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Acta Cardiologica Jun 2024
PubMed: 38913955
DOI: 10.1080/00015385.2024.2347681 -
Cureus May 2024Cyclin-dependent kinase 13 (CDK13)-related disorder is a rare autosomal dominant disease caused by pathogenic variants in the gene. This disorder was found to be...
Cyclin-dependent kinase 13 (CDK13)-related disorder is a rare autosomal dominant disease caused by pathogenic variants in the gene. This disorder was found to be related to several clinical features, including structural cardiac anomalies, developmental delay, anomalies of the corpus callosum, and a variety of facial dysmorphisms. In addition, feeding difficulties and neonatal hypotonia might also present. The diagnosis of this disorder is based on molecular genetic testing to detect the causative pathogenic variants. Here, we report a case of a one-year-old girl from Yemen, residing in Bahrain, with a CDK13-related disorder who was found to have an unusual association of abdominal situs inversus along with multiple structural cardiac anomalies, including atrial septal defect, ventricular septal defect, patent ductus arteriosus, interrupted inferior vena cava, bilateral superior vena cava, mild coarctation of the aorta, dilated coronary sinuses, and mild regurgitation in the tricuspid valve. Moreover, facial dysmorphism including medial epicanthal folds, posteriorly rotated ears, and a depressed nasal bridge was also noted. Further assessment showed a delay in reaching developmental milestones, including speech and motor delay. The patient also presented with recurrent episodes of upper respiratory tract infections, acute bronchiolitis, and lobar pneumonia which required admission to the intensive care unit and ventilation. The last infection episode was at the age of one year. Thereafter, the patient underwent cardiac repair of the ventricular septal defect followed by no more infection episodes until the age of one year and two months. The diagnosis of CDK13 was confirmed by a whole exome sequencing test which demonstrated a novel missense variant in exon 14 of the gene as a variant of uncertain significance in a heterozygous state.
PubMed: 38910624
DOI: 10.7759/cureus.60970 -
Pediatric Research Jun 2024Meta-analysis of randomized trials suggests that phototherapy is associated with patent ductus arteriosus (PDA). We hypothesized that chest shielding during phototherapy...
BACKGROUND
Meta-analysis of randomized trials suggests that phototherapy is associated with patent ductus arteriosus (PDA). We hypothesized that chest shielding during phototherapy would decrease the incidence of symptomatic PDA (sPDA) compared to sham shielding.
METHODS
A single center, double-blind, randomized, placebo-controlled trial was performed to evaluate the effect of chest shielding during phototherapy on sPDA in infants ≤ 29 weeks gestational age (GA) or with birth weight (BW) ≤ 1000 g. Infants were randomized to either chest shield (with aluminum foil, intervention group) or sham shield (without aluminum foil, control group) during phototherapy. The primary outcome was sPDA during the period 24 h after phototherapy initiation until 3 days after phototherapy cessation.
RESULTS
160 infants were randomized with 10 infants withdrawn from each group due to shield placement after phototherapy initiation. Of 140 infants analyzed, the mean GA and BW was 26.6 weeks and 872 g, respectively. There was no difference in the incidence of sPDA between the intervention (n = 70) and control group (n = 70) (10% vs 11%, respectively, adjusted odds ratio 0.78, 95% CI:0.33-1.82; p = 0.57).
CONCLUSIONS
Chest shielding during phototherapy had no effect on sPDA in infants ≤ 29 weeks GA or with BW ≤ 1000 g.
TRIAL REGISTRATION
http://clinicaltrials.gov , Identifier: NCT02552927.
IMPACT
Meta-analysis of randomized clinical trials suggests that chest shielding during phototherapy used for hyperbilirubinemia may decrease the incidence of patent ductus arteriosus. The effect of chest shielding during phototherapy on symptomatic patent ductus arteriosus has not been evaluated in a double-blind randomized trial. In this double-blind, randomized, placebo-controlled trial, chest shielding during phototherapy was not associated with a decreased incidence of symptomatic patent ductus arteriosus in premature infants.
PubMed: 38909157
DOI: 10.1038/s41390-024-03310-4 -
Pediatric Cardiology Jun 2024The ideal follow-up of neonates who have a secundum atrial septal defect (ASD), muscular ventricular septal defect (VSD), or patent ductus arteriosus (PDA) remains...
The ideal follow-up of neonates who have a secundum atrial septal defect (ASD), muscular ventricular septal defect (VSD), or patent ductus arteriosus (PDA) remains uncertain. Newborns with findings limited to a secundum ASD, muscular VSD, and/or PDA on their neonatal hospitalization discharge echocardiogram and at least one outpatient follow-up echocardiogram performed between 9-1-17 and 9-1-21 were evaluated and patient follow-up assessed through 9-1-23. 95 infants met inclusion criteria. 43 infants had a secundum ASD, 41 had a muscular VSD, and 54 had a PDA at newborn hospital discharge. 39/95 had more than one intracardiac shunt. 56 were discharged from care, 26 were still in follow-up and 13 were lost to recommended follow-up. No patients received intervention during the follow-up period of 2 to 6 years. Of the 43 infants with a secundum ASD, 16 (37.2%) had demonstrated closure of the ASD, and 13 (30.2%) were discharged from care with an ASD < 3.5 mm in diameter. 3/43 infants with secundum ASD had a defect with a diameter of more than 5 mm at their last echocardiogram. No infant discharged from their neonatal hospitalization with a secundum ASD, muscular VSD, or PDA needed any intervention from 2 to 6 years of follow-up. Ongoing follow-up with echocardiography of those infants with a secundum ASD is of greater value than of those with muscular VSD or PDA.
PubMed: 38907870
DOI: 10.1007/s00246-024-03537-2 -
Pediatric Cardiology Jun 2024A patient was delivered at 26 weeks (about 6 months) gestation via an emergency caesarian section. A patent ductus arteriosus (PDA) and atrial septal defect (ASD) were...
A patient was delivered at 26 weeks (about 6 months) gestation via an emergency caesarian section. A patent ductus arteriosus (PDA) and atrial septal defect (ASD) were discovered during an echocardiogram 13 days after birth. The patient had catheter-based closure of the PDA and ASD. During a routine echocardiogram to check device placements, it was discovered that there was dilation of the superior vena cava (SVC), and it was suspected that a thrombus was present. Computed tomography angiography (CTA) was completed to better define SVC anatomy and flow acceleration. The CTA demonstrated that there was a double innominate vein.
PubMed: 38907036
DOI: 10.1007/s00246-024-03552-3 -
Cureus May 2024Congenital complete heart block (CCHB) is a rare and potentially life-threatening condition, often associated with maternal autoantibodies. We present the case of a...
Congenital complete heart block (CCHB) is a rare and potentially life-threatening condition, often associated with maternal autoantibodies. We present the case of a one-year-old girl with recurrent respiratory symptoms, ultimately diagnosed with CCHB and congenital heart disease. She exhibited bradycardia and signs of congestive heart failure. A diagnostic workup revealed significant cardiac abnormalities, including dilated chambers, ventricular septal defect, and patent ductus arteriosus. Serological tests for maternal autoantibodies were negative. The child's parents opted for discharge without surgical intervention. This case underscores the importance of comprehensive evaluation and management strategies in patients with congenital heart block, particularly in resource-limited settings.
PubMed: 38903295
DOI: 10.7759/cureus.60720 -
Pediatric Research Jun 2024Premature infants are at risk for developing pulmonary hypertension (PH) in the context of bronchopulmonary dysplasia (BPD). Studies suggest a potential link between...
BACKGROUND
Premature infants are at risk for developing pulmonary hypertension (PH) in the context of bronchopulmonary dysplasia (BPD). Studies suggest a potential link between prolonged patent ductus arteriosus (PDA) exposure and BPD-PH, though management strategies remain controversial.
METHODS
Retrospective echocardiographic evaluation of newborns <29 weeks gestational age with BPD at two distinct centers. Primary objective was to evaluate the relationship between center-specific PDA management strategies (interventional or conservative) and the prevalence of BPD-PH. BPD was defined as oxygen or respiratory support at 36 weeks post-menstrual age (PMA). The presence of PH was defined as either an estimated sPAP of ≥40 mmHg or sEI ≥1.3. Center A has a conservative PDA policy. Center B has a targeted interventional policy.
RESULTS
PH rates were similar between sites (21% vs 17%), while rates of PDA treatment was different (7% vs 81). Adjusted models did not demonstrate an association for center or PDA treatment exposure for PH and EI, although infants from Center A had echocardiography evidence of higher systolic eccentricity index (EI; 1.12 ± 0.19 vs 1.06 ± 0.15, p = 0.04). Markers of RV function (TAPSE and RV-FAC) were similar between groups.
CONCLUSION
In preterm infants <29 weeks with BPD, conservative PDA treatment policy was not associated with higher rate of pulmonary hypertension diagnosis.
IMPACT
The association between PDA-management approaches and the occurrence of BPD-associated pulmonary vascular disease in premature infants has sparsely been described. We found that a conservative policy, regarding the PDA, was not associated with an increase in pulmonary hypertension diagnosis. We identified that, in patients with BPD, echocardiographic metrics of LV performance were lower.
PubMed: 38898108
DOI: 10.1038/s41390-024-03321-1 -
Journal of Clinical Medicine May 2024: Transcatheter interventions are increasingly used in children with congenital heart disease. However, these interventions can affect cardiac output and cerebral...
: Transcatheter interventions are increasingly used in children with congenital heart disease. However, these interventions can affect cardiac output and cerebral circulation. In this pilot study, we aimed to investigate the use of NeoDoppler, a continuous transfontanellar cerebral Doppler monitoring system, to evaluate the impact of transcatheter interventions on cerebral circulation. : Nineteen participants under one year of age (mean age 3.5 months) undergoing transcatheter cardiac interventions were prospectively included. Transfontanellar cerebral Doppler monitoring with the NeoDoppler system was initiated after intubation and continued until the end of the procedure. : Instant detection of changes in cerebral blood flow were observed across a spectrum of transcatheter interventions. Balloon aortic valvuloplasty demonstrated temporary cessation of cerebral blood flow during balloon inflation. Increase in cerebral diastolic blood flow velocity and decreased pulsatility were observed during patent ductus arteriosus occlusion. Changes in cerebral blood flow patterns were detected in two patients who encountered complications during their transcatheter interventions. There was no significant change in Doppler parameters before and after the interventions for the entire patient group. High quality recordings were achieved in 87.3% of the monitoring period. : Continuous transfontanellar cerebral Doppler is feasible in monitoring cerebral hemodynamic trends and shows instantaneous changes associated with interventions and complications. It could become a useful monitoring tool during transcatheter interventions in infants.
PubMed: 38892827
DOI: 10.3390/jcm13113115 -
Nutrients May 2024The nutrition of preterm infants remains contaminated by wrong beliefs that reflect inexactitudes and perpetuate old practices. In this narrative review, we report... (Review)
Review
The nutrition of preterm infants remains contaminated by wrong beliefs that reflect inexactitudes and perpetuate old practices. In this narrative review, we report current evidence in preterm neonates and in preterm neonates undergoing surgery. Convictions that necrotizing enterocolitis is reduced by the delay in introducing enteral feeding, a slow advancement in enteral feeds, and the systematic control of residual gastric volumes, should be abandoned. On the contrary, these practices prolong the time to reach full enteral feeding. The length of parenteral nutrition should be as short as possible to reduce the infectious risk. Intrauterine growth restriction, hemodynamic and respiratory instability, and patent ductus arteriosus should be considered in advancing enteral feeds, but they must not translate into prolonged fasting, which can be equally dangerous. Clinicians should also keep in mind the risk of refeeding syndrome in case of high amino acid intake and inadequate electrolyte supply, closely monitoring them. Conversely, when preterm infants undergo surgery, nutritional strategies are still based on retrospective studies and opinions rather than on randomized controlled trials. Finally, this review also highlights how the use of adequately fortified human milk is strongly recommended, as it offers unique benefits for immune and gastrointestinal health and neurodevelopmental outcomes.
Topics: Humans; Infant, Newborn; Infant, Premature; Infant Nutritional Physiological Phenomena; Milk, Human; Enteral Nutrition; Enterocolitis, Necrotizing; Parenteral Nutrition; Food, Fortified
PubMed: 38892652
DOI: 10.3390/nu16111719 -
Advances in Experimental Medicine and... 2024d-Transposition of the great arteries (d-TGA) is the most common form of congenital heart disease that presents with cyanosis in a newborn. The aorta arises from the... (Review)
Review
d-Transposition of the great arteries (d-TGA) is the most common form of congenital heart disease that presents with cyanosis in a newborn. The aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle. It constitutes 3-5% of all congenital heart defects. In a simple d-TGA (about two-thirds of patients), there is no other cardiac abnormality other than a patent foramen ovale (PFO) and a patent ductus arteriosus (PDA). In a complex d-TGA additional cardiac abnormalities such as VSD, pulmonary stenosis or coronary abnormalities are present. About one-third to 40% of patients with d-TGA have an associated ventricular septal defect. Among patients with d-TGA, 6% of those with intact ventricular septum and 31% of those with ventricular septal defect have associated pulmonary stenosis. Coronary abnormalities are of importance with regard to the complexity of surgical repair.
Topics: Transposition of Great Vessels; Humans; Infant, Newborn; Heart Septal Defects, Ventricular; Cardiac Surgical Procedures; Pulmonary Valve Stenosis
PubMed: 38884740
DOI: 10.1007/978-3-031-44087-8_38