Neurocognitive Deficits in Adult Congenital Heart Disease: Does Coronary Artery Disease Add Insult to Injury?

Morello, Melissa L.; Beidelman, Mark; Saha, Priyanka; Ingelsson, Erik; Shaw, Gary M.; Priest, James R.

doi:10.1016/s0735-1097(19)31174-x

Cited by 3 publications

(1 citation statement)

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“…Genome-wide association studies (GWAS) have provided evidence suggesting that CNVs significantly contribute to increased risk for congenital heart disease in conjunction with nervous system abnormalities [ 44 , 45 , 46 ]. It is also known, however, that syndromic disease-associated features may be nonspecific or erroneously attributed to cardiac lesions.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic Value of Chromosomal Microarray Analysis for Fetal Congenital Heart Defects with Different Cardiac Phenotypes and Extracardiac Abnormalities

et al. 2023

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(1) Background: The objective of this study was to investigate the diagnostic value of chromosomal microarray analysis (CMA) for congenital heart defects (CHDs) with different cardiac phenotypes and extracardiac abnormalities (ECAs) and to explore the pathogenic genetic factors of CHDs. (2) Methods: We collected fetuses diagnosed with CHDs by echocardiography at our hospital from January 2012 to December 2021. We analyzed the CMA results of 427 fetuses with CHDs. We then categorized the CHD into different groups according to two dimensions: different cardiac phenotypes and whether it was combined with ECAs. The correlation between the numerical chromosomal abnormalities (NCAs) and copy number variations (CNVs) with CHDs was analyzed. Statistical analyses, including Chi-square tests and t-tests, were performed on the data using IBM SPSS and GraphPad Prism. (3) Results: In general, CHDs with ECAs increased the detection rate for CA, especially the conotruncal defects. CHD combined with the thoracic and abdominal walls and skeletal, thymic and multiple ECAs, were more likely to exhibit CA. Among the CHD phenotypes, VSD and AVSD were associated with NCA, while DORV may be associated with NCA. The cardiac phenotypes associated with pCNVs were IAA (type A and B), RAA, TAPVC, CoA and TOF. In addition, IAA, B, RAA, PS, CoA and TOF were also associated with 22q11.2DS. The length distribution of the CNV was not significantly different between each CHD phenotype. We detected twelve CNV syndromes, of which six syndromes may be related to CHDs. The pregnancy outcome in this study suggests that termination of pregnancy with fetal VSD and vascular abnormality is more dependent on genetic diagnosis, whereas the outcome in other phenotypes of CHDs may be associated with other additional factors. (4) Conclusions: CMA examination for CHDs is still necessary. We should identify the existence of fetal ECAs and specific cardiac phenotypes, which are helpful for genetic counseling and prenatal diagnosis.

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Section: Discussionmentioning

confidence: 99%

Diagnostic Value of Chromosomal Microarray Analysis for Fetal Congenital Heart Defects with Different Cardiac Phenotypes and Extracardiac Abnormalities

et al. 2023

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Impact of copy number variation on human neurocognitive deficits and congenital heart defects: A systematic review

Savory

Manivannan

Zaben

et al. 2020

Neuroscience & Biobehavioral Reviews

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Diagnostic value of CMA in different phenotypes of fetal congenital heart defects

Zhang

Pei

Wang

et al. 2022

Preprint

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Objective To evaluate the detection rate of fetal chromosomal abnormalities in congenital heart defects (CHD), further dig the potential diagnostic value of Chromosomal Microarray Analysis (CMA) technology for different phenotypes, and explore the possible genetic pathogenic factors of CHD. Methods We analyzed the CMA of 427 cases of CHD fetuses, and divided CHD into different groups according to two dimensions. According to whether they were combined with ECA, they were divided into isolated CHD and non-isolated CHD; According to the cardiac phenotype, they were divided into ten groups. The correlation between numerical chromosomal abnormalities (NCA), and copy number variations (CNVs, except likely benign and benign CNVs) with CHD was analyzed by Mantel test. Results In general, CHD with ECAs were more likely to have a genetic abnormality than those without ECAs (39.3% vs. 14.8%, P<0.05). The genetic abnormality rate of 427 fetuses was 21.8% (93/427), the detection rate of NCA was 12.9% (55/427), the most relevant were skeletal, Craniofacial, VSD, AVSD (P<0.05); and the detection rate of pCNVs was 8.9% (38/427), the most relevant were IAA, A, IAA, B, RAA, TAPVC, CoA, TOF and thymic abnormality. 22q11.2DS and had the highest detection, the detection rate of 22q11.2DS in the subgroups were IAA, B, RAA, PS, CoA, TOF and thymic abnormality. Overall analysis of cases, the CNV deletion fragment larger than 1 Mb may be pathogenic. In CNV, deletion was more likely to be pathogenic than duplication. In addition, we detected 12 CNV syndromes; among of them, 9 syndromes that may be related to CHD. gene LIMK1 and MYH11 have been identified as part of a common pathway between cardiovascular and neurological development; candidate genes are considered to be related to heart and/or involved in embryonic development, FLI1, NIPBL, DLL1, PTPN11, TBX5. Conclusion Increased risk of genetic abnormalities in non-isolated CHD; CHD phenotype most related to NCA, pCNV and 22q11.2DS was found; and 12 CNV syndromes and 7 meaningful candidate genes were detected.

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Neurocognitive Deficits in Adult Congenital Heart Disease: Does Coronary Artery Disease Add Insult to Injury?

Cited by 3 publications

References 0 publications

Diagnostic Value of Chromosomal Microarray Analysis for Fetal Congenital Heart Defects with Different Cardiac Phenotypes and Extracardiac Abnormalities

Diagnostic Value of Chromosomal Microarray Analysis for Fetal Congenital Heart Defects with Different Cardiac Phenotypes and Extracardiac Abnormalities

Impact of copy number variation on human neurocognitive deficits and congenital heart defects: A systematic review

Diagnostic value of CMA in different phenotypes of fetal congenital heart defects

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