца (ВПС), остается актуальным вопросом современной медицины и биологии. Врожденные пороки - мультифакторное заболевание, причинами развития которого является взаимовлияющее действие эндогенных и экзогенных факторов. В настоящее время показана роль генов семейства GATA и NOTCH1 в формировании предрасположенности к развитию врожденных пороков сердца. Материалы и методы: Группу исследования составили 58 детей с диагнозом дефекта межжелудочковой и межпредсердной перегородок, в контрольную группу включены 103 ребенка без данной патологии. Генотипирование проводили полимеразной цепной реакцией в режиме реального времени с использованием TaqMan-зондов. Результаты: Исследование встречаемости генотипов генов GATA6 и NOTCH1 в исследуемой и контрольной группах не показало статистически значимых различий. Однако, анализ межгенных взаимодействий при помощи программы MDR 3.0.2. позволил выделить ряд протективных и рисковых генотипов. Заключение: Несмотря на отсутствие статистически значимых различий по частоте встречаемости генотипов, полученные в ходе анализа межгенных связей сочетания генотипов могут быть связаны с предрасположенностью к развитию ВПС. Background: The search for biological markers involved in the congenital heart diseases pathogenesis remains a topical problem in modern medicine and biology. Congenital heart diseases are a multifactorial disease caused by the mutually affecting effects of endogenous and exogenous factors. Currently, the role of GATA and NOTCH1 gene family in the predisposition to development of congenital heart diseases is shown. Materials and methods: 58 children with a diagnosis of congenital heart diseases (defects in the interventricular and atrial septa) and 103 children without this pathology were included in the study and the control groups, respectively. Genotyping was performed by real-time polymerase chain reaction using TaqMan probes Results: A study of the frequencies of the genotypes in the GATA6 and NOTCH1 genes in the study and control groups showed no statistically significant differences. At the same time, the analysis of gene-gene interactions using MDR 3.0.2 software allows to determine a number of protective and risk genotypes. Conclusion: Despite the absence of significant differences in the frequency of genotypes, combinations of genotypes obtained during the analysis of gene-gene interactions may be associated with a predisposition to the development of congenital heart diseases.

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