scholarly journals First report of polymorphisms in MTRR, GATA4, VEGF, and ISL1 genes in Pakistani children with isolated ventricular septal defects (VSD)

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Sumbal Sarwar ◽  
Farah Ehsan ◽  
Shabana ◽  
Amna Tahir ◽  
Mahrukh Jamil ◽  
...  
Keyword(s):  
Heart Development ◽  
Heart Defects ◽  
Demographic Data ◽  
Gene Variant ◽  
Nucleotide Polymorphisms ◽  
Ventricular Septal Defects ◽  
First Report ◽  
Number Of Children ◽  
Septal Defects ◽  
Genotype Frequencies

Abstract Background Ventricular septal defects (VSDs) are malformations in the septum separating the heart’s ventricles. VSDs may present as a single anomaly (isolated/nonsyndromic VSD) or as part of a group of phenotypes (syndromic VSD). The exact location of the defect is crucial in linking the defect to the underlying genetic cause. The number of children visiting cardiac surgery units is constantly increasing. However, there are no representative data available on the genetics of VSDs in Pakistani children. Methods Two hundred forty-two subjects (121 VSD children and 121 healthy controls) were recruited from pediatric cardiac units of Lahore. The clinical and demographic data of the subjects were collected. A total of four SNPs, one each from MTRR, GATA4, VEGF, and ISL1 genes were genotyped by PCR-RFLP. Results The results showed that the minor allele (T) frequency (MAFs) for the MTRR gene variant rs1532268 (c.524C > T) was 0.20 and 0.41 in the controls and the cases, respectively, with the genotype frequencies 3, 35, 62% in the controls and 12, 59 and 29% in the cases for TT, CT, CC genotypes, respectively (allelic OR: 5.73, CI: 3.82–8.61, p-value: 5.11 × 10− 7). For the GATA4 variant rs104894073 (c.886G > A), the MAF for the controls and the cases was 0.16 and 0.37, respectively, the frequencies of AA, GA and GG genotypes were 2, 28, and 70% in the controls and 5, 64 and 31% of the cases (allelic OR: 3.08, CI: 2.00–4.74, p-value: 8.36 × 10− 8). The rs699947 (c.-2578C > A) of VEGF gene showed MAF 0.36 and 0.53 for the controls and cases, respectively, with the genotype frequencies 13, 42, and 45% in the controls and 22, 15, and 63% in the cases for the AA, CA, CC (allelic OR: 2.03, CI: 1.41–2.92, p-value: 0.0001). The ISL1 gene variant rs6867206 (g.51356860 T > C), the MAFs were 0.26 and 0.31 in the controls and cases, respectively. The genotype frequencies were 48, 52, 0% in the controls and 39, 61, 0% in the cases for TT, TC, CC genotypes (allelic OR: 0.27, CI: 0.85–1.89, p-value: 0.227). The MTRR, GATA4 and VEGF variants showed association while ISL1 variant did not appear to be associated with the VSD in the recruited cohort. Conclusion This first report in Pakistani children demonstrates that single nucleotide polymorphisms in genes encoding transcription factors, signaling molecules and structural heart genes involved in fetal heart development are associated with developmental heart defects., however further work is needed to validate the results of the current investigation.

Turner Syndrome With Unusual Conotruncal Defect

PEDIATRICS ◽  
1993 ◽  
Vol 92 (3) ◽  
pp. 456-457
Author(s):  
LUCA ROSTI ◽  
PIERLUIGI FESTA ◽  
ALESSANDRO FRIGIOLA ◽  
DARIO ROSTI
Keyword(s):  
Turner Syndrome ◽  
X Chromosome ◽  
Heart Defects ◽  
Ovarian Tissue ◽  
Cystic Hygroma ◽  
Ventricular Septal Defects ◽  
Renal Anomalies ◽  
Septal Defects ◽  
High Prevalence ◽  
Left Heart Syndrome

The Turner syndrome is a frequently occurring chromosomal syndrome. It is characterized by X monosomy, mosaicism 45X/46XX, partial deletion of X chromosome, and various rearrangements of X chromosome, leading to several clinical features and congenital anomalies: short stature, webbing of the neck (pterygium colli), nuchal cystic hygroma, hypogonadism, with absent ovarian tissue, and renal anomalies.1 Congenital heart defects occur often in the Turner syndrome1,2; there is a high prevalence of coarctation of the aorta3-5 and bicuspid aortic valve6; ventricular septal defects, atrial septal defects, and hypoplastic left heart syndrome are less frequent.7,8 Conotruncal defects have never been reported, to our knowledge, in patients with the Turner syndrome.

Self- and informant-reported executive function in young adults operated for atrial or ventricular septal defects in childhood

2022 ◽  
pp. 1-8
Author(s):  
Yasmin S. El Dabagh ◽  
Benjamin Asschenfeldt ◽  
Benjamin Kelly ◽  
Lars Evald ◽  
Vibeke E. Hjortdal
Keyword(s):  
Executive Function ◽  
Executive Functions ◽  
Psychiatric Disorders ◽  
Heart Defects ◽  
Executive Dysfunction ◽  
Ventricular Septal Defects ◽  
Educational Levels ◽  
Septal Defects ◽  
Increased Risk ◽  
Behavior Rating Inventory

Abstract Background: Adults with simple congenital heart defects (CHD) have increased risk of neurodevelopmental challenges including executive dysfunction. It is unknown if the executive dysfunction is universal or if it is driven by dysfunction in specific clinical subscales and how it might affect psychosocial aspects of everyday life. Methods: The self-reported and informant-reported executive function of adults with an average age of 26 ± 5 (range 18–41) who underwent childhood surgery for atrial septal defects (n = 34) or ventricular septal defects (n = 32) and matched controls (n = 40) were evaluated using the Behavior Rating Inventory of Executive Functions - Adult version (BRIEF-A). Results: The CHD group reported having more executive dysfunction than controls in all BRIEF-A clinical subscales (p < 0.020) and more than their informants reported on their behalf (p < 0.006). The CHD group had received three times more special teaching (44% compared to 16%) and pedagogical psychological counselling (14% compared to none) and had a three times higher occurrence of psychiatric disorders than controls (33% compared to 11%). Lower educational levels and psychiatric disorders were associated with higher BRIEF-A scores (p < 0.03). Conclusions: Adults operated for septal defects in childhood report more challenges with all aspects of the executive functions than controls and more than relatives are aware of.

Surgical treatment of double outlet right ventricle

1997 ◽  
Vol 7 (1) ◽  
pp. 22-30 ◽  
Author(s):  
V.I. Burakovsky ◽  
V.P. Podzolkov ◽  
A.V. Ivanitsky ◽  
F.R. Ragimov
Keyword(s):  
Heart Failure ◽  
Surgical Treatment ◽  
Left Ventricle ◽  
Surgical Intervention ◽  
Heart Defects ◽  
Double Outlet Right Ventricle ◽  
Ventricular Septal Defects ◽  
Surgical Experience ◽  
Septal Defects ◽  
Mustard Operation

AbstractForm 1980 until January 1991, 76 patients with double outlet ventricle, aged from 1 year 7 months to 23.5 years (mean age 7.5± 5.0 years) underwent surgey at the A.N. Bakoulev Inste for Cardivascular Surgery. Associated heart defects were found in 77.6% patints. In 57 patients (75%), the left ventricle opened into the subaortic infundibulum; into the subpulmonary infudibulum in four (the Tassisg-Bing anomaly) while, in 12 (15.8%), it opened under the outflow tracts of both great arteries. In two cases, (2.6%) there was a mno-committed ventricular septact. In one case (1.3%)a non-committed defect was diagnosed as coexisting with a non-commited defect was dignosed as coexisting with a Taussig-Bing anomaly. There were eight operative deaths (10.9%) among the patients undergoing radical surgery.Another theree patients with the Taussig-Bing anomaly and obstructive pulmomnary vascular disease underwent a successful palliative Mustard operation. All deaths were associated with acute heart failure and were seen only among patiens with subaortic ventricular septal defects. The important factors, which increased the risk of correction and contributed to death were inappropriate pre-operative diagnosis of complex associated defecrs and techmical mistakes during surgical intervention, the latter due to inadequate surgical experience. During the last five years, mortality decreased significatly (one death among 34 patients undergoing surgery from 1986 through January 1991)

Diagnosis of neonatal congenital heart defects by remote consultation using a low-cost telemedicine link

1996 ◽  
Vol 2 (3) ◽  
pp. 165-169 ◽  
Author(s):  
F Casey ◽  
D Brown ◽  
B G Craig ◽  
J Rogers ◽  
H C Mulholland
Keyword(s):  
Congenital Heart ◽  
Heart Defects ◽  
Low Cost ◽  
District General Hospital ◽  
Ultrasound Images ◽  
Ventricular Septal Defects ◽  
Direct Examination ◽  
Remote Consultation ◽  
Paediatric Cardiologist ◽  
Septal Defects

To determine whether telemedicine could assist in the earlier diagnosis of neonates with congenital heart disease (CHD) in an area hospital remote from a paediatric cardiologist, we established a low-cost telemedicine link between the neonatal unit of a district general hospital and the regional paediatric cardiology unit. Realtime ultrasound images of babies suspected of having CHD were obtained by a paediatrician and transmitted for realtime interpretation by a paediatric cardiologist. In a four-month pilot study, 10 neonates were studied in this way. In eight of the ten cases, the diagnosis made over the telemedicine link was confirmed subsequently in a direct examination at the regional unit. In one case the patient died before the direct examination was possible. In one case two small muscular ventricular septal defects were missed on the remote examination. Our early experience suggests that, with realtime guidance by a paediatric cardiologist, transmitted images of sufficient quality to allow confirmation or exclusion of major cardiac defects can be obtained. This form of remote consultation should improve morbidity and mortality rates by reducing the waiting time for specialist diagnosis and treatment.

scholarly journals Cardiac Septal Defects in Children: Hemodynamics, Clinical Manifestations and Detection

2021 ◽  
Vol 5 (4) ◽  
Author(s):  
Ria Nova ◽  
Sukman Tulus Putra ◽  
Siti Nurmaini ◽  
Radiyati Umi Partan
Keyword(s):  
Clinical Examination ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Clinical Manifestations ◽  
Ventricular Septal Defects ◽  
Hemodynamic Changes ◽  
Septal Defects ◽  
Cardiac Septal Defects ◽  
The Right

Cardiac septal defect in children is one of the congenital heart defects characterized by atrial septal defects (ASD), ventricular septal defects (VSD) and defects in both atrial and ventricular septum (AVSD). The hemodynamic changes that occur are caused by a left to the right shunt. Differences in location, size of the defect and pulmonary vascular resistance make hemodynamic differences and clinical manifestations between the three types of cardiac septal defects. Detection of cardiac septal defects can be done by clinical examination by listening to the characteristic heart sounds and murmurs for each defect. However, clinical examination alone is often still difficult to determine the type of cardiac septal defect so that several supporting examinations such as photothorax, ECG, echocardiogram and cardiac catheterization need to be done to help establish the diagnosis.

scholarly journals Congenital Heart Disease in Down Syndrome

1993 ◽  
Vol 14 (12) ◽  
pp. 488-494
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Heart Disease ◽  
Congenital Heart ◽  
Chromosomal Abnormalities ◽  
Heart Defects ◽  
Endocardial Cushion ◽  
Ventricular Septal Defects ◽  
Septal Defects ◽  
Endocardial Cushion Defect

Trisomy 21, Down syndrome, is one of a number of chromosomal abnormalities associated with congenital heart disease. Recent studies indicate that approximately 5% of all congenital heart defects are associated with some form of chromosomal abnormality, the majority of which are Down syndrome. Reports of the incidence of congenital heart disease in patients who have Down syndrome have varied, but it is commonly accepted to be 50%. Endocardial cushion defect and ventricular septal defects both have been reported as the "most common," but the majority of investigators accept the endocardial cushion defect as being the more frequent. The association between endocardial cushion defects and Down syndrome is so striking that when an endocardial cushion defect is diagnosed in an infant, the possibility of Down syndrome always should be considered.

scholarly journals Cardiac Septal Defects in Children: Hemodynamics, Clinical Manifestations and Detection

2021 ◽  
Vol 5 (6) ◽  
pp. 608-613
Author(s):  
Ria Nova ◽  
Sukman Tulus Putra ◽  
Siti Nurmaini ◽  
Radiyati Umi Partan
Keyword(s):  
Clinical Examination ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Clinical Manifestations ◽  
Ventricular Septal Defects ◽  
Hemodynamic Changes ◽  
Septal Defects ◽  
Cardiac Septal Defects ◽  
The Right

Cardiac septal defect in children is one of the congenital heart defects characterized by atrial septal defects (ASD), ventricular septal defects (VSD) and defects in both atrial and ventricular septum (AVSD). The hemodynamic changes that occur are caused by a left to the right shunt. Differences in location, size of the defect and pulmonary vascular resistance make hemodynamic differences and clinical manifestations between the three types of cardiac septal defects. Detection of cardiac septal defects can be done by clinical examination by listening to the characteristic heart sounds and murmurs for each defect. However, clinical examination alone is often still difficult to determine the type of cardiac septal defect so that several supporting examinations such as photothorax, ECG, echocardiogram and cardiac catheterization need to be done to help establish the diagnosis.

scholarly journals Analysis of the dynamics of congenital heart defects in newborns in the territory of the Novosibirsk region for 2015-2019

2020 ◽  
pp. 36-37
Author(s):  
М.А. Васильева
Keyword(s):  
Congenital Malformations ◽  
Congenital Heart ◽  
Heart Defects ◽  
Ventricular Septal Defects ◽  
Transposition Of Great Vessels ◽  
Septal Defects ◽  
Novosibirsk Region ◽  
Infant And Child Mortality ◽  
Great Vessels ◽  
Observation Period

Врожденные пороки сердечно-сосудистой системы (ВПС) выходят на первое место среди причин, приводящих к младенческой и детской смертности, а также инвалидности. По результатам проведённого исследования выявлено, что в структуре врожденных пороков развития 37,3% составляют ВПС. Средний срок выявления ВПР/МВПР методами пренатальной диагностики составил 23,9±2,3 недель беременности. Отмечается рост дефектов межжелудочковой перегородки на 118%, транспозиции магистральных сосудов на 61%, дефектов межпредсердной перегородки на 37% за период наблюдения. В структуре младенческой смертности ВПС составили 35,12%. Congenital malformations of the cardiovascular system (СHD) rank first among the causes leading to infant and child mortality, as well as disability. It was revealed that in the structure of congenital malformations in Novosibirsk region, 37.3% are CHD. The average term for prenatally detecting CHD was 23.9 ± 2.3 weeks of gestation. There was an increase of ventricular septal defects by 118%, transposition of great vessels by 61%, and atrial septal defects by 37% during the observation period. In the structure of infant mortality, CHD accounted for 35.12%.

scholarly journals Coxsackievirus B3 Infection Early in Pregnancy Induces Congenital Heart Defects Through Suppression of Fetal Cardiomyocyte Proliferation

2021 ◽  
Vol 10 (2) ◽  
Author(s):  
Vipul Sharma ◽  
Lisa S. Goessling ◽  
Anoop K. Brar ◽  
Chetanchandra S. Joshi ◽  
Indira U. Mysorekar ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Transforming Growth Factor ◽  
Heart Defects ◽  
Viral Myocarditis ◽  
Cardiomyocyte Proliferation ◽  
Ventricular Septal Defects ◽  
Septal Defects ◽  
Cvb3 Infection ◽  
Viral Titers

Background Coxsackievirus B (CVB) is the most common cause of viral myocarditis. It targets cardiomyocytes through coxsackie and adenovirus receptor, which is highly expressed in the fetal heart. We hypothesized CVB3 can precipitate congenital heart defects when fetal infection occurs during critical window of gestation. Methods and Results We infected C57Bl/6 pregnant mice with CVB3 during time points in early gestation (embryonic day [E] 5, E7, E9, and E11). We used different viral titers to examine possible dose‐response relationship and assessed viral loads in various fetal organs. Provided viral exposure occurred between E7 and E9, we observed characteristic features of ventricular septal defect (33.6%), abnormal myocardial architecture resembling noncompaction (23.5%), and double‐outlet right ventricle (4.4%) among 209 viable fetuses examined. We observed a direct relationship between viral titers and severity of congenital heart defects, with apparent predominance among female fetuses. Infected dams remained healthy; we did not observe any maternal heart or placental injury suggestive of direct viral effects on developing heart as likely cause of congenital heart defects. We examined signaling pathways in CVB3‐exposed hearts using RNA sequencing, Kyoto Encyclopedia of Genes and Genomes enrichment analysis, and immunohistochemistry. Signaling proteins of the Hippo, tight junction, transforming growth factor‐β1, and extracellular matrix proteins were the most highly enriched in CVB3‐infected fetuses with ventricular septal defects. Moreover, cardiomyocyte proliferation was 50% lower in fetuses with ventricular septal defects compared with uninfected controls. Conclusions We conclude prenatal CVB3 infection induces congenital heart defects. Alterations in myocardial proliferate capacity and consequent changes in cardiac architecture and trabeculation appear to account for most of observed phenotypes.

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