Introduction: Managing risk is central to clinical care, yet most research focuses on patient perception, as opposed to how risk is enacted within the clinical setting by healthcare professionals.
Aim: To explore how surgical risk is perceived, encountered, and managed by congenital cardiac surgeons.
Methods: Semi-structured interviews were conducted with 20 congenital cardiac surgeons representing every unit across England and Wales. All interviews were transcribed verbatim, with analysis based on the constant comparative approach.
Findings: Three themes were identified, reflecting the interactions between personal, institutional, and political context in which risk is encountered and managed. First, "communicating risk" highlights the complexity and variability in methods employed by surgeons to balance legal/moral obligations with parental need and expectations. Universally, surgeons described the need for flexibility in their approach in order to meet the needs of individual patients. Second, "scrutiny and accountability" captures the spectrum of opinion arising from the binary nature of the outcomes collated and the way in which they are perceived to be interpreted. Third, "nature of the job" highlights the personal and professional implications of conveying and managing risk and the impact of recent policy changes on the way this is enacted.
Conclusion: Variations in approaches to communicating risk demonstrate a lack of consensus, compounded by insufficient evidence to determine or monitor a "best-care" approach. With current surgical outcomes suggesting little room for increasing survival rates, future care needs should shift to the "soft skills" in order to continue to drive improvements in parental and patient experience.
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http://dx.doi.org/10.1017/S1047951121001724 | DOI Listing |
BMC Pediatr
January 2025
Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, 123 Tianfei Alley, Nanjing, 210004, People's Republic of China.
Background: Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. Heterozygous mutations in the MEIS2 gene cause an autosomal dominant syndrome characterized by intellectual disability, cleft palate, congenital heart defect, and facial dysmorphism at variable severity and penetrance.
Case Presentation: Herein, we report a Chinese girl with intellectual disability, developmental delay, and congenital heart defect, in whom G-banded karyotype analysis identified a de novo paracentric inversion 46,XX, inv(15)(q15q26.
Heart
January 2025
Centre for Congenital Heart Diseases, University Medical Centre Groningen, Groningen, Netherlands
Heart Rhythm
January 2025
Department of Coronary Artery Disease and Cardiac Rehabilitation, National Institute of Cardiology, Warsaw, Poland.
Background: Sudden cardiac arrest (SCA) risk stratification in patients with mitral valve prolapse (MVP) may be complicated by other potential causes of arrhythmia.
Objectives: We aimed to characterize SCA survivors with isolated (iMVP) and non-isolated MVP (non-iMVP) and to assess their long-term follow-up.
Methods: This ambispective study included 75 patients with MVP who experienced SCA and were treated in our center between 2009-2024.
J Clin Endocrinol Metab
January 2025
IMAGINE Institute Affiliate, INSERM U1163, Paris, France.
Context: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and is chiefly caused by thyroid dysgenesis (CHTD). The inheritance mode of the disease remains complex.
Objectives: Gain insight into the inheritance mode of CHTD.
Dev Growth Differ
January 2025
Division of Anatomy and Developmental Biology, Department of Anatomy, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Sonic Hedgehog (Shh), encoding an extracellular signaling molecule, is vital for heart development. Shh null mutants show congenital heart disease due to left-right asymmetry defects stemming from functional anomaly in the midline structure in mice. Shh signaling is also known to affect cardiomyocyte differentiation, endocardium development, and heart morphogenesis, particularly in second heart field (SHF) cardiac progenitor cells that contribute to the right ventricle, outflow tract, and parts of the atrium.
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