Genetic Contribution to Congenital Heart Disease (CHD)

Shabana, N.A.; Shahid, Saleem Ullah; Irfan, Uzma

doi:10.1007/s00246-019-02271-4

Cited by 45 publications

(36 citation statements)

References 54 publications

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“…Cardiogenesis undergoes a highly complex biological process, and both environmental and genetic pathogenic factors can perturb this finely regulated process, leading to CHD (Patel and Burns, 2013;Pierpont et al, 2018;Shabana et al, 2020). The well-established environmental factors underlying CHD include maternal conditions (such as innutrition, viral infection and endocrine disorder) and exposures to toxic chemicals, therapeutic drugs, or ionizing radiation during pregnancy (Patel and Burns, 2013).…”

Section: Introductionmentioning

confidence: 99%

“…The well-established environmental factors underlying CHD include maternal conditions (such as innutrition, viral infection and endocrine disorder) and exposures to toxic chemicals, therapeutic drugs, or ionizing radiation during pregnancy (Patel and Burns, 2013). However, increasing studies underscore the genetic defects underpinning CHD, and variations in over 70 genes, encompassing those encoding transcription factors, signaling molecules, and sarcomeric proteins, have been involved in CHD (Bashamboo et al, 2018;Cantù et al, 2018;Jaouadi et al, 2018;Li et al, 2018a,c;Lombardo et al, 2018;Manheimer et al, 2018;Pierpont et al, 2018;Razmara and Garshasbi, 2018;Stephen et al, 2018;Xu et al, 2018;Yu Z et al, 2018;Alankarage et al, 2019;Gao et al, 2019;Kalayinia et al, 2019Kalayinia et al, , 2020Ma et al, 2019;Wang J et al, 2019, Wang Z et al, 2019Watkins et al, 2019;Zhu et al, 2019;Faucherre et al, 2020;Shabana et al, 2020;Zhao et al, 2020). Among the recognized CHD-causative genes, the majority code for cardiac transcription factors, encompassing TBX5, GATA4, and NKX2-5 (Li and Yang, 2017).…”

Section: Introductionmentioning

confidence: 99%

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A novel TBX5 mutation predisposes to familial cardiac septal defects and atrial fibrillation as well as bicuspid aortic valve

Jiang

Zhao

et al. 2020

Genet. Mol. Biol.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

A novel TBX5 mutation predisposes to familial cardiac septal defects and atrial fibrillation as well as bicuspid aortic valve

Jiang

Zhao

et al. 2020

Genet. Mol. Biol.

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“…However, the majority of individuals with a CHD appear to be non-syndromic [ 4 , 5 ]. While a genetic contribution to non-syndromic CHDs has long been suspected, the number of genes for which there is strong evidence of an association with non-syndromic forms of human CHDs is relatively small [ 5 , 6 , 7 ].…”

Section: Introductionmentioning

confidence: 99%

Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects

Musfee

Agopian

Goldmuntz

et al. 2021

Genes

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There is strong evidence for a genetic contribution to non-syndromic congenital heart defects (CHDs). However, exome- and genome-wide studies conducted at the variant and gene-level have identified few genome-wide significant CHD-related genes. Gene-set analyses are a useful complement to such studies and candidate gene-set analyses of rare variants have provided insight into the genetics of CHDs. However, similar analyses have not been conducted using data on common genetic variants. Consequently, we conducted common variant analyses of 15 CHD candidate gene-sets, using data from two common types of CHDs: conotruncal heart defects (1431 cases) and left ventricular outflow tract defects (509 cases). After Bonferroni correction for evaluation of multiple gene-sets, the cytoskeletal gene-set was significantly associated with conotruncal heart defects (βS = 0.09; 95% confidence interval (CI) 0.03–0.15). This association was stronger when analyses were restricted to the sub-set of cytoskeletal genes that have been observed to harbor rare damaging genotypes in at least two CHD cases (βS = 0.32, 95% CI 0.08–0.56). These findings add to the evidence linking cytoskeletal genes to CHDs and suggest that, for cytoskeletal genes, common variation may contribute to the risk of CHDs.

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“…Defects in cardiac development often lead to congenital heart disease. It has been shown that both genetics and environmental factors affect the pathogenesis of CHDs ( 12 , 13 ), but the underlying mechanism is still not fully understood. Ventricular septal defect may be inherited and sometimes is associated with other congenital disorders, such as Down syndrome.…”

Section: Introductionmentioning

confidence: 99%

A Chromosomal Inversion of 46XX, inv (6) (p21.3p23) Connects to Congenital Heart Defects

Tang

Lin

et al. 2020

Front. Cardiovasc. Med.

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Congenital heart defects (CHDs) represent the most common human birth defects. Ventricular septal defect (VSD) is the most common subtype of CHDs. It has been shown that about 20–40% of VSDs are closely related to chromosomal aneuploidies or Mendelian diseases. In this study, we report a pedigree with VSD associated with a balanced paracentric inversion of chromosome 6, inv (6)(p21.3p23), a rarely reported CHD-associated chromosomal abnormality related to the fragile site at 6p23. We have found that the major clinical features of the proband include CHDs (ventricular septal defect, severe pulmonary hypertension, tricuspid regurgitation, and patent foramen ovale), severe pneumonia, and growth retardation. Our study reports a rare chromosomal abnormality connected to CHDs, which may represent a new genetic etiology for VSD.

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Genetic Contribution to Congenital Heart Disease (CHD)

Cited by 45 publications

References 54 publications

A novel TBX5 mutation predisposes to familial cardiac septal defects and atrial fibrillation as well as bicuspid aortic valve

A novel TBX5 mutation predisposes to familial cardiac septal defects and atrial fibrillation as well as bicuspid aortic valve

Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects

A Chromosomal Inversion of 46XX, inv (6) (p21.3p23) Connects to Congenital Heart Defects

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