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Congenital posterolateral diaphragmatic hernia: associated malformations
D R Benjamin1, S Juul, J R Siebert
1Department of Laboratories, Children's Hospital and Medical Center, Seattle, WA 98105.
Insights
Congenital posterolateral diaphragmatic hernia (CDH) is often accompanied by other severe birth defects, not just isolated ones. Careful evaluation for these additional anomalies is crucial for patient management and prognosis.
Area of Science:
- Pediatric Surgery
- Medical Genetics
- Developmental Biology
Background:
- Congenital posterolateral diaphragmatic hernia (CDH) is commonly perceived as an isolated defect.
- This perception may be incomplete, potentially overlooking associated malformations.
Purpose of the Study:
- To catalogue the frequency and clinical significance of additional malformations in patients with CDH.
- To investigate the impact of these anomalies on patient outcomes.
Main Methods:
- Review of clinical and autopsy data over 25 years.
- Comprehensive literature review on CDH and associated defects.
Main Results:
- Two patient categories identified: isolated CDH (60%) and CDH with extradiaphragmatic malformations (40%).
- Isolated CDH group had a 55% survival rate; cryptorchidism noted in 30% of males.
- Patients with additional malformations had a significantly lower survival rate (14%).
- Commonly affected systems included heart, brain, genitourinary, craniofacial, and limbs.
Conclusions:
- CDH is frequently associated with multiple, diverse malformations.
- The presence of extradiaphragmatic defects significantly worsens prognosis.
- Thorough evaluation for additional anomalies is essential for optimal CDH patient management.
Abstract:
Congenital posterolateral diaphragmatic hernia (CDH) is widely regarded as an isolated defect, but this view is incomplete. We reviewed our clinical and autopsy experience and the literature from the past 25 years in order to catalogue the frequency and clinical importance of additional malformations in patients with CDH. The study showed two broad categories of patients. In the larger group of infants (65 of 108, or 60%), CDH was the only severe defect, apart from those normally associated with the presence of abdominal viscera in the thorax. Thirty-six of these patients (55%) survived. A striking finding among infants with isolated CDH, not previously highlighted in the literature, was cryptorchidism which was present in 30% of males. By contrast, 43 patients (40%) had one or more severe extradiaphragmatic malformations; only six of these infants (14%) survived. Defects in morphogenesis were widespread, heterogeneous, and seemingly related to numerous pathogenetic mechanisms. Most often abnormalities involved the heart, brain, genitourinary system, craniofacial region, or limbs. The high incidence of multiple anomalies in some patients with CDH should influence our investigations into causes and mechanisms. Patients with CDH should be evaluated carefully for additional defects--their presence has a significant impact on management and worsens prognosis.