Advances in the Diagnosis and Management of Congenital Heart Disease in Children

Rao, P. Syamasundar

doi:10.3390/children10040753

Children

2023

DOI: 10.3390/children10040753

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Advances in the Diagnosis and Management of Congenital Heart Disease in Children

P. Syamasundar Rao

Abstract: The last five decades have witnessed an inordinate number of advances in the diagnosis and management of congenital heart defects (CHDs), as reviewed elsewhere [...]

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2024

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Cited by 4 publications

References 10 publications

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Minimally invasive palliative treatment of malignant tracheoesophageal fistula using cardiac septal occluder

Teng,

Zhou,

Xiong

et al. 2024

Langenbecks Arch Surg

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Introduction Tracheoesophageal fistula (TEF) especially malignant TEF (mTEF) is an uncommon yet critical medical condition necessitating immediate intervention. This life-threatening condition frequently manifests in critically ill patients who are dependent on prolonged mechanical ventilation and are unsuitable candidates for thoracotomy due to their compromised health status. The Management of these mTEF patients remain a significant challenge.This study aimed to evaluate the safety and efficacy of using a cardiac septal occluder for the closure of mTEF. Methods 8 patients with mTEF underwent closure surgery using atrial/ventricular septal defect (ASD/VSD) septal occluders at the Respiratory Department of HuBei Yichang Central People’s Hospital from 2021 to 2023. The procedure involved percutaneous placement of the occluder through the fistula to achieve closure. Results The placement of the cardiac septal occluder was successfully achieved with ease and efficiency in all patients. The study demonstrated that the use of cardiac septal occluder therapy in patients with mTEF can alleviate symptoms, improve quality of life, and enhance survival rates, with no significant complications observed. Furthermore, the study provided comprehensive details on surgical indications, preoperative evaluation and diagnosis, selection of occluder, methods of occlusion, and postoperative care. Conclusions The application of cardiac septal occluder in the treatment of mTEF is a safe and effective palliative treatment. This approach may be particularly beneficial for patients with a high risk of complications and mortality associated with traditional surgical interventions.

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Minimally invasive palliative treatment of malignant tracheoesophageal fistula using cardiac septal occluder

Teng,

Zhou,

Xiong

et al. 2024

Langenbecks Arch Surg

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Somatic GATA4 mutation contributes to tetralogy of Fallot

Abhinav,

Li,

Huang

et al. 2024

Exp Ther Med

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Tetralogy of Fallot (TOF) is the most prevalent cyanotic congenital heart pathology and causes infant morbidity and mortality worldwide. GATA-binding protein 4 (GATA4) serves as a pivotal transcriptional factor for embryonic cardiogenesis and germline GATA4 mutations are causally linked to TOF. However, the effects of somatic GATA4 mutations on the pathogenesis of TOF remain to be ascertained. In the present study, sequencing assay of GATA4 was performed utilizing genomic DNA derived from resected heart tissue specimens as well as matched peripheral blood specimens of 62 patients with non-familial TOF who underwent surgical treatment for TOF. Sequencing of GATA4 was also performed using the heart tissue specimens as well as matched peripheral venous blood samples of 68 sporadic cases who underwent heart valve displacement because of rheumatic heart disorder and the peripheral venous whole blood samples of 216 healthy subjects. The function of the mutant was explored by dual-luciferase activity analysis. Consequently, a new GATA4 mutation, NM_002052.5:c.708T>G;p.(Tyr236*), was found in the heart tissue of one patient with TOF. No mutation was detected in the heart tissue of the 68 cases suffering from rheumatic heart disorder or in the venous blood samples of all 346 individuals. GATA4 mutant failed to transactivate its target gene, myosin heavy chain 6. Additionally, this mutation nullified the synergistic transactivation between GATA4 and T-box transcription factor 5 or NK2 homeobox 5, two genes causative for TOF. Somatic GATA4 mutation predisposes TOF, highlighting the significant contribution of somatic variations to the molecular pathogenesis underpinning TOF.

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Discovery and functional investigation of BMP4 as a new causative gene for human congenital heart disease

Wang

2024

Am J Transl Res

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Objective: Aggregating evidence highlights the strong genetic basis underpinning congenital heart disease (CHD). Here BMP4 was chosen as a prime candidate gene causative of human CHD predominantly because BMP4 was amply expressed in the embryonic hearts and knockout of Bmp4 in mice led to embryonic demise mainly from multiple cardiovascular developmental malformations. The aim of this retrospective investigation was to discover a novel BMP4 mutation underlying human CHD and explore its functional impact. Methods: A sequencing examination of BMP4 was implemented in 212 index patients suffering from CHD and 236 unrelated non-CHD individuals as well as the family members available from the proband carrying a discovered BMP4 mutation. The impacts of the discovered CHD-causing mutation on the expression of NKX2-5 and TBX20 induced by BMP4 were measured by employing a dual-luciferase analysis system. Results: A new heterozygous BMP4 mutation, NM_001202.6:c.318T>G;p. (Tyr106*), was found in a female proband affected with familial CHD. Genetic research of the mutation carrier's relatives unveiled that the truncating mutation was in co-segregation with CHD in the pedigree. The nonsense mutation was absent from 236 unrelated non-CHD control persons. Quantitative biologic measurement revealed that Tyr106*-mutant BMP4 failed to induce the expression of NKX2-5 and TBX20, two genes whose expression is lost in CHD. Conclusion: The current findings indicate BMP4 as a new gene predisposing to human CHD, allowing for improved prenatal genetic counseling along with personalized treatment of CHD patients.

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Advances in the Diagnosis and Management of Congenital Heart Disease in Children

Abstract: The last five decades have witnessed an inordinate number of advances in the diagnosis and management of congenital heart defects (CHDs), as reviewed elsewhere [...]

Cited by 4 publications

References 10 publications

Minimally invasive palliative treatment of malignant tracheoesophageal fistula using cardiac septal occluder

Minimally invasive palliative treatment of malignant tracheoesophageal fistula using cardiac septal occluder

Somatic GATA4 mutation contributes to tetralogy of Fallot

Discovery and functional investigation of BMP4 as a new causative gene for human congenital heart disease

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