Introduction: Congenital diaphragmatic (CDH) hernia is a rare congenital malformation with considerable mortality and morbidity in the neonatal period. The majority of the children today survive but little is known about long term cardiovascular morbidity.
Material And Methods: This was a nationwide population-based prospective case-control study within a cohort of Swedish children with CDH, born 1982-2015. Five controls for each patient were randomly sampled from the population. The outcomes were the corresponding International Statistical Classification of Disease (ICD) codes for cardiovascular diagnoses according to ICD 9 and 10.
Results: There was an overrepresentation of cardiovascular diagnoses in the CDH group after one year of age compared to the control group, 8.0vs 0.5% (n = 53 versus n = 16). The risk of having a cardiovascular diagnosis in this CDH group was 15 times higher compared to the control group (HR 15.8, 95% CI: 9-27.6, p < 0.005). The diagnoses of cardiac arrhythmias and systemic hypertension were less common in the CDH group before the age of one year compared to the CDH group beyond the age of one year. Arrhythmia 3.7 vs 15.1%, systemic hypertension 3.7 vs 7.5%.
Conclusion: CDH survivors have increased cardiovascular morbidity during childhood and young adulthood. This implies that structured follow up programs, covering cardiovascular morbidity, needs to be developed and should be offered in pediatric and adult care. Being born with CDH seems to be a risk factor for future cardiovascular diagnoses.
Level Of Evidence: Level 3: Case-Control Study.
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http://dx.doi.org/10.1016/j.jpedsurg.2022.03.028 | DOI Listing |
Am J Med Genet A
January 2025
NHC Key Laboratory of Endocrinology (Peking Union Medical College Hospital), Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
46,XY differences/disorders of sex development (DSD) are genetically heterogeneous conditions characterized by atypical development of the reproductive system. MYRF, a gene encoding a transcription factor, has been identified as a potential causative gene for DSD and cardiac urogenital syndrome (CUGS). This study aims to delineate the clinical manifestations of patients with 46,XY DSD and MYRF mutations, encompassing both from our cohort and cases reported in the literature.
View Article and Find Full Text PDFCase Rep Womens Health
March 2025
Westmead Hospital, New South Wales, Australia.
This case report describes the difficulty in predicting the outcomes for a fetus affected with both left-sided congenital diaphragmatic hernia and second-trimester pre-viable rupture of membranes. Despite the reserved prognosis at the time of diagnosis, a favourable outcome was obtained. The case highlights the relevance of established prognosticators such as the observed/expected lung/head ratio and also underscores the importance of balanced counselling and providing parents with realistic expectations and appropriate support.
View Article and Find Full Text PDFCureus
January 2025
Pediatric Surgery, Bahrain Defence Force Royal Medical Services, Riffa, BHR.
We report the case of a four-month-old male infant diagnosed incidentally with bilateral congenital diaphragmatic hernias. Our patient was found to have chest asymmetry during an unrelated hospital visit and bilateral diaphragmatic defects were confirmed on cross-sectional imaging. Surgical repair of a right-sided Bochdalek hernia and a left-sided Morgagni hernia was performed with excellent outcomes.
View Article and Find Full Text PDFPediatr Rep
January 2025
Department of Pediatric Surgery, Division of Pediatric Surgery, Baylor College of Medicine, Houston, TX 77030, USA.
Congenital diaphragmatic hernia (CDH) is a complex congenital disorder often accompanied by long-term feeding difficulties. There is a paucity of published data regarding the impact of swallowing difficulties on long-term patient outcomes. Our study attempts to evaluate this phenomenon.
View Article and Find Full Text PDFPediatr Res
January 2025
Department of Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Background: To retrospectively investigate the developmental outcomes at 3 years of age in patients with congenital diaphragmatic hernia (CDH) using a multicenter collaborative research approach.
Methods: We evaluated patients with CDH and no other malformations born between 2010 and 2016 in seven facilities in the Japanese CDH Research Group. The developmental quotient (DQ) at 3 years of age was evaluated using the Kyoto Scale of Psychological Development 2001, the most standardized scale in Japan.
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