Lung ultrasound in the evaluation of pulmonary edema in newborns with critical congenital heart disease.

BACKGROUND: Newborns with critical congenital heart disease (CCHD) with increased pulmonary blood flow (PBF) are at high risk for congestive heart failure. In this study, we aimed to evaluate the presence and degree of pulmonary edema in newborns with CCHD using lung ultrasound (LUS) during the perioperative period. METHODS: Prospective clinical trial, 44 newborn patients with CCHD were evaluated in this prospective clinical trial. LUS was repeatedly performed to determine the course of pulmonary edema during the perioperative period. LUS was performed simultaneously with chest radiography (CXR), which was the main part of patient management. The primary outcome of this study was to identify whether a correlation existed between LUS and CXR findings. The secondary outcomes were to determine the relationship between LUS and the need for respiratory support, diuretic use, vasoactive inotropic score (VIS), and pro-B-type natriuretic peptide (pro-BNP) levels during the perioperative period. RESULTS: The mean gestational age of the patients was 38.3 ± 1.7 weeks, with a mean birth weight of 3026 ± 432 g. In the preoperative period, both LUS and CXR images were consistent with clinical signs of pulmonary edema. On the first postoperative day, pulmonary edema increased compared to the preoperative period but gradually decreased by the 6th day of surgery (p < 0.05). Positive correlations were observed between the LUS and CXR findings at all study points (p < 0.05). The LUS findings exhibited trends parallel to those of VIS, serum pro-BNP levels, need for respiratory support, and diuretic requirements. As expected, these trends were more pronounced in CCHDs where PBF increased. CONCLUSION: In CCHD, serial lung ultrasound (LUS) assessments, particularly in cases with increased PBF, can provide valuable guidance for managing patients during the perioperative period.

A Case of Pulmonary Artery Sling Anomaly with Tracheal Stenosis and Management of Difficult Airway.

Pulmonary artery sling is a rare congenital vascular abnormality, where the left pulmonary artery originates from the right pulmonary artery, passes between trachea, and esophagus and reaching the left hilum. Cough, wheezing, and difficulty in feeding are three major symptoms. Untreated pulmonary sling carries high morbidity and mortality, most of which is due to the airway and other associated anomalies. Herein, we reported a 40-day-old male infant who admitted to the pediatric intensive care unit with progressive respiratory distress and diagnosed with left pulmonary sling with tracheal stenosis. We discussed the diagnosis and management of pulmonary artery sling and present the successful use of laryngeal mask in difficult airway management.

Relationship between non-cardiac chest pain and internalizing problems in pre-school aged children.

OBJECTIVE: Non-cardiac chest pain is a common and persistent problem for children; yet, typically, there is no clear medical cause. To date, no behavioural and/or psychological factors have been studied to explain chest pain in a pre-school paediatric sample. We hypothesized that pre-school children with medically unexplained chest pain would have higher rates of behavioural problems compared to healthy controls. METHODS: We assessed 41 pre-school children with non-cardiac chest pain and 68 age matched children with benign heart murmurs as the control group using the Child Behaviour Check List-1 1/2-5 to evaluate emotional and behavioural problems. RESULTS: Internalizing problem scores comprising emotionally reactive, anxiety/depression, and somatic complaints were higher in children with non-cardiac chest pain than in the control group. Among the possible factors, the factor that is related to behaviour problem scores, in univariate analysis, was a significant and inverse correlation between maternal education and behaviour problem scores. Also, maternal employment status was associated with behavioural problems. Children with a housewife mother were more susceptible to having such behavioural problems. Based on multiple regression analyses, being in the non-cardiac chest pain group was found to be significantly related to internalizing problems in our total sample. CONCLUSIONS: These results suggest that pre-school children with non-cardiac chest pain may experience increased levels of certain behavioural comorbidities. Systematic behavioural screening could increase the detection of behavioural problems and improve care for this population. Future studies of non-cardiac chest pain in pre-school children should include larger samples and comprehensive diagnostic assessments as well as long-term follow-up evaluations.

Single right coronary artery with right ventricular fistula and congenital absence of left coronary artery: an extremely rare combination.

We report an extremely rare case of a 14-month-old girl who was diagnosed with a single right coronary artery with coronary artery fistula communicating with the right ventricle and congenital absence of left coronary artery. Angiography showed a dilated and tortuous single right coronary artery draining into the right ventricle, absence of left coronary system, and left ventricular coronary circulation supplied via collateral vessels.

True aneurysmal dilatation of a valved bovine jugular vein conduit after right ventricular outflow tract reconstruction: a rare complication.

Valved bovine jugular vein conduit is considered a suitable choice for paediatric population with congenital heart defect requiring right ventricle to main pulmonary artery connection. However, complications related to the use of this device have been reported, with conduit failure occurring mainly as a consequence of stenosis, conduit thrombosis, and valve regurgitation. We present a case of aneurysmal conduit failure of a valved bovine jugular vein conduit used to reconstruct the right ventricular outflow tract.

Sensitive Cardiac Troponins: Could They Be New Biomarkers in Pediatric Pulmonary Hypertension Due to Congenital Heart Disease?

To analyze the role of sensitive cardiac troponin I (scTnI) and high-sensitive troponin T (hscTnT) in the determination of myocardial injury caused by volume and pressure load due to pulmonary hypertension (PH) and to investigate if these markers may be useful in the management of PH in childhood. Twenty-eight patients with congenital heart disease (CHD) with left to right shunt and PH, 29 patients with CHD with left to right shunt but without PH, and 18 healthy children, in total 75 individuals, were included in the study. All cases were aged between 4 and 36 months. Echocardiographic evaluation was performed in all cases, and invasive hemodynamic investigation was performed in 33 cases. Blood samples were obtained from all cases, for the measurement of brain natriuretic peptide (BNP), pro-brain natriuretic peptide (pro-BNP), sensitive cardiac troponin I (scTnI), and high-sensitive troponin T (hscTnT) levels. The mean BNP, pro-BNP, scTnI, and hsTnT levels were statistically significantly higher in patients with PH than in the patients without PH (p < 0.001). A statistically significant positive correlation was determined between pulmonary artery systolic pressure and scTnI and hscTnT levels (r = 0.34 p = 0.01, r = 0.46 p < 0.001, respectively) levels. Pulmonary hypertension determined in congenital heart diseases triggers myocardial damage independently of increased volume or pressure load and resistance, occurring by disrupting the perfusion via increasing ventricular wall tension and the myocardial oxygen requirement. Serum scTnI and hscTnT levels may be helpful markers to determine the damage associated with PH in childhood.

Do toxic metals and trace elements have a role in the pathogenesis of conotruncal heart malformations?

OBJECTIVE: The aim of the present study was to determine the role of toxic elements and trace elements in the pathogenesis of conotruncal heart defects by measuring their concentrations in the first meconium specimens of the affected newborns. METHODS: Concentrations of lead, cadmium, iron, zinc, and copper were measured in 1st-day meconium specimens that were collected from 60 newborns with conotruncal heart defects (Group I) and 72 healthy newborns (Group II). RESULTS: The newborns with conotruncal defects and the healthy newborns had statistically similar demographic and clinical characteristics. When compared with healthy newborns, mean concentrations of lead, cadmium, iron, zinc, and copper were significantly higher in newborns with conotruncal heart defects (p=0.001 for each). In total, 51 newborns with conotruncal heart defects had normal karyotype. These newborns had significantly higher concentrations of lead, cadmium, iron, zinc, and copper when compared with healthy newborns. There were significant and positive correlations between the concentrations of lead and cadmium (r=0.618, p=0.001), lead and iron (r=0.368, p=0.001), lead and zinc (r=0.245, p=0.005), lead and copper (r=0.291, p=0.001), cadmium and iron (r=0.485, p=0.001), cadmium and zinc (r=0.386, p=0.001), and cadmium and copper (r=0.329, p=0.001). CONCLUSION: Toxic metals and trace elements may disturb DNA repair mechanisms by impairing DNA methylation profiles, and thus have a role in the pathogenesis of conotruncal heart defects.

An evaluation of heart rate variability and its modifying factors in children with type 1 diabetes.

OBJECTIVE: To evaluate heart rate variability by Holter monitoring in type 1 diabetic children compared with a healthy control group and determine the factors modifying heart rate variability. METHODS: This was designed as a prospective study comparing 28 patients, diagnosed with type 1 diabetes and under follow-up, with 27 healthy control group subjects. RESULTS: The patients were aged 9.9 ± 4.2 years in the diabetic group, including 13 (46.5%) girls and 15 (53.5%) boys. The healthy control group comprised 20 (74%) girls and seven boys (26%) with an average age of 8.6 ± 3.7 years. The search for factors modifying heart rate variability yielded the following correlations: for the time-dependent variables, negative between age and both average and maximal heart rate (r = -0.263 and -0.460, respectively), negative between haemoglobin A1c and percentage of differences between adjacent RR intervals >50 ms, positive between diabetes duration and square root of the mean of the sum of squares of differences between adjacent NN intervals. The average heart rate and percentage of differences between adjacent RR intervals >50 ms was significantly higher in the girls than the boys in all groups. With regard to the frequency-dependent factors affecting heart rate variability, correlations were found between haemoglobin A1c level and both total power and very low frequency (r = -0.751 and -0.644) and between very low frequency and diabetes duration. CONCLUSION: A reduction in heart rate variability parameters was observed in type 1 diabetes mellitus patients who had a long disease duration or were poorly controlled, as compared with healthy controls.

Transcatheter occlusion of tortuous feeding vessel with new vascular plug in an infant with pulmonary sequestration with Scimitar syndrome.

We report the case of a 9-month-old girl with a Scimitar syndrome which was feeding via an anomalous vessel dividing into three tortuous branches and supplying blood to a localized region of the right lower lobe which was successfully occluded using an Amplatzer® Vascular Plug 4 (AGA Medical, Golden Valley, MN, USA). The percutaneous procedure performed via femoral artery, provided an immediate closure of the vessel, excluding the need for surgical repair. This new device is found to be safe and effective for occlusion of the collaterals, especially large ones in pediatric ages.

A new syndrome within the oculo-auriculo-vertebral spectrum: microtia, atresia of the external auditory canal, vertebral anomaly, and complex cardiac defects.

We describe a patient whose features represent a new entity within the oculo-auriculo-vertebral spectrum. The boy had right microtia, atresia of the external auditory canal, growth retardation, a complex heart defect, and extra-lobar pulmonary sequestration. The cardiac anomalies were persistent left superior vena cava, aortic stenosis, bicuspid aortic valves and subaortic membrane. Spinal films revealed complete fusion of the C2-C3 and C5-C6 vertebrae, and scoliosis of the lumbar spine. The patient's mental development was normal, and there were no abnormalities on ophthalmological examination. This report, reviews features of similar published cases, and argues why this may represent a 'new' entity within the oculo-auriculo-vertebral spectrum. The cardinal features are microtia, atresia of the external auditory canal, complex cardiac defects, growth retardation, normal mental and motor development in most cases and vertebral anomalies. All six of the patients reviewed were male raising the possibility of X-linked inheritance.

Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.

The orphan nuclear receptor steroidogenic factor-1 (SF-1, NR5A1) regulates the transcription of multiple genes involved in steroidogenesis, reproduction, and male sexual differentiation. A heterozygous loss-of-function SF-1 mutation (G35E) has been described in a patient with adrenal failure and complete 46XY sex-reversal, indicating that haploinsufficiency of this factor is sufficient to cause a severe clinical phenotype. This mutation in the P-box region of the DNA-binding domain markedly impairs SF-1 binding to most response elements. In an infant with a similar clinical phenotype, we identified an SF-1 mutation (R92Q) in a highly conserved residue of the A-box, a region that functions as a secondary DNA-binding domain. Strikingly, the affected infant was homozygous for the R92Q mutation, but three relatives (parents, sister) were phenotypically normal despite being heterozygous for the mutation. In functional assays, the R92Q mutant exhibited partial loss of DNA binding and transcriptional activity when compared with the G35E P-box change, consistent with its phenotypic expression only when transmitted as a homozygous trait. Taken together, these two naturally-occurring SF-1 mutations reveal the relative functional importance of the P-box and A-box regions for monomeric binding by nuclear receptors. In addition, these patients reveal the exquisite sensitivity of SF-1-dependent developmental pathways to gene dosage and function in humans.