Prevalence of Symptomatic Congenital Heart Disease in Tibetan School Children

Zheng, Jie; Tian, Hui; Zhu, Zhiming; Li, Bin; Lv, Han; Jiang, Shiliang; Chen, Yu; Li, Dongtao; He, Jia; Zhao, Zhe; Cao, Yu; Qiu, Yi-Gang; Li, Tianchang

doi:10.1016/j.amjcard.2013.07.028

Cited by 37 publications

(19 citation statements)

References 9 publications

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“…Congenital heart disease (CHD) represents the most common form of birth defect, accounting for approximately one-third of all major congenital abnormalities, and each year, approximately 1.35 million infants are born with CHD worldwide (1). The estimated prevalence of CHD is 1% in live births, and up to 10% in stillbirths (2)(3)(4). In terms of specific anatomic or hemodynamic lesions, various CHDs are clinically classified into at least 21 distinct categories, including ventricular septal defect, atrial septal defect, endocardial cushion defect, tetralogy of Fallot (TOF), Ebstein's anomaly, double outlet of right ventricle, transposition of the great arteries, patent ductus arteriosus, persistent truncus arteriosus, coarctation of the aorta, aortic stenosis, pulmonary atresia, tricuspid atresia, interrupted aortic arch, total anomalous pulmonary venous connection and hypoplastic left heart syndrome, of which TOF is the most common type of cyanotic CHD, accounting for approximately 10% of all CHD cases (4).…”

Section: Introductionmentioning

confidence: 99%

A novel HAND2 loss-of-function mutation responsible for tetralogy of Fallot

Lü

Gong

Liu

et al. 2015

International Journal of Molecular Medicine

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Congenital heart disease (CHD), the most common type of developmental abnormality, is associated with substantial morbidity and mortality in humans worldwide. The basic helix-loop-helix transcription factor, heart and neural crest derivatives expressed 2 (HAND2), has been demonstrated to be crucial for normal cardiovascular development in animal models. However, whether a genetically defective HAND2 contributes to congenital heart disease (CHD) in humans remains to be explored. In this study, the entire coding region and splicing boundaries of the HAND2 gene were sequenced in a cohort of 145 unrelated patients with CHD. A total of 200 unrelated, ethnically-matched healthy individuals used as controls were also genotyped for HAND2. The functional effect of the mutant HAND2 was characterized in contrast to its wild-type counterpart by using a dual-luciferase reporter assay system. As a result, a novel heterozygous HAND2 mutation, p.L47P, was identified in a patient with tetralogy of Fallot (TOF). The misense mutation, which altered the amino acid conserved evolutionarily among species, was absent in 400 control chromosomes. Functional analyses unveiled that the mutant HAND2 had a significantly decreased transcriptional activity. Furthermore, the mutation markedly reduced the synergistic activation between HAND2 and GATA4 or NKX2.5, other two cardiac key transcription factors involved in the pathogenesis of CHD. To the best of our knowledge, this study is the first to report the association of a HAND2 loss-of-function mutation with an increased vulnerability to TOF in humans, which provides novel insight into the molecular mechanism underpinning CHD, suggesting potential implications for the genetic counseling of families with CHD.

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Section: Introductionmentioning

confidence: 99%

A novel HAND2 loss-of-function mutation responsible for tetralogy of Fallot

Lü

Gong

Liu

et al. 2015

International Journal of Molecular Medicine

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“…This was consistent with previous study that claimed all of the above CHD are indeed included in the eight most common types of CHD. 1 Previous study has shown that infants with CHD generally exhibit symptoms at birth, however, about 25% are only diagnosed in childhood. 4 In this study, the child's age when first diagnosed peaked in the age group 13 Based on this study, the distribution of each age group is dominated by a group of diagnosed at infant period (75.6%), with the proportion of normal status (71.7%).…”

Section: Discussionmentioning

confidence: 99%

“…8 The previous study concluded that the most frequently encountered types of CHD were ASD, VSD, PDA, PS, TOF, COA, TGA, and AS. 1 According to the data obtained in this study, the type of CHD are VSD (32%), PDA (19%), ASD (12%), and TOF (7%), PS (3.5%), AS (1.2%), and TGA (1.2%). This was consistent with previous study that claimed all of the above CHD are indeed included in the eight most common types of CHD.…”

Section: Discussionmentioning

confidence: 99%

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Factors Related to Malnutrition in Children Under Five Years with Congenital Heart Disease

Augiani¹,

Rahayuningsih²,

Herawati³

2017

amj

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Background: Congenital heart disease (CHD) is the most frequent type of heart disease that occurs in children. Children with CHD are more vulnerable to suffer impaired nutritional status related to morbidity and mortality. The nutritional status, however, may not be influenced only by CHD, but also by other factors.. The study was conducted to identify factors related to malnutrition in children with CHD Methods: This cross-sectional study involved 86 children with CHD recruited from Dr. Hasan Sadikin General Hospital Bandung from October to November 2015. Data collected in this study were obtained by conducting anthropometric measurements, interviewed the parents (obstetric history, patient's medical history and socioeonomic status) and from medical records (the type and time of CHD diagnosis, other diseases that accompanied the CHD). The collected data were presented by frequency distribution. Results: There were 46.5% patients who had nutritional disturbance. Malnutrition in males and patients with Tetralogy of Fallot were higher than other groups. Almost half patients with maternal history of passive smoking during pregnancy had nutritional disturbance. The most common disease found was diarrhea followed by lower respiratory infection. Percentage of normal children in low-income parents group was lower than the high-income group.

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“…Epidemiological studies have identified significant environmental risk factors for human CHD, including maternal exposures to alcohol, isotretinoin, thalidomide, antiseizure medications, antiretroviral medications, environmental teratogens and infectious agents. Embryo hypoxia is another well-recognized risk factor caused by smoking, living at high altitude, maternal diabetes, high body mass index, hypertension or prescription medications (Watkins et al, 2003;Jenkins et al, 2007;Zheng et al, 2013;Webster et al, 2014;Ornoy et al, 2015;Ramakrishnan et al, 2015;Sullivan et al, 2015). The specific effects of environment on embryonic development have been studied by exposing pregnant animals to a variety of conditions.…”

Section: Introductionmentioning

confidence: 99%

Gestational stress induces the unfolded protein response, resulting in heart defects

Moreau

Shi

O׳Reilly

et al. 2017

Mechanisms of Development

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Congenital heart disease (CHD) is an enigma. It is the most common human birth defect and yet, even with the application of modern genetic and genomic technologies, only a minority of cases can be explained genetically. This is because environmental stressors also cause CHD. Here we propose a plausible non-genetic mechanism for induction of CHD by environmental stressors. We show that exposure of mouse embryos to short-term gestational hypoxia induces the most common types of heart defect. This is mediated by the rapid induction of the unfolded protein response (UPR), which profoundly reduces FGF signaling in cardiac progenitor cells of the second heart field. Thus, UPR activation during human pregnancy might be a common cause of CHD. Our findings have far-reaching consequences because the UPR is activated by a myriad of environmental or pathophysiological conditions. Ultimately, our discovery could lead to preventative strategies to reduce the incidence of human CHD.

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Prevalence of Symptomatic Congenital Heart Disease in Tibetan School Children

Cited by 37 publications

References 9 publications

A novel HAND2 loss-of-function mutation responsible for tetralogy of Fallot

A novel HAND2 loss-of-function mutation responsible for tetralogy of Fallot

Factors Related to Malnutrition in Children Under Five Years with Congenital Heart Disease

Gestational stress induces the unfolded protein response, resulting in heart defects

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