The state of congenital heart disease

Kruszka, Paul; Beaton, Andrea

doi:10.1002/ajmg.c.31776

Cited by 5 publications

(6 citation statements)

References 11 publications

(20 reference statements)

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“…Congenital heart disease (CHD) is the most common birth defect occurring in approximately 1% of all live births and affecting millions of individuals internationally [ 1 ]. Although surgical techniques had achieved massive breakthroughs, postoperative morbidity and mortality among infants and young children remain relatively high [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

Effect of CPB glucose levels on inflammatory response after pediatric cardiac surgery

Zeng

Liu

et al. 2022

BMC Cardiovasc Disord

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Background Systemic inflammatory response syndrome (SIRS) is a common complication after cardiac surgery. There are no definite optimal glycemic threshold for pediatric patients receiving open-heart surgery with CPB. The study aimed to investigate the optimal cardiopulmonary bypass (CPB) glucose in patients undergoing cardiac surgery. Methods We enrolled children with congenital heart disease who underwent surgical repair between June 2012 and December 2020. We included only patients who underwent cardiac surgery with CPB. The primary outcome was severe SIRS. A two-piece-wise regression model was applied to examine threshold effect of CPB glucose on severe SIRS. Results A total of 7350 patients were enrolled in the present study, of whom 3895 (52.99%) are female. After potential confounders were adjusted, non-linear relationship was detected between CPB glucose and severe SIRS, whose turning point was 8.1. With CPB glucose < 8.1 mmol/L, the estimated dose–response curve was consistent with a horizontal line. However, the prevalence of severe SIRS increased with increasing glucose up to the turning point (Glucose > 8.1 mmol/L); the odds ratio (OR) of the Glucose was 1.35 (95% CI 1.21, 1.50). Conclusions The present study indicates the association of CPB glucose with inflammatory response after pediatric cardiac surgery. The patients might have the best outcomes with the optimal CPB glucose no more than 8.1 mmol/L.

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Section: Introductionmentioning

confidence: 99%

Effect of CPB glucose levels on inflammatory response after pediatric cardiac surgery

Zeng

Liu

et al. 2022

BMC Cardiovasc Disord

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“…Congenital heart disease (CHD) has been recognized as the most common type of birth defect, with a total birth prevalence of six to 13 per 1,000 newborn babies, 1 which is considered to be a substantial cause of early fetal morbidity and mortality 2 . With the tremendous advances in antenatal diagnosis, medical care and surgical treatment in childhood, mortality in infants and children has notably declined, causing a rapid increase in the number of adults with CHD 3–5 . Life‐long CHD and multisystem health issues may impose enormous physical, emotional and social economic burdens on patients and families, affecting their quality of life 2 .…”

Section: Introductionmentioning

confidence: 99%

“…2 With the tremendous advances in antenatal diagnosis, medical care and surgical treatment in childhood, mortality in infants and children has notably declined, causing a rapid increase in the number of adults with CHD. [3][4][5] Life-long CHD and multisystem health issues may impose enormous physical, emotional and social economic burdens on patients and families, affecting their quality of life. 2 Therefore, it is imperative to understand the etiology and mechanisms of CHD for precision medicine and genetic counseling.…”

Section: Introductionmentioning

confidence: 99%

Identification and functional analysis of genetic variants of ISL1 gene promoter in human atrial septal defects

Yin

Chen

et al. 2022

The Journal of Gene Medicine

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Background: Atrial septal defect (ASD) is a common type of congenital heart disease.A gene promoter plays pivotal role in the disease development. This study was designed to investigate the pathological role of variants of the ISL1 gene promoter region in ASD patients.Methods: Total DNA extracted from 625 subjects, including 332 ASD patients and 293 healthy controls, was sequenced to identify variants in the promoter region of ISL1 gene. Further functional analyses of the variants were performed with dual luciferase reporter assay and electrophoretic mobility shift assay (EMSA). All possible binding sites of transcription factor affected by the identified variants were predicted using the JASPAR database.Results: Four variants in the ISL1 gene promoter were found only in patients with ASD by sequencing. Three of the four variants [g.4923 G > C (rs541081886), g.5079 A > G (rs1371835943) and g.5309 G > A (rs116222082)] significantly decreased the transcriptional activities compared with the wild-type ISL1 gene promoter (p < 0.05).The EMSA revealed that these variants [g.4923 G > C (rs541081886), g.5079 A > G (rs1371835943) and g.5309 G > A (rs116222082)] in the ISL1 gene promoter affected the number and affinity of binding sites of transcription factors. Further analysis with the online JASPAR database demonstrated that a cluster of putative binding sites for transcription factors may be altered by these variants.Conclusions: These sequence variants identified from the promoter region of ISL1 gene in ASD patients are probably involved in the development of ASD by affecting the transcriptional activity and altering ISL1 levels. Therefore, these findings may provide new insights into the molecular etiology and potential therapeutic strategy of ASD.

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“…Congenital heart disease is the most common birth defect worldwide, affecting millions of newborn infants every year 1 . Improved care, especially surgical interventions, has resulted in most children with congenital heart disease in developed countries surviving to adulthood 2 . Success of these improvements exposed a heightened risk of brain injury and developmental disorders and disabilities 3 .…”

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confidence: 99%

“… 1 Improved care, especially surgical interventions, has resulted in most children with congenital heart disease in developed countries surviving to adulthood. 2 Success of these improvements exposed a heightened risk of brain injury and developmental disorders and disabilities. 3 Infants with complex congenital heart disease (CCHD), including those with single ventricle physiology, have impaired circulation, reduced blood oxygen carrying capacity to the fetal and neonatal brain, and impaired brain growth in utero compared to infants without CCHD.…”

mentioning

confidence: 99%

Motor development in infants with complex congenital heart disease: A longitudinal study

Huisenga

Gemert

Bergen

et al. 2022

Develop Med Child Neuro

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Congenital heart disease is the most common birth defect worldwide, affecting millions of newborn infants every year. 1 Improved care, especially surgical interventions, has resulted in most children with congenital heart disease in developed countries surviving to adulthood. 2 Success of these improvements exposed a heightened risk of brain injury and developmental disorders and disabilities. 3 Infants with complex congenital heart disease (CCHD), including those with single ventricle physiology, have impaired circulation, reduced blood oxygen carrying capacity to the fetal and neonatal brain, and impaired brain growth in utero compared to infants without CCHD. 4,5 A recent systematic review and meta-analysis on neurodevelopmental outcomes from birth through adolescence in newborn infants with

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The state of congenital heart disease

Cited by 5 publications

References 11 publications

Effect of CPB glucose levels on inflammatory response after pediatric cardiac surgery

Effect of CPB glucose levels on inflammatory response after pediatric cardiac surgery

Identification and functional analysis of genetic variants of ISL1 gene promoter in human atrial septal defects

Motor development in infants with complex congenital heart disease: A longitudinal study

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