Trends in the Prevalence of Atrial Septal Defect and Its Associated Factors among Congenital Heart Disease Patients in Vietnam

Tuan, Ho Xuan; Kien, Vu Duy; Cường, Lê Mạnh; Sơn, Nguyễn Văn; Dalla‐Pozza, Robert

doi:10.3390/jcdd7010002

Cited by 7 publications

(5 citation statements)

References 29 publications

(38 reference statements)

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“…The most common CHDs diagnosed were VSD (31%), which is similar to reported cases in other countries [ 19 , 20 ]. ASD was the second most common CHD (23%), which is similar to a study by Xuan et al [ 21 ]. It was also the most common form of CHD which is frequently missed during childhood.…”

Section: Discussionsupporting

confidence: 89%

Clinical and Echocardiographic Profile of Congenital Heart Diseases in the 0-12-Year Age Group in a Tertiary Care Medical Institute in Eastern India: A Retrospective, Cross-Sectional Study

Kishore¹,

Kumar²,

Kumar³

et al. 2022

Cureus

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Background This study aimed to determine the clinical and echocardiography profile of congenital heart diseases (CHDs) among admitted children as well as patients presenting to the outpatient department of the Indira Gandhi Institute of Medical Sciences, Patna, which is a tertiary care and apex institute located in Bihar, India. Methodology A retrospective, cross-sectional study was conducted in a tertiary care hospital from January 2019 to January 2021. In total, 200 patients aged 0-12 were enrolled in the study. The study design was exploratory, with a proforma drafted to study patients with features suggestive of CHDs. All pediatric echocardiography was performed by a trained cardiologist. Records were obtained from the departmental record-keeping register, and reports were available for analyzing the data. For data collection, cardiology and pediatric department registers were reviewed and all CHD data were collected. Data analysis was done using SPSS software version 25.0 (IBM Corp., Armonk, NY, USA). Results Of the 200 children with CHDs, 142 were diagnosed to have acyanotic heart disease (ACHD), while 58 had cyanotic congenital heart disease (CCHD). Among 200 cases of CHD, ventricular septal defect (VSD) constituted 62 cases comprising 31% of the total CHD cases and 44% of all ACHD cases. Atrial septal defect (ASD) was the second most common CHD comprising 23% of all CHD cases. Tetralogy of Fallot (TOF) constituted 23 cases accounting for 11.5% of all CHD cases. It was the most common CCHD. Based on the age at the time of presentation, 90 (45%) cases were diagnosed below one year of age. Congestive heart failure (CHF) was most common in ACHD comprising 30% compared to CCHD in which only 7% of cases had CHF. This finding was statistically significant (p < 0.05). Analyzing the symptoms of different CHDs, of both ACHDs and CCHDs, the common symptoms were fast breathing (38%). Conclusions Among ACHD patients, 31% VSD and 21% ASD were noted. In CCHD, TOF was the most common with 11.5% of cases. Respiratory tract conditions were the most common comorbidities encountered. Because this is one of the first studies conducted in Bihar in the pediatric age group, it can help know the prevalence of CHDs in this region and will be useful for developing policies by stakeholders.

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Section: Discussionsupporting

confidence: 89%

Clinical and Echocardiographic Profile of Congenital Heart Diseases in the 0-12-Year Age Group in a Tertiary Care Medical Institute in Eastern India: A Retrospective, Cross-Sectional Study

Kishore¹,

Kumar²,

Kumar³

et al. 2022

Cureus

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“…It was suggested that birth weights less than 2500 g, screening at 0–3 months and neonates with asphyxia or hypoxia had a diagnostic risk factor for ASD [17] , [18] . Individuals aged 10–40 years and females had a high risk of ASD compared to males aged 0–9 years [19] . Amongst the molecular factors, the genotype of the MTHFR gene (c.677C > T: CT or TT) was correlated with ASD [20] .…”

Section: Discussionmentioning

confidence: 92%

An update on the CHDGKB for the systematic understanding of risk factors associated with non-syndromic congenital heart disease

Yang

Liu

Chen

et al. 2021

Computational and Structural Biotechnology Journal

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The Congenital Heart Disease Genetic Knowledge Base (CHDGKB) was established in 2020 to provide comprehensive knowledge about the genetics and pathogenesis of non-syndromic CHD (NS-CHD). In addition to the genetic causes of NS-CHD, environmental factors such as maternal drug use and gene-environment interactions can also lead to CHD. There is a need to integrate this information into a platform for clinicians and researchers to better understand the overall risk factors associated with NS-CHD. The updated CHDGKB contains the genetic and non-genetic risk factors from over 4200 records from PubMed that was manually curated to include the information associated with NS-CHD. The current version of CHDGKB, named CHD-RF-KB (KnowledgeBase for non-syndromic Congenital Heart Disease-associated Risk Factors), is an important tool that allows users to evaluate the recurrence risk and prognosis of NS-CHD, to guide treatment and highlight the precautions of NS-CHD. In this update, we performed extensive functional analyses of the genetic and non-genetic risk information in CHD-RF-KB. These data can be used to systematically understand the heterogeneous relationship between risk factors and NS-CHD phenotypes.

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“…A subject with a CTD excluded individuals with an isolated VSD or ASD. Given high prevalence in the general population 47 , 48 , individuals with common, minor heart anomalies (VSD that closed spontaneously in infancy, ASD that closed spontaneously in infancy, persistent foramen ovale that closed spontaneously in infancy, or bicuspid aortic valve, in the absence of other malformations), were considered to be controls.…”

Section: Methodsmentioning

confidence: 99%

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS

et al. 2023

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Congenital heart disease (CHD) affecting the conotruncal region of the heart, occurs in 40–50% of patients with 22q11.2 deletion syndrome (22q11.2DS). This syndrome is a rare disorder with relative genetic homogeneity that can facilitate identification of genetic modifiers. Haploinsufficiency of TBX1, encoding a T-box transcription factor, is one of the main genes responsible for the etiology of the syndrome. We suggest that genetic modifiers of conotruncal defects in patients with 22q11.2DS may be in the TBX1 gene network. To identify genetic modifiers, we analyzed rare, predicted damaging variants in whole genome sequence of 456 cases with conotruncal defects and 537 controls, with 22q11.2DS. We then performed gene set approaches and identified chromatin regulatory genes as modifiers. Chromatin genes with recurrent damaging variants include EP400, KAT6A, KMT2C, KMT2D, NSD1, CHD7 and PHF21A. In total, we identified 37 chromatin regulatory genes, that may increase risk for conotruncal heart defects in 8.5% of 22q11.2DS cases. Many of these genes were identified as risk factors for sporadic CHD in the general population. These genes are co-expressed in cardiac progenitor cells with TBX1, suggesting that they may be in the same genetic network. The genes KAT6A, KMT2C, CHD7 and EZH2, have been previously shown to genetically interact with TBX1 in mouse models. Our findings indicate that disturbance of chromatin regulatory genes impact the TBX1 gene network serving as genetic modifiers of 22q11.2DS and sporadic CHD, suggesting that there are some shared mechanisms involving the TBX1 gene network in the etiology of CHD.

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Trends in the Prevalence of Atrial Septal Defect and Its Associated Factors among Congenital Heart Disease Patients in Vietnam

Cited by 7 publications

References 29 publications

Clinical and Echocardiographic Profile of Congenital Heart Diseases in the 0-12-Year Age Group in a Tertiary Care Medical Institute in Eastern India: A Retrospective, Cross-Sectional Study

Clinical and Echocardiographic Profile of Congenital Heart Diseases in the 0-12-Year Age Group in a Tertiary Care Medical Institute in Eastern India: A Retrospective, Cross-Sectional Study

An update on the CHDGKB for the systematic understanding of risk factors associated with non-syndromic congenital heart disease

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS

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