Introduction: Congenital diaphragmatic hernia (CDH) has a well-known risk of congenital heart defects with poor prognosis. This study was conducted to determine the national total prevalence and prenatal detection rates of CDH with heart defects and its association with major extra-cardiac malformations and to further evaluate the impact of the heart defect severity on survival.
Material And Methods: A 10-year national cohort was derived from four national registries, including live births, stillbirths, and terminations of pregnancy for fetal anomalies. The study cohort was sorted according to cardiac defect severity.
Results: The total prevalence of CDH with heart defects was 0.6/10 000 births and live birth prevalence 0.3/10 000 live births. Of 145 cases with CDH, 37 (26%) had a concurrent heart defect. The overall prenatal detection rate of heart defects was 41%. The total prevalence (483/10 000) and live birth prevalence (500/10 000) of hypoplastic left heart syndrome were 124 and 250 times higher than in the general population in Finland, respectively. Additional major extra-cardiac malformations were found in 68% of cases. The survival rate for CDH with major heart defects was 11 and 38% with minor heart defects.
Conclusions: The total prevalence of hypoplastic left heart syndrome was significantly higher in CDH patients than in the general population in Finland. Prenatal detection rate for heart defects in CDH patients was 41%. Major extra-cardiac malformations were more common than previously reported. The prognosis of CDH with major heart defects remained poor.
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http://dx.doi.org/10.1111/aogs.13274 | DOI Listing |
Echocardiography
January 2025
Radiology Department, Liverpool Heart and Chest Hospital NHS Foundation Trust, Liverpool, UK.
Optimal management of adult congenital heart disease (ACHD) requires a multidisciplinary team (MDT) approach, fostering a collaborative culture over an individualistic approach. Within this framework, subspecialty-trained radiologists provide crucial imaging expertise, supporting cardiologists, surgeons, and interventional cardiologists in diagnoses, treatment planning, and follow-up evaluations. Advanced imaging tools and a nuanced understanding of surgical and interventional procedures enable radiologists to provide valuable insights to clinicians.
View Article and Find Full Text PDFJAMA Netw Open
January 2025
Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora.
Importance: A recent advisory from the American Heart Association delineated the potential benefits of developmental care for hospitalized children with congenital heart disease (CHD) and a critical gap in research evaluating the association of such inpatient programs with neurodevelopmental outcomes.
Objective: To investigate associations between the Cardiac Inpatient Neurodevelopmental Care Optimization (CINCO) program interventions, delirium, and neurodevelopment in young children (newborn through age 2 years) hospitalized with CHD.
Design, Setting, And Participants: This cohort study used quality improvement data from inpatient cardiac units at a tertiary care children's hospital in the US.
J Biomed Mater Res B Appl Biomater
February 2025
McGowan Institute for Regenerative Medicine, Pittsburgh, Pennsylvania, USA.
Cardiovascular diseases (CVDs) were responsible for approximately 19 million deaths in 2020, marking an increase of 18.7% since 2010. Biological decellularized patches are common therapeutic solutions for CVD such as cardiac and valve defects.
View Article and Find Full Text PDFFASEB J
January 2025
Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Congenital heart disease (CHD) represents a major birth defect associated with substantial morbidity and mortality. Although environmental factors are acknowledged as potential contributors to CHD, the underlying mechanisms remain poorly understood. Bisphenol A (BPA), a common endocrine disruptor, has attracted significant attention due to its widespread use and associated health risks.
View Article and Find Full Text PDFCells
January 2025
Department of Pediatrics, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul 06591, Republic of Korea.
Turner syndrome (TS) can be determined by karyotype analysis, marked by the loss of one X chromosome in females. However, the genes involved in autoimmunity in TS patients remain unclear. In this study, we aimed to analyze differences in immune gene expression between a patient with TS, a healthy female, and a female patient with Graves' disease using single-cell RNA sequencing (scRNA-seq) analysis of antigen-specific CD4(+) T cells.
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