scholarly journals Genetic study in congenital heart defects

2019 ◽  
Vol 7 (5) ◽  
pp. 1696
Author(s):  
Syed Abir Hussain ◽  
Nasir U din Wani ◽  
Tasneem Muzaffar ◽  
Abdul Majeed Dar ◽  
Mohammad Akbar Bhat ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Cardiac Tissue ◽  
Sex Chromosome ◽  
Heart Diseases ◽  
Heart Defects ◽  
Sex Linkage ◽  
Mutation Site

Background: Congenital heart diseases (CHD) are relatively common with a prevalence ranging from 3.7 to 17.5 per 1000 live births. Little is known about genetic link with respect to congenital heart disease. Iroquoise (Irx) homeobox genes have been widely studied and their expression in both developing and adult heart. Author tried to study the role of irx4 and irx5 genes in structural congenital heart disease, keeping the focus on study reported by Cheng Z et al.Methods: Author studied reported mutation site sequences in 25 various congenital heart disease patients and control healthy relatives of patients. It is a unique study and there has not been such a study reported in literature till date. Besides comparison with healthy related controls, author took cardiac tissue biopsy in patients while doing corrective cardiac surgery. However, blood samples were taken from controls due to ease of feasibility.Results: Although, there were no sequence variations in the studied exon regions, but author got a base pair sequence change at 6 bp intron region, which is near the exon splice site in irx4 gene. Besides two ASD patient’s male children (one child each) had ASD prompting us to believe some role of sex linkage. However later needs pedigree analysis and sex chromosome studies for further analysis.Conclusions: Gene sequence in the Kashmiri population is unique. There is possibility of role of irx genes in CHD. ASD might have sex linkage in some.

scholarly journals POSTTRANSCRIPTIONAL REGULATION IN CONGENITAL HEART DISEASE: THE ROLE OF miRNA

2019 ◽  
Vol 8 (3) ◽  
pp. 85-95
Author(s):  
A. V. Ponasenko ◽  
A. V. Tsepokina
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart Defects ◽  
Posttranscriptional Regulation ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Ecological Factors ◽  
Fetal Abnormality

Congenital heart disease is the most common fetal abnormality resulting in high pediatric disability and mortality. Congenital heart disease is a heterogeneous group of cardiac abnormalities including atrial septal defect, valvular defects and cardiac outflow tract anomalies. Genetic, epigenetic and ecological factors leading to the development of congenital heart defects in each particular case remain poorly understood. Nevertheless, multifactorial and polygenic mechanisms underlying the disease may be suggested. Moreover, advanced genetic technologies including single nucleotide polymorphism testing, copy number variation and next-generation sequencing ensure early detection of genetic causes of heart abnormalities. Recent studies suggested the contributing role of small non-coding RNA (miRNA) in the pathogenesis of congenital heart defects. miRNA is known to coordinate the development of heart and stimulate such pathological processes like fibrosis, hypertrophy and impaired angiogenesis. Thus, the study of miRNA and its impact on the pathogenesis of various heart diseases has demonstrated its promising potential for therapeutic targets in regenerative medicine. The review presents recent genetic findings, miRNA functions, signaling pathways and evidences on its role in the development of certain congenital heart defects.

scholarly journals Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns

2021 ◽  
Vol 11 (6) ◽  
pp. 562
Author(s):  
Olga María Diz ◽  
Rocio Toro ◽  
Sergi Cesar ◽  
Olga Gomez ◽  
Georgia Sarquella-Brugada ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart Defects ◽  
Congenital Malformations ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Genetic Diagnosis ◽  
Single Nucleotide Variants ◽  
Personalized Approach

Congenital heart disease is a group of pathologies characterized by structural malformations of the heart or great vessels. These alterations occur during the embryonic period and are the most frequently observed severe congenital malformations, the main cause of neonatal mortality due to malformation, and the second most frequent congenital malformations overall after malformations of the central nervous system. The severity of different types of congenital heart disease varies depending on the combination of associated anatomical defects. The causes of these malformations are usually considered multifactorial, but genetic variants play a key role. Currently, use of high-throughput genetic technologies allows identification of pathogenic aneuploidies, deletions/duplications of large segments, as well as rare single nucleotide variants. The high incidence of congenital heart disease as well as the associated complications makes it necessary to establish a diagnosis as early as possible to adopt the most appropriate measures in a personalized approach. In this review, we provide an exhaustive update of the genetic bases of the most frequent congenital heart diseases as well as other syndromes associated with congenital heart defects, and how genetic data can be translated to clinical practice in a personalized approach.

scholarly journals Prevalence and profile of congenital heart disease and pulmonary hypertension in Down syndrome in a pediatric cardiology service

2014 ◽  
Vol 32 (2) ◽  
pp. 159-163 ◽  
Author(s):  
Felipe Alves Mourato ◽  
Lúcia Roberta R. Villachan ◽  
Sandra da Silva Mattos
Keyword(s):  
Congenital Heart Disease ◽  
Pulmonary Hypertension ◽  
Down Syndrome ◽  
Heart Disease ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Diseases ◽  
Heart Defects ◽  
Descriptive Analysis ◽  
Atrioventricular Septal Defect

OBJECTIVE:To determine the frequence and profile of congenital heart defects in Down syndrome patients referred to a pediatric cardiologic center, considering the age of referral, gender, type of heart disease diagnosed by transthoracic echocardiography and its association with pulmonary hypertension at the initial diagnosis.METHODS:Cross-sectional study with retrospective data collection of 138 patients with Down syndrome from a total of 17,873 records. Descriptive analysis of the data was performed, using Epi-Info version 7.RESULTS: Among the 138 patients with Down syndrome, females prevailed (56.1%) and 112 (81.2%) were diagnosed with congenital heart disease. The most common lesion was ostium secundum atrial septal defect, present in 51.8%, followed by atrioventricular septal defect, in 46.4%. Ventricular septal defects were present in 27.7%, while tetralogy of Fallot represented 6.3% of the cases. Other cardiac malformations corresponded to 12.5%. Pulmonary hypertension was associated with 37.5% of the heart diseases. Only 35.5% of the patients were referred before six months of age.CONCLUSIONS: The low percentage of referral until six months of age highlights the need for a better tracking of patients with Down syndrome in the context of congenital heart disease, due to the high frequency and progression of pulmonary hypertension.

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.

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 Co-existence of Ventricular Septal Defect and Bronchial Asthma in Two Nigerian Children

2010 ◽  
Vol 3 ◽  
pp. CCRep.S4584 ◽  
Author(s):  
F. Bode-Thomas ◽  
IH. Hyacinth ◽  
CS. Yilgwan
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Ventricular Septal Defect ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Diseases ◽  
Congenital Heart Diseases ◽  
Nigerian Children ◽  
Airway Diseases

Congenital heart diseases (CHD) often present with recurrent or chronic breathing difficulties, as do chronic airway diseases such as asthma. Both are relatively common, and may sometimes co-exist. However, there is a paucity of literature from developing countries to that effect. We present two children diagnosed with ventricular septal defect, later also found to have clinical features consistent with co-existing asthma. We highlight the diagnostic challenges we encountered as well as the crucial role of a careful family respiratory history in children with congenital heart disease.

scholarly journals The diagnostic and prognostic role of amino-terminal pro-brain type natriuretic peptides in pediatric cardiac diseases and pulmonary hypertension

2021 ◽  
Vol 5 (Volume 1) ◽  
pp. 21
Author(s):  
Kayirnisa Tilemanbetova ◽  
Taalaibek Kudaiberdiev ◽  
Jalil Sheishenov ◽  
Damirbek Abibillaev
Keyword(s):  
Congenital Heart Disease ◽  
Pulmonary Hypertension ◽  
Heart Disease ◽  
Natriuretic Peptide ◽  
Congenital Heart ◽  
Pediatric Patients ◽  
Heart Diseases ◽  
Congenital Heart Diseases ◽  
Amino Terminal

Objective: Several studies showed that N-terminal pro-brain type natriuretic peptide (NT-pro-BNP) as the reliable marker both in diagnostic and prognostic workup of pediatric patients with congenital heart disease complicated by pulmonary hypertension. Furthermore, it has well assisted both in therapeutic and surgical management of children with congenital heart diseases. In this review, we aimed to analyze recent studies concerning the role of the NT-pro-BNP in pediatric cardiac patients with pulmonary hypertension. Methods: PubMed, Cochrane, Science Direct and Google Scholar databases were used with the searching of the following words: “amino terminal pro brain type natriuretic peptide”, “pediatric pulmonary hypertension”, “congenital heart diseases”, emphasizing on original research articles published within recent 15 years and in English language. We critically analyzed and summarized the retrieved studies. Conclusion: NT-pro-BNP remains as the reliable diagnostic and prognostic marker of pulmonary hypertension and congenital heart diseases in pediatric patients. NT-pro-BNP and BNP remain as the universal marker of cardiovascular pathology in pediatric population. Improvement of their effectiveness in diagnostic workup in patients with CHD and PH undergoing surgery needs further clarification. Key words: pediatric pulmonary hypertension, N-terminal pro brain type natriuretic peptide, congenital heart disease

scholarly journals Primary detection of congenital heart diseases in the Kyrgyz Republic

2018 ◽  
Vol 2 (Issue 2) ◽  
pp. 56 ◽  
Author(s):  
Irina Akhmedova ◽  
Gulzada Imanalieva ◽  
Damirbek Abibillaev ◽  
Taalaibek Kudaiberdiev
Keyword(s):  
Congenital Heart Disease ◽  
Cardiac Surgery ◽  
Heart Disease ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Delayed Diagnosis ◽  
Congenital Heart Diseases ◽  
Kyrgyz Republic ◽  
Surgery Center

Objective: The aim of this paper is to understand the structure of congenital heart diseases (CHD) and the age of the first diagnosis in a population referred to specialized cardiac surgery center from different regions of Kyrgyz Republic. Methods: In 2017, 7213 people of different ages, from Kyrgyz Republic were examined by using transthoracic echocardiogram at cardiac surgery center aimed to detection of congenital heart disease Results: In total, 478 new patients with primary diagnosis of CHD were identified; 413 (86%) patients had a delayed diagnosis. The total detectability was 6.75%. The structure of congenital heart disease has a large difference depending on the age group. The proportion of complex heart defects predominates in newborn children and significantly decreases with age. Conclusion: A study of the prevalence and structure of heart defects in the country will help to find the right decision in planned care for patients with CHD, in cases of limited resources. Keywords: newborn, congenital heart defects, diagnostics, prevalence, echocardiography

Outcome of pregnancy in women with congenital heart disease

1999 ◽  
Vol 9 (1) ◽  
pp. 88-96 ◽  
Author(s):  
A. A. Schmaltz ◽  
U. Neudorf ◽  
U. H. Winkler
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Single Gene ◽  
Hormonal Contraception ◽  
High Rate ◽  
Premature Delivery ◽  
Thromboembolic Complications

AbstractImprovements in diagnosis and surgical technique for correction have led to an increasing number of women with congenital heart disease reaching the child-bearing age. Pregnancy places considerable strain on the heart and circulation and necessitates marked cardiorespiratory adaptation. Today, with the exception of the Eisenmenger syndrome, there is no increased mortality associated with pregnancy in congenital heart disease. In contrast, there is still considerable morbidity, due to congestive heart failure, thromboembolic complications and disturbances of rhythm.Fetal outcome is complicated by a high rate of spontaneous abortions (20–25%), retardation of fetal growth, and premature delivery (almost 100% in cyanotic mothers). Based on an extensive review of the literature, we discuss the specific risks in pregnancy depending on the hemodynamic situations produced by different heart defects. We also discuss the risks and advantages of different regimens for anticoagulation.Counselling concerning contraception is frequently inadequate. The most important problems are thromboembolic complications with the use of hormonal contraception, and hyper- and dysmenorrhea in those using intrauterine devices. Finally, the genetic risks must be considered, differentiating between single gene defects and the sex of the parents suffering from congenital heart diseases.

scholarly journals Spectrum of congenital heart disease in neonates in a tertiary care centre of Northern India

2018 ◽  
Vol 5 (4) ◽  
pp. 1505
Author(s):  
Mahvish Qazi ◽  
Najmus Saqib
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Cleft Lip ◽  
Heart Diseases ◽  
Heart Defects ◽  
Tertiary Care ◽  
Mode Of Delivery ◽  
Tertiary Care Centre

Background: Congenital heart defects (CHDs) are an important cause of mortality and morbidity in children representing a major global health burden. Not much of Indian data is available particularly from this part of the country. So, authors conduct a retrospective study to know the spectrum of congenital heart disease in our set up.Methods: A retrospective hospital based study was carried out in the neonatal intensive care unit of SMGS Hospital, Jammu from January 2017 until December 2017 to see the spectrum of CHD.Results: There were 5552 neonates admitted during the study period out of which 68 were found to have CHD. The prevalence was 12.24 per 1000 admitted neonates. Out of 68 admitted neonates, 41were males (60.3 %) and 27 females (39.7%). Clinically Respiratory distress (51.47%) was the commonest presenting symptom followed by Cyanosis (16.18%), refusal of feed (13.23%) and murmer (10.3%).46 (67.65%) newborn had acyanotic and 22 (32.35%) cyanotic congenital heart lesions. Ventricular septal defect (27.94%) was the commonest acyanotic congenital heart defects whereas Tetrology of Fallot (14.70%) was the commonest cyanotic congenital heart diseases. Cleft lip and Cleft Palate was found in 12.5% followed by Down’s syndrome in 3.57% of cases of newborns with CHD. The mode of delivery was spontaneous in 64.71% followed by Elective LSCS were 23.53% and Emergency LSCS were 11.76%.Conclusions: There is an urgent need for government and non‑government organizations to establish well‑equipped cardiothoracic surgical centers across the country especially in Jammu to cater for children with CHDs.

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