Recurrence of anterior congenital diaphragmatic hernia after laparoscopic repair in children.

PURPOSE: To report our experience with laparoscopic repair of anterior congenital diaphragmatic hernia (CDH) using extracorporeal subcutaneous knot tying and to define recurrence risk factors. METHODS: This retrospective unicentric study included children who underwent laparoscopic repair of anterior CDH without patch, using extracorporeal knot tying of sutures passed through the full thickness of the abdominal wall (2013-2020). A systematic review of the literature with meta-analysis was performed using the MEDLINE database since 2000. RESULTS: Eight children were included (12 months [1-183]; 10.6 kg [3.6-65]). Among the two patients with Down syndrome, one with previous cardiac surgery had a recurrence at 17 months postoperatively. In our systematic review (26 articles), among the 156 patients included, 10 had a recurrence (none with patch). Recurrence was statistically more frequent in patients with Down syndrome (19.4%) than without (2.5%) (p < 0.0001), and when absorbable sutures were used (50%) instead of non-absorbable sutures (5.3%) (p < 0.0001). CONCLUSION: Laparoscopic repair of anterior CDH without patch was a safe and efficient surgical approach in our patients. The use of a non-absorbable prosthetic patch should be specifically discussed in anterior CDH associated with Down syndrome and/or in case of previous cardiac surgery to perform a diaphragmatic tension-free closure.

Abdominal wall muscle weakness outcomes after split abdominal flap repair of large congenital diaphragmatic hernias in newborn.

PURPOSE: Split abdominal wall muscle flap (SAWMF) is a technique to repair large defects in congenital diaphragmatic hernia (CDH). A possible objection to this intervention could be any associated abdominal muscle weakness. Our aim is to analyze the evolution of this abdominal muscle wall weakness. METHODS: Retrospective review of CDH repair by SAWMF (internal oblique muscle and transverse) from 2004 to 2023 focusing on the evolution of muscle wall weakness. RESULTS: Eighteen neonates of 148 CDH patients (12,1%) were repaired using SAWMF. Mean gestational age and birth weight were 35.7 ± 3.5 weeks and 2587 ± 816 g. Mean lung-to-head ratio was 1.49 ± 0.28 and 78% liver-up. Seven patients (38%) were prenatally treated by tracheal occlusion. Ninety-four percent of the flaps were used for primary repair and one to repair a recurrence. One patient (5.6%) experienced recurrence. Abdominal muscle wall weakness was present in the form of a bulge. Resolution of weakness at 1, 2 and 3 years was 67%, 89% and 94%, respectively. No patient required treatment for weakness or died. CONCLUSIONS: Abdominal muscular weakness after a split abdominal wall muscle flap repair is not a limitation for its realization since it is asymptomatic and presents a prompt spontaneous resolution. LEVEL OF EVIDENCE: IV.

Development of a prediction nomogram for 1-month mortality in neonates with congenital diaphragmatic hernia.

OBJECTIVES: Although many prognostic factors in neonates with congenital diaphragmatic hernia (CDH) have been described, no consensus thus far has been reached on which and how many factors are involved. The aim of this study is to analyze the association of multiple prenatal and postnatal factors with 1-month mortality of neonates with CDH and to construct a nomogram prediction model based on significant factors. METHODS: A retrospective analysis of neonates with CDH at our center from 2013 to 2022 was conducted. The primary outcome was 1-month mortality. All study variables were obtained either prenatally or on the first day of life. Risk for 1-month mortality of CDH was quantified by odds ratio (OR) with 95% confidence interval (CI) in multivariable logistic regression models. RESULTS: After graded multivariable adjustment, six factors were found to be independently and consistently associated with the significant risk of 1-month mortality in neonates with CDH, including gestational age of prenatal diagnosis (OR, 95% CI, P value: 0.845, 0.772 to 0.925, < 0.001), observed-to-expected lung-to-head ratio (0.907, 0.873 to 0.943, < 0.001), liver herniation (3.226, 1.361 to 7.648, 0.008), severity of pulmonary hypertension (6.170, 2.678 to 14.217, < 0.001), diameter of defect (1.560, 1.084 to 2.245, 0.017), and oxygen index (6.298, 3.383 to 11.724, < 0.001). Based on six significant factors identified, a nomogram model was constructed to predict the risk for 1-month mortality in neonates with CDH, and this model had decent prediction accuracy as reflected by the C-index of 94.42%. CONCLUSIONS: Our findings provide evidence for the association of six preoperational and intraoperative factors with the risk of 1-month mortality in neonates with CDH, and this association was reinforced in a nomogram model.

Incarceration of Bochdalek hernia in an adult - case report.

This paper presents the case of a 32-year-old female patient with acute colon incarceration in the thoracic cavity due to Bochdalek hernia. An asymptomatic right Bochdalek hernia was also discovered, which is a rare finding. The patient underwent laparotomy with reposition of the incarcerated organs and primary closure of the left-sided defect. The stenotic portion of the originally incarcerated colon was resected one year later due to the symptoms of chronic bowel problems. At present, 18 months from the first surgery, the patient's clinical condition remains good with a positive clinical response to the secondary surgery involving resection of the stenotic colon, and the right Bochdalek hernia remains asymptomatic.

The brain of fetuses with congenital diaphragmatic hernia shows signs of hypoxic injury with loss of progenitor cells, neurons, and oligodendrocytes.

Congenital diaphragmatic hernia (CDH) is a birth defect characterized by incomplete closure of the diaphragm, herniation of abdominal organs into the chest, and compression of the lungs and the heart. Besides complications related to pulmonary hypoplasia, 1 in 4 survivors develop neurodevelopmental impairment, whose etiology remains unclear. Using a fetal rat model of CDH, we demonstrated that the compression exerted by herniated organs on the mediastinal structures results in decreased brain perfusion on ultrafast ultrasound, cerebral hypoxia with compensatory angiogenesis, mature neuron and oligodendrocyte loss, and activated microglia. In CDH fetuses, apoptosis was prominent in the subventricular and subgranular zones, areas that are key for neurogenesis. We validated these findings in the autopsy samples of four human fetuses with CDH compared to age- and sex-matched controls. This study reveals the molecular mechanisms and cellular changes that occur in the brain of fetuses with CDH and creates opportunities for therapeutic targets.

Hepatopulmonary fusion in congenital diaphragmatic hernia: successful management of a lethal variant.

Congenital diaphragmatic hernia (CDH) is a congenital anomaly involving the herniation of intra-abdominal contents into the thoracic cavity. Hepatopulmonary fusion (HPF), an exceedingly rare subtype mainly associated with right-sided CDH, presents unique diagnostic and therapeutic challenges. This case report describes a male infant with right-sided CDH complicated by HPF. The intricate anatomical anomaly involved the fusion of the right lung to the liver, posing challenges during surgical separation. The patient experienced postoperative complications, including prolonged ventilation, tracheostomy and pulmonary issues, which led to a prolonged hospital stay. Intraoperative challenges stem from the absence of demarcation between lung and liver tissues and abnormal vascular structures. In summary, managing HPF in right-sided CDH necessitates a customised, multidisciplinary approach to optimise patient outcomes, highlighting the need for ongoing research to refine understanding and treatment strategies.

Right-sided Morgagni diaphragmatic hernia presenting as isolated left shoulder pain.

A woman in her 60s presented to the emergency department with excruciating, deep left shoulder pain and was found to have a right-sided Morgagni hernia, a rare type of congenital diaphragmatic hernia (CDH). She did not have chest pain, palpitations, shortness of breath, cough, abdominal pain, constipation, diarrhoea, nausea, vomiting or other symptoms classically associated with CDHs in adults. Laparoscopic robotic-assisted repair with mesh placement was performed, and the patient's recovery was uncomplicated, with no recurrence of shoulder pain. Our patient's presentation was unusual due to the absence of symptoms typically seen with CDHs in adults, and the presence of contralateral, left-sided shoulder pain with a right-sided Morgagni hernia.

Congenital Hernias in Adults: Bochdalek Hernias.

Bochdalek hernias are a rare occurrence in adults and usually asymptomatic, resulting in incidental discovery. However, surgical intervention is recommended for both symptomatic and asymptomatic Bochdalek hernias due to the risk of acute morbidity and mortality. There are various possible surgical approaches that may be appropriate depending on the circumstance, with robotic repair becoming increasingly popular. To date, the rarity of the condition has limited the available data on postoperative outcomes.

Structured reporting in fetal magnetic resonance imaging with congenital diaphragmatic hernia.

OBJECTIVE: We aim to provide a template structured report of fetal Magnetic Resonance Imaging in congenital diaphragmatic hernia (CDH) that was locally validated by the CDH study group in Mannheim. METHODS: A selection of 50 fetal MRIs of patients with an isolated diaphragmatic hernia and associated radiology reports from five different senior radiologists from a single center resulted in a primary structured report, which was put into practice by using dedicated software. A questionnaire survey of the interdisciplinary CDH study group Mannheim was used to adapt the report to the clinical requirements. RESULTS: There was a huge variability in how deep the free text reports go into detail. The side of the hernia was named in 94% of cases. In 58%, both the lung volume and the total lung volume were reported. A comparison with the expected lung volume was reported in 66% of cases. Additional findings, such as herniated organs, were reported in 96% of cases. Overall satisfaction with the newly established structured report was high within the CDH study group with a mean of 4.7. CONCLUSIONS: The use of the structured report of this study can optimize the interdisciplinary dialog, the standardization of report content, increase report completeness and improve quality.

Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome.

BACKGROUND: congenital diaphragmatic hernia (CDH) is a birth defect occurring in isolated or syndromic (chromosomal or monogenic) conditions. The diaphragmatic defect can be the most common one: left-sided posterolateral, named Bochdalek hernia; or it can be an anterior-retrosternal defect, named Morgagni hernia. Marfan syndrome (MFS) is a rare autosomal dominant inherited condition that affects connective tissue, caused by mutations in fibrillin-1 gene on chromosome 15. To date various types of diaphragmatic defects (about 30 types) have been reported in association with MFS, but they are heterogeneous, including CDH and paraesophageal hernia. CASE PRESENTATION: We describe the case of a child incidentally diagnosed with Morgagni hernia through a chest X-ray performed due to recurrent respiratory tract infections. Since the diagnosis of CDH, the patient underwent a clinical multidisciplinary follow-up leading to the diagnosis of MFS in accordance with revised Ghent Criteria: the child had typical clinical features and a novel heterozygous de novo single-base deletion in exon 26 of the FBN1 gene, identified by Whole-Exome Sequencing. MFS diagnosis permitted to look for cardiovascular complications and treat them, though asymptomatic, in order to prevent major cardiovascular life-threatening events. CONCLUSION: Our case shows the importance of a long-term and multidisciplinary follow-up in all children with diagnosis of CDH.

Statewide Hospital Admissions for Adult Survivors of Infant Surgical Diseases Over a 10-Year Period.

INTRODUCTION: The number of patients with congenital disease living to adulthood continues to grow. Often undergoing surgical correction in infancy, they continue to require lifelong care. Their numbers are largely unknown. We sought to evaluate hospital admissions of adult patients with esophageal atresia with tracheoesophageal fistula (EA/TEF), congenital diaphragmatic hernia (CDH), and Hirschsprung disease (HD). METHODS: The Florida Agency for Healthcare Administration inpatient database was merged with the Distressed Communities Index and Centers for Medicare and Medicaid Services Hospital and Physician Compare datasets. The dataset was queried for adult patients (≥18 y, born after 1970) with EA/TEF, CDH, and HD in their problem list from 2010 to 2020. Patient demographics, hospitalization characteristics, and discharge information were obtained. RESULTS: In total, 1140 admissions were identified (266 EA/TEF, 135 CDH, 739 HD). Patients were mostly female (53%), had a mean age of 31.6 y, and often admitted to an adult internist in a general hospital under emergency. Principal diagnoses and procedures (when performed) varied with diagnosis and age at admission. EA patients were admitted with dysphagia and foregut symptoms and often underwent upper endoscopy with dilation. CDH patients were often admitted for diaphragmatic hernias and underwent adult diaphragm repair. Hirschsprung patients were often admitted for intestinal obstructive issues and frequently underwent colonoscopy but trended toward operative intervention with increasing age. CONCLUSIONS: Adults with congenital disease continue to require hospital admission and invasive procedures. As age increases, diagnoses and performed procedures for each diagnoses evolve. These data could guide the formulation of multispecialty disease-specific follow-up programs for these patients.

Cryo-EM structures elucidate the multiligand receptor nature of megalin.

Megalin (low-density lipoprotein receptor-related protein 2) is a giant glycoprotein of about 600 kDa, mediating the endocytosis of more than 60 ligands, including those of proteins, peptides, and drug compounds [S. Goto, M. Hosojima, H. Kabasawa, A. Saito, Int. J. Biochem. Cell Biol. 157, 106393 (2023)]. It is expressed predominantly in renal proximal tubule epithelial cells, as well as in the brain, lungs, eyes, inner ear, thyroid gland, and placenta. Megalin is also known to mediate the endocytosis of toxic compounds, particularly those that cause renal and hearing disorders [Y. Hori et al., J. Am. Soc. Nephrol. 28, 1783-1791 (2017)]. Genetic megalin deficiency causes Donnai-Barrow syndrome/facio-oculo-acoustico-renal syndrome in humans. However, it is not known how megalin interacts with such a wide variety of ligands and plays pathological roles in various organs. In this study, we elucidated the dimeric architecture of megalin, purified from rat kidneys, using cryoelectron microscopy. The maps revealed the densities of endogenous ligands bound to various regions throughout the dimer, elucidating the multiligand receptor nature of megalin. We also determined the structure of megalin in complex with receptor-associated protein, a molecular chaperone for megalin. The results will facilitate further studies on the pathophysiology of megalin-dependent multiligand endocytic pathways in multiple organs and will also be useful for the development of megalin-targeted drugs for renal and hearing disorders, Alzheimer's disease [B. V. Zlokovic et al., Proc. Natl. Acad. Sci. U.S.A. 93, 4229-4234 (1996)], and other illnesses.

Diaphragmatic Defects in Infants: Acute Management and Repair.

Congenital diaphragmatic hernia (CDH) is a complex and highly variable disease process that should be treated at institutions with multidisciplinary teams designed for their care. Treatment in the neonatal period focuses on pulmonary hypoplasia, pulmonary hypertension, and cardiac dysfunction. Extracorporeal membrane oxygenation (ECMO) can be considered in patients refractory to medical management. Repair of CDH early during the ECMO course seems to improve mortality compared with other times for surgical intervention. The choice of surgical approach to CDH repair should consider the patient's physiologic status and the surgeon's familiarity with the operative approaches available, recognizing the pros/cons of each technique.

Management of Congenital Hernias in Adults: Foramen of Morgagni Hernia.

Morgagni hernias may range from asymptomatic incidental findings to surgical emergencies. An abdominal approach is ideal in the majority of cases, although surgeons should understand alternatives for repair.

Postoperative pulmonary vascular growth in patients with congenital diaphragmatic hernia.

BACKGROUND: Postoperative pulmonary growth in congenital diaphragmatic hernias (CDH) remains unclear. We investigated postoperative pulmonary vascular growth using serial lung perfusion scintigraphy in patients with CDH. METHODS: Neonates with left CDH who underwent surgery and postoperative lung perfusion scintigraphy at our institution between 2001 and 2020 were included. Patient demographics, clinical courses, and lung scintigraphy data were retrospectively analyzed by reviewing medical records. RESULTS: Twenty-one patients with CDH were included. Of these, 10 underwent serial lung scintigraphy. The ipsilateral perfusion rate and median age on the 1st and serial lung scintigraphy were 32% (34 days) and 33% (3.6 years), respectively. Gestational age at prenatal diagnosis (p = 0.02), alveolar-arterial oxygen difference (A-aDO2) at birth (p = 0.007), and preoperative nitric oxide (NO) use (p = 0.014) significantly correlated with the 1st lung scintigraphy. No other variables, including operative approach, were significantly correlated with the 1st or serial scintigraphy findings. All patients improved lung perfusion with serial studies [Difference: + 7.0 (4.3-13.25) %, p = 0.001, paired t-test]. This improvement was not significantly correlated with preoperative A-aDO2 (p = 0.96), NO use (p = 0.28), or liver up (p = 0.90). The difference was significantly larger in patients who underwent thoracoscopic repair than in those who underwent open abdominal repair [+ 10.6 (5.0-17.1) % vs. + 4.25 (1.2-7.9) %, p = 0.042]. CONCLUSION: Our study indicated a postoperative improvement in ipsilateral lung vascular growth, which is possibly enhanced by a minimally invasive approach, in patients with CDH.

An acute gastric volvulus in a child with congenital left diaphragmatic hernia: a case report.

BACKGROUND: Acute complete gastric volvulus is a rare and life-threatening disease, which is prone to gastric wall ischemia, perforation, and necrosis. If it is not treated by surgery in time, the mortality rate can range from 30 to 50%. Clinical presentations of acute gastric volvulus are atypical and often mimic other abdominal conditions such as gastritis, gastroesophageal reflux, gastric dilation, and pancreatitis. Imaging studies are crucial for diagnosis, with barium meal fluoroscopy being the primary modality for diagnosing gastric volvulus. Cases of acute gastric volvulus diagnosed by ultrasound are rarely reported. CASE PRESENTATION: We reported a rare case of acute gastric volvulus in a 4-year-old Chinese girl who presented with vomiting and abdominal pain. Ultrasound examination revealed the "whirlpool sign" in the cardia region, raising suspicion of gastric volvulus. Diagnosis was confirmed by X-ray barium meal fluoroscopy, which indicated left-sided diaphragmatic hernia and obstruction at the cardia region. Surgical intervention confirmed our suspicion of acute complete gastric volvulus combined with diaphragmatic hernia. CONCLUSION: In this case, we reported an instance of acute complete gastric volvulus. Ultrasound revealed a "whirlpool sign" in the cardia, which is likely to be a key sign for the diagnosis of complete gastric volvulus.

Approach to Acute Traumatic and Nontraumatic Diaphragmatic Abnormalities.

Acute diaphragmatic abnormalities encompass a broad variety of relatively uncommon and underdiagnosed pathologic conditions, which can be subdivided into nontraumatic and traumatic entities. Nontraumatic abnormalities range from congenital hernia to spontaneous rupture, endometriosis-related disease, infection, paralysis, eventration, and thoracoabdominal fistula. Traumatic abnormalities comprise both blunt and penetrating injuries. Given the role of the diaphragm as the primary inspiratory muscle and the boundary dividing the thoracic and abdominal cavities, compromise to its integrity can yield devastating consequences. Yet, diagnosis can prove challenging, as symptoms may be vague and findings subtle. Imaging plays an essential role in investigation. Radiography is commonly used in emergency evaluation of a patient with a suspected thoracoabdominal process and may reveal evidence of diaphragmatic compromise, such as abdominal contents herniated into the thoracic cavity. CT is often superior, in particular when evaluating a trauma patient, as it allows rapid and more detailed evaluation and localization of pathologic conditions. Additional modalities including US, MRI, and scintigraphy may be required, depending on the clinical context. Developing a strong understanding of the acute pathologic conditions affecting the diaphragm and their characteristic imaging findings aids in efficient and accurate diagnosis. Additionally, understanding the appearance of diaphragmatic anatomy at imaging helps in differentiating acute pathologic conditions from normal variations. Ultimately, this knowledge guides management, which depends on the underlying cause, location, and severity of the abnormality, as well as patient factors. ©RSNA, 2024 Supplemental material is available for this article.

Neurodevelopmental Outcomes in Children After Fetoscopic Endoluminal Tracheal Occlusion for Severe Congenital Diaphragmatic Hernia: Results From a Multidisciplinary Clinic.

BACKGROUND: We compared early neurodevelopmental morbidity in young children with severe CDH who underwent FETO to those without fetal therapy. METHODS: We conducted a prospective study of severe CDH patients undergoing FETO (n = 18) at a single North American center from 2015 to 2021 (NCT02710968). Outpatient survivors (n = 12) were evaluated by a multidisciplinary team and compared to expectantly managed CDH patients. Neurodevelopmental outcomes were assessed using the Capute Scales [Clinical Linguistic and Auditory Milestone Scales (CLAMS) and Cognitive Adaptive Test (CAT)], with a developmental quotient (DQ) < 85 indicative of at-risk for delay. RESULTS: At one year, 58% (n = 7) of FETO patients underwent evaluation, with notable concern for language delay (CLAMS median DQ, 80.1 [interquartile range, 67.6-86.7]). FETO scores improved by 24-months, whereas high severity/non-FETO scores declined [CLAMS median DQ (Difference in DQ), 92.3 (+12.2) vs. 77.1 (-13.4), respectively; p = 0.049]. On the initial CAT, FETO patients had concern for visual motor and problem-solving delays, with a median DQ of 81.3 (62.1-89.4). At 24-months, FETO patients had improving scores [Median CAT DQ, 90.8 (+9.5)], whereas high severity/non-FETO [87.5 (-3.0), p = 0.28] had declining scores. CONCLUSION: These initial data suggest that FETO is associated with favorable neurodevelopmental outcomes at 24-months compared to severe CDH under expectant management. LEVEL OF EVIDENCE: III.

[Congenital diaphragmatic hernia : Imaging-from diagnosis to aftercare]. / Kongenitale Zwerchfellhernie : Bildgebung von der Diagnose bis zur Nachsorge.

STANDARD RADIOLOGICAL METHODS: Fetal: Ultrasound and magnetic resonance imaging (MRI); postnatal: conventional X­ray diagnostics, computed tomography (CT) and MRI. METHODICAL INNOVATIONS: MRI-based lung ventilation and perfusion measurement. PRACTICAL RECOMMENDATIONS: Lifelong follow-up care should be provided, in which radiology is part of the treatment team.