Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects—A Narrative Review
Congenital heart defects (CHD) are the most common congenital abnormality, with an overall global birth prevalence of 9.41 per 1000 live births. The etiology of CHDs is complex and still poorly understood. Environmental factors account for about 10% of all cases, while the rest are likely explained...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-04-01
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| Series: | Children |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2227-9067/10/5/812 |
| _version_ | 1827741695656067072 |
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| author | Alexandru Cristian Bolunduț Cecilia Lazea Carmen Mihaela Mihu |
| author_facet | Alexandru Cristian Bolunduț Cecilia Lazea Carmen Mihaela Mihu |
| author_sort | Alexandru Cristian Bolunduț |
| collection | DOAJ |
| description | Congenital heart defects (CHD) are the most common congenital abnormality, with an overall global birth prevalence of 9.41 per 1000 live births. The etiology of CHDs is complex and still poorly understood. Environmental factors account for about 10% of all cases, while the rest are likely explained by a genetic component that is still under intense research. Transcription factors and signaling molecules are promising candidates for studies regarding the genetic burden of CHDs. The present narrative review provides an overview of the current knowledge regarding some of the genetic mechanisms involved in the embryological development of the cardiovascular system. In addition, we reviewed the association between the genetic variation in transcription factors and signaling molecules involved in heart development, including TBX5, GATA4, NKX2-5 and CRELD1, and congenital heart defects, providing insight into the complex pathogenesis of this heterogeneous group of diseases. Further research is needed in order to uncover their downstream targets and the complex network of interactions with non-genetic risk factors for a better molecular–phenotype correlation. |
| first_indexed | 2024-03-11T03:50:46Z |
| format | Article |
| id | doaj.art-6cf4d6dbbaff44dab8b01c72f06bd4ab |
| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-03-11T03:50:46Z |
| publishDate | 2023-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Children |
| spelling | doaj.art-6cf4d6dbbaff44dab8b01c72f06bd4ab2023-11-18T00:55:16ZengMDPI AGChildren2227-90672023-04-0110581210.3390/children10050812Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects—A Narrative ReviewAlexandru Cristian Bolunduț0Cecilia Lazea1Carmen Mihaela Mihu21st Department of Pediatrics, “Iuliu Hațieganu” University of Medicine and Pharmacy, 400370 Cluj-Napoca, Romania1st Department of Pediatrics, “Iuliu Hațieganu” University of Medicine and Pharmacy, 400370 Cluj-Napoca, RomaniaDepartment of Histology, “Iuliu Hațieganu” University of Medicine and Pharmacy, 400012 Cluj-Napoca, RomaniaCongenital heart defects (CHD) are the most common congenital abnormality, with an overall global birth prevalence of 9.41 per 1000 live births. The etiology of CHDs is complex and still poorly understood. Environmental factors account for about 10% of all cases, while the rest are likely explained by a genetic component that is still under intense research. Transcription factors and signaling molecules are promising candidates for studies regarding the genetic burden of CHDs. The present narrative review provides an overview of the current knowledge regarding some of the genetic mechanisms involved in the embryological development of the cardiovascular system. In addition, we reviewed the association between the genetic variation in transcription factors and signaling molecules involved in heart development, including TBX5, GATA4, NKX2-5 and CRELD1, and congenital heart defects, providing insight into the complex pathogenesis of this heterogeneous group of diseases. Further research is needed in order to uncover their downstream targets and the complex network of interactions with non-genetic risk factors for a better molecular–phenotype correlation.https://www.mdpi.com/2227-9067/10/5/812congenital heart defectsTBX5GATA4NKX2-5CRELD1 |
| spellingShingle | Alexandru Cristian Bolunduț Cecilia Lazea Carmen Mihaela Mihu Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects—A Narrative Review Children congenital heart defects TBX5 GATA4 NKX2-5 CRELD1 |
| title | Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects—A Narrative Review |
| title_full | Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects—A Narrative Review |
| title_fullStr | Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects—A Narrative Review |
| title_full_unstemmed | Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects—A Narrative Review |
| title_short | Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects—A Narrative Review |
| title_sort | genetic alterations of transcription factors and signaling molecules involved in the development of congenital heart defects a narrative review |
| topic | congenital heart defects TBX5 GATA4 NKX2-5 CRELD1 |
| url | https://www.mdpi.com/2227-9067/10/5/812 |
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