Impact of congenital heart disease on fetal brain development and injury

Donofrio, Mary T.; duPlessis, Adré J.; Limperopoulos, Catherine

doi:10.1097/mop.0b013e32834aa583

Cited by 93 publications

(88 citation statements)

References 93 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Various cardiovascular developmental abnormalities, such as ventricular septal defect, atrial septal defect, tetralogy of Fallot, patent ductus arteriosis, atrioventricular septal defect, double outlet right ventricle, pulmonary stenosis, and transposition of great arteries, may occur individually or in combination. These anomalies may result in degraded quality of life, delayed fetal brain development, cardiac enlargement or hypertrophy, pulmonary hypertension, infective endocarditis, thromboembolism, Eisenmenger's syndrome, congestive heart failure, arrhythmias, as well as sudden cardiac death in the absence of surgical or catheter-based repairs (4)(5)(6)(7)(8)(9)(10). Despite the high prevalence and significant clinical importance, the molecular mechanism of CHD remains poorly understood (11).…”

Section: Introductionmentioning

confidence: 99%

Somatic GATA5 mutations in sporadic tetralogy of Fallot

Huang

Xue

et al. 2014

International Journal of Molecular Medicine

View full text Add to dashboard Cite

Abstract. Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart disease, with high morbidity and mortality rates. Accumulating evidence has demonstrated that genetic defects play an important role in the pathogenesis of TOF. However, the molecular basis of TOF in the majority of patients remains to be determined. In the present study, sequence analysis of the coding exons and exon-intron boundaries of GATA5, a gene encoding a zinc finger-containing transcriptional factor crucial for cardiogenesis, was performed on genomic DNA isolated from resected cardiac tissue and matched blood samples of 85 unrelated patients who underwent surgical repair of TOF. Genotyping was performed on the cardiac tissue and matched blood samples from 63 unrelated patients who underwent cardiac valve replacement due to rheumatic heart disease as well as the blood samples obtained from 200 unrelated healthy individuals. The functional effect of the mutations was evaluated by using a luciferase reporter assay system. As a result, the novel heterozygous GATA5 mutations, p.D203E and p.Y208X, were found in the cardiac tissues of two TOF patients, respectively. There were no mutations in the cardiac tissues obtained from 63 patients with rheumatic heart disease nor in the blood samples obtained from the 348 subjects. Functional analysis revealed that the GATA5 mutants were consistently associated with significantly decreased transcriptional activity compared with their wild-type counterpart. Thus, results of this study showed an association of somatic GATA5 mutations with TOF, providing further insight into the underlying molecular mechanism of TOF.

show abstract

Section: Introductionmentioning

confidence: 99%

Somatic GATA5 mutations in sporadic tetralogy of Fallot

Huang

Xue

et al. 2014

International Journal of Molecular Medicine

View full text Add to dashboard Cite

show abstract

“…An explanation for the interchangeable cerebral rSO 2 and FTOE values in infants with antegrade and infants with retrograde blood flow in the ascending aorta might be the persistence of antenatal circulatory alterations in favor of brain perfusion after birth. Fetuses with CHD often show signs of brain sparing [6,7,8], with fetuses with LSOL with retrograde blood flow being more affected than fetuses with LSOL with antegrade blood flow in the ascending aorta [9]. Furthermore, fetuses with CHD and a cerebroplacental ratio <1.0 (brain sparing) had higher cerebral blood flow after birth compared with fetuses with CHD and cerebroplacental ratio >1.0 [21].…”

Section: Discussionmentioning

confidence: 99%

“…Antenatally, normal distribution of oxygenated blood could be disturbed and vascular resistance may be altered in fetuses with CHD [3,6,7,8]. It has been reported that fetuses with left-sided obstructive lesions (LSOL) have lower pulsatility indices of the middle cerebral artery (MCA-PI) compared with fetuses without CHD [9].…”

Section: Introductionmentioning

confidence: 99%

Cerebral and Renal Oxygen Saturation Are Not Compromised in the Presence of Retrograde Blood Flow in either the Ascending or Descending Aorta in Term or Near-Term Infants with Left-Sided Obstructive Lesions

Laan

Mebius²,

Roofthooft³

et al. 2017

Neonatology

View full text Add to dashboard Cite

Background: In infants with left-sided obstructive lesions (LSOL), the presence of retrograde blood flow in either the ascending or descending aorta may lead to diminished cerebral and renal blood flow, respectively. Objectives: Our aim was to compare cerebral and renal tissue oxygen saturation (rSO₂) between infants with LSOL with antegrade and retrograde blood flow in the ascending aorta and with and without diastolic backflow in the descending aorta. Methods: Based on 2 echocardiograms, the study group was categorized according to the direction of blood flow in the ascending and descending aorta. We measured cerebral and renal rSO₂ using near-infrared spectroscopy and calculated fractional tissue oxygen extraction (FTOE). Results: Nineteen infants with LSOL, admitted to the NICU between 0 and 28 days after birth, were included. Infants with antegrade blood flow (n = 12) and infants with retrograde blood flow in the ascending aorta (n = 7) had similar cerebral rSO₂ and FTOE during both echocardiograms. Only during the first echocardiogram, infants with retrograde blood flow in the ascending aorta had lower renal FTOE (0.14 vs. 0.32, p = 0.04) and tended to have higher renal rSO₂ (80 vs. 65%, p = 0.09). The presence of diastolic backflow in the descending aorta was not associated with cerebral or renal rSO₂ and FTOE during the first (n = 8) as well as the second echocardiogram (n = 10). Conclusions: Retrograde blood flow in the ascending aorta was not associated with cerebral oxygenation, while diastolic backflow in the descending aorta was not associated with renal oxygenation in infants with LSOL.

show abstract

“…1 Infants with congenital heart disease have abnormal and immature fetal brain development. 24 They often undergo palliative surgery requiring cardiopulmonary bypass in the neonatal period and then as infants and toddlers, during periods of critical brain development. These factors, along with repeated anesthetic exposure, abnormal cerebral perfusion pressures resulting from elevated central venous pressure, and long-term hospitalizations, increase the risk of shortand long-term neurodevelopmental, behavioral, and learning impairments.…”

Section: Discussionmentioning

confidence: 99%

The Fontan Procedure for Single-Ventricle Physiology

Jones

2018

Critical Care Nurse

View full text Add to dashboard Cite

The Fontan procedure is the final procedure in staged palliation for patients with functional single-ventricle physiology. The goal of the procedure is to separate systemic and pulmonary blood flow by directing systemic venous return through the Fontan connection to the pulmonary arteries and the lungs without ventricular contribution. Following the procedure, pulmonary blood flow is completely passive and dependent on pressure gradients, resulting in complex postoperative cardiopulmonary interactions. Understanding the physiology is essential to effectively manage these patients. Critical care nurses caring for patients after a Fontan procedure must understand preoperative data, risk factors, and unique postoperative physiology so they can anticipate specific postoperative problems, recognize trends in clinical status, and develop an appropriate plan of care. This paper reviews the first 2 stages of single-ventricle palliation, relevant modifications to the Fontan procedure, important preoperative cardiac catheterization data, common postoperative problems, and outcomes after the Fontan procedure. 1 The goal of the Fontan procedure is to completely separate pulmonary and systemic blood flow, thereby preventing the mixing of oxygenated and deoxygenated blood.2 Systemic venous return is passively diverted through the Fontan circuit directly to the pulmonary arteries and the lungs without any ventricular contribution to flow. Since its inception, the surgical procedure has undergone many modifications to optimize the hemodynamics and minimize the risks. As with the surgical modifications, postoperative management has evolved as our understanding of the complex cardiopulmonary interactions has improved. This article has been designated for CE contact hour(s). The evaluation tests your knowledge of the following objectives: 1. Articulate the purpose of the Fontan operation. 2. Describe the major modifications to the Fontan operation. 3. Explain common postoperative problems after the Fontan operation.To complete evaluation for CE contact hour(s) for activity C1813, visit www.ccnonline.org and click the "CE Articles" button. No CE fee for AACN members. This activity expires on February 1, 2021.

show abstract

Impact of congenital heart disease on fetal brain development and injury

Cited by 93 publications

References 93 publications

Somatic GATA5 mutations in sporadic tetralogy of Fallot

Somatic GATA5 mutations in sporadic tetralogy of Fallot

Cerebral and Renal Oxygen Saturation Are Not Compromised in the Presence of Retrograde Blood Flow in either the Ascending or Descending Aorta in Term or Near-Term Infants with Left-Sided Obstructive Lesions

The Fontan Procedure for Single-Ventricle Physiology

Contact Info

Product

Resources

About