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BMC Pregnancy and Childbirth May 2024To explore a method for screening and diagnosing neonatal congenital heart disease (CHD) applicable to grassroots level, evaluate the prevalence of CHD, and establish a...
A "twelve-section ultrasonic screening and diagnosis method" and management system for screening and treating neonatal congenital heart disease at the grassroots level in Tang County, Hebei Province, China.
BACKGROUND
To explore a method for screening and diagnosing neonatal congenital heart disease (CHD) applicable to grassroots level, evaluate the prevalence of CHD, and establish a hierarchical management system for CHD screening and treatment at the grassroots level.
METHODS
A total of 24,253 newborns born in Tang County between January 2016 and December 2020 were consecutively enrolled and screened by trained primary physicians via the "twelve-section ultrasonic screening and diagnosis method" (referred to as the "twelve-section method"). Specialized staff from the CHD Screening and Diagnosis Center of Hebei Children's Hospital regularly visited the local area for definite diagnosis of CHD in newborns who screened positive. Newborns with CHD were managed according to the hierarchical management system.
RESULTS
The centre confirmed that, except for 2 newborns with patent ductus arteriosus missed in the diagnosis of ventricular septal defect combined with severe pulmonary hypertension, newborns with other isolated or concomitant simple CHDs were identified at the grassroots level. The sensitivity, specificity and diagnostic coincidence rate of the twelve-section method for screening complex CHD were 92%, 99.6% and 84%, respectively. A total of 301 children with CHD were identified. The overall CHD prevalence was 12.4‰. According to the hierarchical management system, 113 patients with simple CHD recovered spontaneously during local follow-up, 48 patients continued local follow-up, 106 patients were referred to the centre for surgery (including 17 patients with severe CHD and 89 patients with progressive CHD), 1 patient died without surgery, and 8 patients were lost to follow-up. Eighteen patients with complex CHD were directly referred to the centre for surgery, 3 patients died without surgery, and 4 patients were lost to follow-up. Most patients who received early intervention achieved satisfactory results. The mortality rate of CHD was approximately 28.86 per 100,000 children.
CONCLUSIONS
The "twelve-section method" is suitable for screening neonatal CHD at the grassroots level. The establishment of a hierarchical management system for CHD screening and treatment is conducive to the scientific management of CHD, which has important clinical and social significance for early detection, early intervention, reduction in mortality and improvement of the prognosis of complex and severe CHDs.
Topics: Humans; Heart Defects, Congenital; Infant, Newborn; China; Neonatal Screening; Female; Male; Prevalence; Sensitivity and Specificity
PubMed: 38750445
DOI: 10.1186/s12884-024-06569-x -
Texas Heart Institute Journal May 2024Turner syndrome is a genetic disorder that occurs in female individuals and is characterized by the absence of 1 of the X chromosomes. This study examined the risk of...
BACKGROUND
Turner syndrome is a genetic disorder that occurs in female individuals and is characterized by the absence of 1 of the X chromosomes. This study examined the risk of cardiovascular disease and inpatient clinical outcomes in patients with Turner syndrome.
METHODS
Data were extracted from the Nationwide Inpatient Sample 2016 database. Propensity score analysis was used to match women with Turner syndrome and women without Turner syndrome admitted to a hospital in the same year to evaluate the risk of cardiovascular disease and inpatient clinical outcomes in patients with Turner syndrome.
RESULTS
After 1:1 matching, 710 women with Turner syndrome and 710 women without Turner syndrome were included in the final analysis. Compared with women without Turner syndrome, women with Turner syndrome were more likely to have a bicuspid aortic valve (9.4% vs 0.01%; P < .01), coarctation of the aorta (5.8% vs 0.3%; P < .01), atrial septal defect (6.1% vs 0.8%; P < .01), and patent ductus arteriosus (4.6% vs 0.6%; P < .01). Patients with Turner syndrome were more likely to have an aortic aneurysm (odds ratio [OR], 2.46 [95% CI, 1.02-5.98]; P = .046), ischemic heart disease (OR, 1.66 [95% CI, 1.10-2.5]; P = .02), heart failure (OR, 3.15 [95% CI, 1.99-4.99]; P < .01), and atrial fibrillation or flutter (OR, 2.48 [95% CI, 1.42-4.34]; P < .01). Patients with Turner syndrome were more likely to have pulmonary arterial hypertension (OR, 2.12 [95% CI, 1.08-4.14]; P = .03) and acute kidney injury (OR, 1.60 [95% CI, 1.06-2.42]; P = .03) and to require mechanical ventilation (OR, 1.66 [95% CI, 1.04-2.68]; P = .04).
CONCLUSION
Turner syndrome is associated with an increased rate of cardiovascular disease and inpatient complications. These findings suggest that patients with Turner syndrome should be screened and monitored closely for cardiovascular disease and inpatient complications.
Topics: Humans; Turner Syndrome; Female; Propensity Score; Cardiovascular Diseases; Adult; Retrospective Studies; United States; Middle Aged; Risk Factors; Inpatients; Risk Assessment; Incidence; Follow-Up Studies; Young Adult
PubMed: 38748548
DOI: 10.14503/THIJ-23-8245 -
Cureus Apr 2024This retrospective study addresses the intersection of Down syndrome (DS) and congenital heart defects (CHD), including the prevalence and characteristics of CHD in...
This retrospective study addresses the intersection of Down syndrome (DS) and congenital heart defects (CHD), including the prevalence and characteristics of CHD in trisomy 21 patients at a secondary hospital in the Eastern Province of Saudi Arabia. The study investigated the electronic medical records retrieved from the Qatif Central Hospital database, specifically targeting individuals diagnosed with DS (identified by the International Classification of Diseases, Tenth Revision (ICD-10) code Q90.9) between March 2012 and March 2022. The primary aim was to detect cardiac anomalies diagnosed via echocardiography performed at the hospital, along with subsequent follow-up assessments and documented patient outcomes. Among the 161 patients reviewed, the study revealed a significant prevalence of diagnosed heart defects through echocardiograms, constituting approximately 72.7%. Notably, patent ductus arteriosus was the most common condition, found in 29.81% of cases, followed by atrial septal defect (27.95%) and atrioventricular septal defect (17.39%). Among the study participants, 22.98% required surgical intervention. Unfortunately, mortality impacted 32.3% of individuals, while the majority (60.87%) remained alive. In addition, a small percentage (6.83%) discontinued follow-up within our center. This study contributes significant data on cardiac anomalies in DS patients in Saudi Arabia, highlighting a high prevalence of CHD with specific patterns of anomalies. The need for early diagnosis, timely surgical intervention, and ongoing management is evident. These findings provide a foundation for improving clinical practices and shaping public health policies tailored to the needs of this population in Saudi Arabia and similar regions.
PubMed: 38738149
DOI: 10.7759/cureus.58058 -
Journal of Taibah University Medical... Jun 2024Trisomy 18 (also known as Edwards syndrome) is a chromosomal disorder characterized by severe developmental anomalies and cognitive deficits. Cardiac complications are a...
BACKGROUND
Trisomy 18 (also known as Edwards syndrome) is a chromosomal disorder characterized by severe developmental anomalies and cognitive deficits. Cardiac complications are a leading cause of mortality in these patients, and the role of cardiac interventions remains controversial.
CASE PRESENTATION
We report a case of a full-term baby girl with trisomy 18, born via elective cesarean section. The neonate presented with pulmonary atresia and a series of other cardiac abnormalities, necessitating immediate intervention. Despite the initial challenges, including a brief episode of desaturation post-intervention, the patient responded positively to a balloon pulmonary valvuloplasty and emergency patent ductus arteriosus stent insertion, illustrating the potential benefits of cardiac interventions in patients with trisomy 18.
DISCUSSION
This case highlights the successful application of cardiac interventions in a patient with trisomy 18, challenging the notion of universally denying such treatments to this population. Our findings suggest that selective interventions can improve quality of life and stabilize the condition, supporting the need for further research to establish clear guidelines for treatment in this demographic.
CONCLUSION
This case adds to the growing evidence supporting the feasibility and potential benefits of cardiac interventions in patients with trisomy 18, advocating for a more individualized approach to treatment.
PubMed: 38736899
DOI: 10.1016/j.jtumed.2024.04.003 -
Frontiers in Pediatrics 2024Prematurity and congenital heart disease (CHD) are the leading causes of neonatal mortality and morbidity. Limited data are available about the outcomes of premature...
BACKGROUND
Prematurity and congenital heart disease (CHD) are the leading causes of neonatal mortality and morbidity. Limited data are available about the outcomes of premature infants with severe CHD.
METHODS
We queried The National Inpatient Database using ICD-10 codes for premature patients (<37 weeks) with severe CHD from 2016 to 2020. Severe CHDs were grouped into three categories: A. left-sided lesions with impaired systemic output, B. Cyanotic CHD, and C. Shunt lesions with pulmonary overcirculation. Patients with isolated atrial or ventricular septal defects and patent ductus arteriosus were excluded. We also excluded patients with chromosomal abnormalities and major congenital anomalies. Patients' demographics, clinical characteristics, and outcomes were evaluated by comparing premature infants with vs. without CHD adjusting for gestational age (GA), birth weight, and gender.
RESULTS
A total of 27710 (1.5%) out of 1,798,245 premature infants had severe CHD. This included 27%, 58%, and 15% in groups A, B, and C respectively. The incidence of severe CHD was highest between 25 and 28 weeks of gestation and decreased significantly with increasing GA up to 36 weeks ( < 0.001). Premature infants with severe CHD had a significantly higher incidence of neonatal morbidities including necrotizing enterocolitis (NEC) [OR = 4.88 (4.51-5.27)], interventricular hemorrhage [OR = 6.22 (5.57-6.95)], periventricular leukomalacia [OR = 3.21 (2.84-3.64)] and bronchopulmonary dysplasia [OR = 8.26 (7.50-10.06) compared to preterm infants of similar GA without CHD. Shunt lesions had the highest incidence of NEC (8.5%) compared to 5.3% in cyanotic CHD and 3.7% in left-sided lesions ( < 0.001). Mortality was significantly higher in premature infants with CHD compared to control [11.6% vs. 2.5%, < 0.001]. Shunt lesions had significantly higher mortality (11.0%) compared to those with left-sided lesions (8.3%) and cyanotic CHD (6.4%), < 0.001.
CONCLUSION
Premature infants with severe CHD are at high risk of neonatal morbidity and mortality. Morbidity remains increased across all GA groups and in all CHD categories. This significant risk of adverse outcomes is important to acknowledge when managing this patient population and when counseling their families. Future research is needed to examine the impact of specific rather than categorized congenital heart defects on neonatal outcomes.
PubMed: 38725988
DOI: 10.3389/fped.2024.1326804 -
Frontiers in Pediatrics 2024To develop a predictive model for patent ductus arteriosus (PDA) in preterm infants at seven days postpartum. The model employs ultrasound measurements of the ductus...
A predictive model for patent ductus arteriosus seven days postpartum in preterm infants: an ultrasound-based assessment of ductus arteriosus intimal thickness within 24 h after birth.
OBJECTIVES
To develop a predictive model for patent ductus arteriosus (PDA) in preterm infants at seven days postpartum. The model employs ultrasound measurements of the ductus arteriosus (DA) intimal thickness (IT) obtained within 24 h after birth.
METHODS
One hundred and five preterm infants with gestational ages ranging from 27.0 to 36.7 weeks admitted within 24 h following birth were prospectively enrolled. Echocardiographic assessments were performed to measure DA IT within 24 h after birth, and DA status was evaluated through echocardiography on the seventh day postpartum. Potential predictors were considered, including traditional clinical risk factors, M-mode ultrasound parameters, lumen diameter of the DA (LD), and DA flow metrics. A final prediction model was formulated through bidirectional stepwise regression analysis and subsequently subjected to internal validation. The model's discriminative ability, calibration, and clinical applicability were also assessed.
RESULTS
The final predictive model included birth weight, application of mechanical ventilation, left ventricular end-diastolic diameter (LVEDd), LD, and the logarithm of IT (logIT). The receiver operating characteristic (ROC) curve for the model, predicated on logIT, exhibited excellent discriminative power with an area under the curve (AUC) of 0.985 (95% CI: 0.966-1.000), sensitivity of 1.000, and specificity of 0.909. Moreover, the model demonstrated robust calibration and goodness-of-fit ( value = 0.560, > 0.05), as well as strong reproducibility (accuracy: 0.935, Kappa: 0.773), as evidenced by 10-fold cross-validation. A decision curve analysis confirmed the model's broad clinical utility.
CONCLUSIONS
Our study successfully establishes a predictive model for PDA in preterm infants at seven days postpartum, leveraging the measurement of DA IT. This model enables identifying, within the first 24 h of life, infants who are likely to benefit from timely DA closure, thereby informing treatment decisions.
PubMed: 38725987
DOI: 10.3389/fped.2024.1388921 -
Saudi Journal of Kidney Diseases and... Nov 2023Acute kidney injury (AKI) is common in premature newborns and is associated with high mortality. It is unclear which risk factors lead to AKI in these neonates. We aimed...
Acute kidney injury (AKI) is common in premature newborns and is associated with high mortality. It is unclear which risk factors lead to AKI in these neonates. We aimed to determine the incidence, risk factors, and outcomes of AKI in preterm neonates in the neonatal intensive care unit (NICU). They were screened and staged for AKI as per the amended neonatal criteria of Kidney Disease Improving Global Outcomes and followed up until discharge or death. Serum creatinine levels and urine output were measured. The incidence of AKI was 18.5% (37/200 neonates). The majority developed non-oliguric AKI. The risk factors significantly associated with AKI in neonates were the presence of sepsis, birth asphyxia, shock, respiratory distress syndrome, and hypothermia. The majority of neonates with AKI had a birthweight <1500 g and a gestational age of <32 weeks and had a higher risk of mortality, in contrast to than those without AKI. Mortality and NICU stay were significantly higher among those with Stage 3 AKI compared with Stage 2 and Stage 1 AKI. To prevent AKI and reduce the burden of high mortality in premature neonates, it is essential to prevent sepsis, birth asphyxia, and respiratory distress syndrome, as well as to detect shock and patent ductus arteriosus as early as possible. There is a need for good antenatal care to reduce the burden of prematurity.
Topics: Humans; Infant, Newborn; Acute Kidney Injury; Risk Factors; India; Incidence; Female; Male; Infant, Premature; Intensive Care Units, Neonatal; Gestational Age; Infant, Premature, Diseases; Birth Weight; Asphyxia Neonatorum
PubMed: 38725209
DOI: 10.4103/sjkdt.sjkdt_264_23 -
Annals of Cardiac Anaesthesia Jan 2024The quadricuspid aortic valve is a rare congenital anomaly, usually associated with aortic regurgitation requiring surgical intervention. It may be associated with other...
The quadricuspid aortic valve is a rare congenital anomaly, usually associated with aortic regurgitation requiring surgical intervention. It may be associated with other congenital anomalies such as coronary anomalies, patent ductus arteriosus, ventricular septal defect, pulmonary stenosis, and subaortic stenosis. The diagnosis is generally established by either transthoracic or transesophageal echocardiography. Herein, we report a case of a 52-year-old woman who was diagnosed to have quadricuspid aortic valve by intraoperative transesophageal echocardiography.
Topics: Humans; Female; Aortic Valve; Middle Aged; Echocardiography, Transesophageal; Aortic Valve Insufficiency; Heart Defects, Congenital
PubMed: 38722121
DOI: 10.4103/aca.aca_110_23 -
BioRxiv : the Preprint Server For... Apr 2024P21-activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation,...
P21-activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic variants cause Knobloch syndrome type 2 (KNO2)-a developmental disorder primarily characterized by ocular anomalies. Here, we identified a novel heterozygous missense variant in NM_002577.4:c.1273G>A, p.(D425N), by whole genome sequencing in an individual with features consistent with KNO2. Notable clinical phenotypes include global developmental delay, congenital retinal detachment, mild cerebral ventriculomegaly, hypotonia, FTT, pyloric stenosis, feeding intolerance, patent ductus arteriosus, and mild facial dysmorphism. The p.(D425N) variant lies within the protein kinase domain and is predicted to be functionally damaging by analysis. Previous clinical genetic testing did not report this variant due to unknown relevance of variants at the time of testing, highlighting the importance of reanalysis. Our findings also substantiate the candidacy of variants in KNO2 and expand the KNO2 clinical spectrum.
PubMed: 38712026
DOI: 10.1101/2024.04.18.590108 -
Journal of Surgical Case Reports May 2024The aim of this study was to introduce an interventional heart catheterization to close patent ductus arteriosus (PDA), ventricular septal defect (VSD), atrial septal...
The aim of this study was to introduce an interventional heart catheterization to close patent ductus arteriosus (PDA), ventricular septal defect (VSD), atrial septal defect (ASD), and pulmonary hypertension without complications from open heart surgery and a 3-day hospitalization period. PDA, VSD, and ASD are among the most common abnormalities associated with various complications. This case is a 3.5-year-old girl with frequent lung infections and Failure to thrive. Treatment in the first stage aims to close the PDA using Amplatzer ADO II type AGA, size 5-6 mm and ASD using Amplatzer Septal Occluder size 15 mm. The patient was discharged the next day. Six months later, a successful interventional closure of the VSD was performed using Lifetech Symmetric Amplatzer membranous size 12 mm and patient was discharged 2 days after. All these defects were corrected without open heart surgery and the need for long-term Intensive care unitsadmission.
PubMed: 38706483
DOI: 10.1093/jscr/rjae161