Congenital Diaphragmatic Hernia Research Articles

Combined laparoscopic and thoracoscopic repair of adult right-sided Bochdalek hernia with massive liver prolapse: A case report

BACKGROUND A Bochdalek hernia (BH) is a congenital diaphragmatic hernia that often develops in the neonatal period. BH typically occurs on the left side of the diaphragm. A right-sided BH in an adult is rare. CASE SUMMARY A 45-year-old man was referred to our hospital because of an abnormal shadow seen on chest radiography during a medical check-up. A chest radiograph showed elevation of the right hemidiaphragm. Computed tomography showed prolapse of multiple intraabdominal organs into the right thoracic cavity, corresponding to a right-sided BH. The herniated contents included the stomach, transverse colon, and left lobe of the liver. The left lobe of the liver was enlarged, particularly the medial segment. Laparoscopic surgery was performed. However, the left lobe of the liver was completely trapped in the thoracic cavity. Therefore, thoracoscopic manipulation had to be performed to return the liver to the abdominal cavity. The hernia was repaired with interrupted nonabsorbable sutures and reinforced with mesh. CONCLUSION Combined laparoscopic and thoracoscopic surgery was successfully performed for right-sided BH with massive liver prolapse and abnormal liver morphology.

Previously undiagnosed Morgagni hernia with bowel perforation detected during repeat screening colonoscopy: A case report

BACKGROUND Morgagni hernia (MH) is a form of congenital diaphragmatic hernia (CDH) characterized by an incomplete formation of diaphragm, resulting in the protrusion of abdominal organs into the thoracic cavity. The estimated incidence of CDH is between 1 in 2000 and 1 in 5000 live births, although the true incidence is unknown. MH typically presents in childhood and can be diagnosed either prenatally or postnatally. However, it can also be asymptomatic and carry the risk of developing into a life-threatening condition in adulthood. CASE SUMMARY A 76-year-old female with no history of prior abdominal surgeries presented for an elective colonoscopy for polyp surveillance. During the procedure, when approaching the hepatic flexure, the scope could not be advanced further despite multiple attempts. The patient experienced mild abdominal discomfort, leading to the abortion of the procedure. While in the recovery area, she developed increasing abdominal pains and hypotension. Urgent abdominal imaging revealed herniation of the proximal transverse colon through a MH into the chest with evidence of perforation. The patient underwent laparoscopic urgent colonic resection and primary hernia repair and was discharged uneventfully 2 d later. CONCLUSION A MH is a rare condition in adults that can present as a life-threatening complication of colonoscopy, even in patients with a history of uneventful colonoscopies. This case highlights the importance of considering congenital and internal hernias when faced with sudden and unexplained difficulties during colonoscopy. If there is a suspicion of MH, the endoscopist should halt the procedure and immediately obtain abdominal imaging to confirm the diagnosis.

Self-reported respiratory and gastrointestinal outcomes in children with isolated congenital diaphragmatic hernia: A prospective multicentre study.

To evaluate medium-term self-reported respiratory and gastrointestinal (GI) outcomes in children with congenital diaphragmatic hernia (CDH). Self-reported respiratory and GI outcomes correlated with prenatal severity indicators. Prospective study at three fetal medicine units. Families of children prenatally diagnosed with isolated, left-sided CDH surviving for >1 year. Families received validated questionnaires for GI outcomes (Infant Gastroesophageal Reflux Questionnaire Revised, I-GERQ-R, for infants aged <2 years, or Paediatric Gastro-oesophageal Symptom and Quality of Life Questionnaire, PGSQ, for children aged aged 2-8 years or >9 years) and respiratory outcomes (preschool respiratory outcome questionnaire, for children aged ≤5 years, or the International Study of Asthma and Allergies in Childhood asthma questionnaire, for children aged 6-8 years or ≥9 years). Prenatal data collected from the medical records included lung size (percentage observed/expected lung-to-head ratio, O/E LHR %), liver position, fetal endoluminal tracheal occlusion (FETO) gestational age (GA) at delivery, and perinatal data included birthweight, location, patch repair and respiratory support. The GI and respiratory scores were correlated with O/E LHR using linear and logistic regression models. Univariate analysis was used to evaluate associations with perinatal variables. We obtained 142 responses from 342 families (representing a response rate of 45%). The baseline characteristics of participants and non-participants were comparable. No correlations between perinatal variables and respiratory or GI scores were identified. Children aged ≤5 years with lower O/E LHR values reported higher respiratory scores (P = 0.0175); this finding was not reported in older children. Overall, the children who underwent FETO (n = 51) had GI (P = 0.290) and respiratory (P = 0.052) scores that were comparable with those of children who were expectantly managed. Families and children with prenatally diagnosed CDH reported fewer respiratory symptoms with increasing age. There was no correlation between O/E LHR or the use of FETO and self-reported outcomes.

Postoperative pulmonary vascular growth in patients with congenital diaphragmatic hernia

BackgroundPostoperative pulmonary growth in congenital diaphragmatic hernias (CDH) remains unclear. We investigated postoperative pulmonary vascular growth using serial lung perfusion scintigraphy in patients with CDH.MethodsNeonates 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.ResultsTwenty-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].ConclusionOur study indicated a postoperative improvement in ipsilateral lung vascular growth, which is possibly enhanced by a minimally invasive approach, in patients with CDH.

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

Backgroundcongenital 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 presentationWe 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.ConclusionOur case shows the importance of a long-term and multidisciplinary follow-up in all children with diagnosis of CDH.

Previously unrecognized Morgagni’s hernia presenting with bowel obstruction: a rare case report

Introduction and importance: Morgagni’s hernia (MH) is a rare entity, it is defined by the protrusion of abdominal viscera through an anterior retrosternal diaphragmatic defect. It is mainly diagnosed during the perinatal and neonatal periods. A few cases have been reported in adults. The objective of this study was to report the case of a patient with an unrecognized MH, review the current literature on Morgani hernias in the adult population, and assess their clinical characteristics and therapeutic approach reported in adults. We here describe a rare case of a MH presenting with bowel obstruction as the primary symptom in adult life. Case presentation: A 52-year-old man presented to the emergency department with a bowel obstruction. The abdominal CT tomography showed an intestinal bowel obstruction above the hiatal hernia with an intrathoracic ascending colon. Exploratory laparotomy revealed a bilateral strangulated diaphragmatic hernia of Morgagni. The patient underwent closure of the diaphragmatic defect under tension by X-stitch. The recovery was uneventful, and the patient is in good health after 12 months of follow-up. Clinical discussion: The Morgagni hernias are usually asymptomatic; complications such as strangulation of the herniated colon or herniated stomach by stricture are exceptional. Surgical treatment is always recommended for MH. Postoperative complications are rare in simple diaphragmatic hernias, and the course is generally favorable. Conclusion: MH is the rarest form of congenital diaphragmatic hernia, with nonspecific symptomatology contributing to the delay in diagnosis. The cure is surgical, and the open surgical approach is preferable in emergency cases, while laparoscopic surgery is favored in elective settings and is associated with shorter hospitalization. Further studies are crucial in order to elucidate etiology and optimal therapeutic approach.

Acellular Bovine Pericardial Patch for Difficult Abdominal Closure in the Pediatric Population: Our Experience with Review of Literature

ABSTRACT Aims: Closure of congenital body wall defects in children can be a challenging task for the pediatric Surgeon. Biological prosthesis has been increasingly used for high-risk wound closure in adult patients with excellent outcomes and use in the pediatric population has also been reported. Here, we aim to study the outcome of abdominal wound repair with a tissue-engineered acellular bovine pericardial patch. Methods: Over a period of 21 months, a total of 15 children had undergone abdominal wound repair with bioprostheses, i.e., bovine pericardial patch at our institute. Patient demographics, cause of defect, an indication of patch use, rate of infection, postoperative recovery, recurrence, and outcome were studied. Results: A total of 15 patients underwent abdominal wall closure with acellular bovine pericardial patch. Nine out of 15 patients were neonates, of whom five had gastroschisis, two had a congenital diaphragmatic hernia, and two had ruptured omphalocele major. Of the rest 6 patients, 2 were patients of bladder exstrophy, 2 were older children of congenital diaphragmatic hernia with incisional hernias, and 2 were older children with omphalocele major. Out of the five patients with gastroschisis, two died during the early postoperative period due to sepsis. The wound healed in the rest 13 patients with mild skin dehiscence in two patients. Only one child had a recurrence. Conclusion: Reconstruction with acellular bovine pericardial patch is a viable option in children with high-risk abdominal wounds as it allows tensionless repair with excellent healing and minimal complications. Recurrence, if any, may disappear with time as remodeling of the prosthesis occurs along with the growth of the body wall of the child.

Disparities in healthcare utilization: an analysis of disease specific and patient level factors in a Congenital Diaphragmatic Hernia clinic

Disparities in healthcare utilization: an analysis of disease specific and patient level factors in a Congenital Diaphragmatic Hernia clinic

Risk factors and outcome of antenatally diagnosed congenital diaphragmatic hernia following in-utero transfer in a busy public-sector tertiary care center in North India.

We analyzed the risk factors and outcomes of antenatally diagnosed congenital diaphragmatic hernia (CDH) from a tertiary-care children's hospital following in-utero transfer. A total of 41 antenatally detected cases of CDH were included; 30 were live-born and 11 were still-born. The primary outcome was postnatal survival. The secondary outcome was the probable factor affecting survival. No medical termination of the pregnancy was done. The mean gestational age at diagnosis was 23 weeks. The diagnostic accuracy of antenatal ultrasonography was 40/41 (97.5%). Lung-to-head ratio (LHR) was <1 in 20 cases (survived 2), LHR was >1 in 10 cases (survived 8), and LHR was not recorded in 11 cases (survived 4). Overall survival was 14/41 (34.1%). Survival in fetuses with polyhydramnios was 0% (n=3; survived 0), associated anomalies were 33.3% (n=3; survived 1), and liver herniation was 22.2% (n=9; survived 2). Postnatally, significant risk factors included a low Apgar score, the need for ventilation, and neonatal intensive care unit (NICU) management. Survival in live-born cases was 14/30 (46.6%) and in operated cases was 14/19 (73.6%). We concluded that antenatal ultrasound had a high accuracy rate for detecting CDH. Antenatal risk factors affecting outcomes were low LHR, maternal polyhydramnios, liver herniation, and associated malformations. Postnatal risk factors included a low Apgar score, NICU admission, and a need for ventilation. The overall survival rate, as well as the survival rates for live-borns and those undergoing surgery, were 34.1%, 46.6%, and 73.6%, respectively. This data will guide clinicians in counseling the families of antenatally diagnosed CDH.

Management advances for congenital diaphragmatic hernia: integrating prenatal and postnatal perspectives.

In congenital diaphragmatic hernia (CDH), abdominal organs are displaced into the chest, compress the lungs, and cause mediastinal shift. This contributes to development of pulmonary hypoplasia and hypertension, which is the primary determinant of morbidity and mortality for affected newborns. The severity is determined using prenatal imaging as early as the first trimester and is related to the laterality of the defect, extent of lung compression, and degree of liver herniation. Comprehensive evaluation of fetal CDH includes imaging-based severity assessment, severity assessment, and evaluation for structural or genetic abnormalities to differentiate isolated from complex cases. Prenatal management involves multispecialty counseling, consideration for fetal therapy with fetoscopic endoluminal tracheal occlusion (FETO) for severe cases, monitoring and intervention for associated polyhydramnios or signs of preterm labor if indicated, administration of antenatal corticosteroids in the appropriate setting, and planned delivery to optimize the fetal condition at birth. Integrated programs that provide a smooth transition from prenatal to postnatal care produce better outcomes. Neonatal care involves gentle ventilation to avoid hyperinflation and must account for transitional physiology to avoid exacerbating cardiac dysfunction and decompensation. Infants who have undergone and responded to FETO have greater pulmonary capacity than expected, but cardiac dysfunction seems unaffected. In about 25-30% of CDH neonates extracorporeal life support is utilized, and this provides a survival benefit for patients with the highest predicted mortality, including those who underwent FETO. Surgical repair after initial medical management for the first 24-48 hours of life is preferred since later repair is associated with delayed oral feeding, increased need for tube feeds, and increased post-repair ventilation requirement and supplemental oxygen at discharge. With overall survival rates >70%, contemporary care involves management of chronic morbidities in the context of a multidisciplinary clinic setting.

A ventral diaphragmatic advancement technique to repair a large congenital peritoneopericardial diaphragmatic hernia in a dog.

To report a ventral diaphragmatic advancement technique to repair a large congenital peritoneopericardial diaphragmatic hernia in a dog. A 5-month-old 15-kg entire male Labrador Retriever. The dog presented with a history of diarrhea for a week and acute-onset lethargy and vomiting for 3 days. Clinical examination revealed borborygmi on auscultation of the chest, and subsequent imaging showed a congenital peritoneopericardial diaphragmatic hernia. The ventro-central diaphragmatic defect was repaired with a pericardial flap, which subsequently failed 7 months later. The revision surgery was performed with a novel surgical technique. The defect was closed by means of incising the ventral attachments of the diaphragm either side of the defect and sliding it medially to allow a tension-free closure. The ventral aspect of the incised diaphragm was reattached with circumcostal sutures and the central defect closed. The dog recovered rapidly and without complication. An excellent outcome was reported after surgery. This novel technique was a simple method to repair a peritoneopericardial diaphragmatic hernia and had good clinical results in this case.

Prenatal treatment with nitrite reduces pulmonary arteriolar remodeling in neonates with congenital diaphragmatic hernia

Therapeutic use of alternative nitric oxide (NO) sources, such as nitrite and nitrate may be a protective influence on pulmonary vasculature abnormalities. AimTo evaluate whether the maternal administration of nitrite prevents the morphological and molecular changes that affect the pulmonary arterioles of congenital diaphragmatic hernia (CDH) neonates. MethodsCEUA #88/2017. Sprague-Dawley neonate rats were divided into 6 groups: 1. control; 2. control + nitrite; 3. nitrofen exposed; 4. nitrofen exposed + nitrite; 5. CDH and 6. CDH + nitrite. The pregnant rats from nitrofen exposed and CDH groups were exposed to nitrofen on gestational day (GD) 9.5. The treatment with nitrite was made by gavage (15 mg/kg/day), on the last five gestational days. On GD 21.5 the fetuses were harvested. The following parameters were analyzed: lung and plasma nitrite concentration; media wall thickness (MWT) and endothelial NO synthase eNOS and inducible NO synthase iNOS immunohistochemistry of pulmonary arterioles. ResultsNitrite treatment increased the maternal plasma concentration of nitrite in control and nitrofen-exposed rats. All neonates exposed to nitrofen showed an increase of nitrofen in the lung and plasma. Nitrite treatment decreased the MWT of pulmonary arterioles of CDH neonates. Nitrite treatment increased eNOS marker and attenuated iNOS marker in neonates with CDH. ConclusionsNitrite maternal treatment rescued the morphometry and recovered eNOS expression of CDH pulmonary arterioles during CDH. Nitrite is a potential prenatally therapeutic approach to vascular alterations present in CDH neonates.

Bias in the prenatal lung measurements in fetal congenital diaphragmatic hernia with intrauterine growth restriction.

The failure of a fetus to develop to its full potential due to maternal or placental factors is known as intrauterine growth restriction (IUGR). Fetal head growth is usually preserved in that situation producing a potential discordance between head and body size. Our goal is to discover if IUGR has an impact on the prenatal ultrasound measurements taken to assess pulmonary development in congenital diaphragmatic hernia (CDH). A retrospective chart review (IRB#2017-6361) was performed on all prenatally diagnosed CDH patients from 2007 to 2016. Patient demographics, fetal and neonatal anthropometric measurements, and fetal lung parameters were the main subjects of the data that were gathered. Fetal growth was assessed by the curves based on US data by Olsen etal. and by Peleg etal. Of 147 CDH patients, 19 (12.9 %) patients were diagnosed with IUGR before the 30th gestational week while there were 20 (13.6 %) patients after the 30th gestational week. Patients with IUGR and the observed-to-expected lung-to-head ratio (O/E LHR) less than 25 % had better survival rates both to discharge and date compared to non IUGR group (p=0.226, OR 2.25 95 % CI 0.60-1.08 and p=0.175, OR 2.40 95 % CI 0.66-1.17, respectively). Moreover, the ECMO need of the patients who had IUGR and O/E LHR less than 25 % was significantly less than the patients without IUGR (38.5 vs. 80.0 %, p=0.005). This study confirms that the intrauterine measurements to predict pulmonary hypoplasia in CDH patients are misleading in the presence of IUGR and cause an overestimation.

Ultrasound Differentiation of Twins with Discordant Congenital Diaphragmatic Hernia in the Delivery Room

Ultrasound Differentiation of Twins with Discordant Congenital Diaphragmatic Hernia in the Delivery Room

A breath of fresh air: Does spontaneous breathing and early repair in neonates with very mild congenital diaphragmatic hernia lead to earlier discharge?

A breath of fresh air: Does spontaneous breathing and early repair in neonates with very mild congenital diaphragmatic hernia lead to earlier discharge?

A clinical consensus guideline for nutrition in infants with congenital diaphragmatic hernia from birth through discharge.

To develop a consensus guideline to meet nutritional challenges faced by infants with congenital diaphragmatic hernia (CDH). The CDH Focus Group utilized a modified Delphi method to develop these clinical consensus guidelines (CCG). Topic leaders drafted recommendations after literature review and group discussion. Each recommendation was sent to focus group members via a REDCap survey tool, and members scored on a Likert scale of 0-100. A score of > 85 with no more than 25% outliers was designated a priori as demonstrating consensus among the group. In the first survey 24/25 recommendations received a median score > 90 and after discussion and second round of surveys all 25 recommendations received a median score of 100. We present a consensus evidence-based framework for managing parenteral and enteral nutrition, somatic growth, gastroesophageal reflux disease, chylothorax, and long-term follow-up of infants with CDH.

Use of autologous pericardial patch graft for treatment of large congenital peritoneopericardial diaphragmatic hernia in two cats

AbstractPeritoneopericardial diaphragmatic hernia is a congenital structural anomaly that results in a communication between the pericardial sac and the peritoneal cavity. About 50% of cats are asymptomatic at the time of diagnosis, and the remaining animals may show respiratory (dyspnoea, tachypnoea, exercise intolerance), gastrointestinal, cardiac tamponade or non‐specific clinical signs. Median celiotomy for herniorrhaphy without tension (primary closure, muscle flaps, synthetic mesh, pericardium) is the treatment of choice for symptomatic patients. Two cats were referred with respiratory signs, secondary to a peritoneopericardial diaphragmatic hernia. A pericardial patch graft was obtained and sutured to the diaphragm as an alternative technique to close the large defect and not cause excessive tension on the diaphragm and caval foramen. Patients recovered well without any complications after surgery. Re‐examination and thoracic radiographs at 1 week, 2 weeks, 3 months, 6 months and 3 years postoperatively showed no signs of recurrence and the patients remained asymptomatic.

Disease severity impacts perceived quality of life in congenital diaphragmatic hernia: a prospective observational study

BackgroundWhile research indicates comparable quality of life (QOL) in congenital diaphragmatic hernia (CDH) and healthy populations, the effect of CDH severity on patients’ health perceptions remains unexplored. We aimed to...

Endothelial-to-Mesenchymal Transition in Human and Murine Models of Congenital Diaphragmatic Hernia

Introduction: Congenital diaphragmatic hernia (CDH) is a complex congenital disorder, characterized by pulmonary hypertension (PH) and hypoplasia. PH secondary to CDH (CDH-PH) features devastating morbidity and mortality (25–30%) among neonates. An unmet need is determining mechanisms triggering CDH-PH to save infants. Prior data suggest abnormal remodeling of the pulmonary vascular extracellular matrix (ECM), presumed to be driven by endothelial-to-mesenchymal transition (EndoMT), hinders postnatal vasodilation and limits anti-PH therapy in CDH. There are limited data on the role of EndoMT in CDH-PH. Methods: The purpose of the study was to investigate how EndoMT contributes to CDH-PH by identifying cells undergoing EndoMT noted by alpha smooth muscle actin (α-SMA) expression in human umbilical vein endothelial cells (HUVECs) and lung tissue obtained from murine pups using the nitrofen model. N = 8 CDH, N = 8 control HUVECs were stained for α-SMA and CD31 after being exposed for 24 h to TGFB, a known EndoMT promoter. N = 8 nitrofen, N = 8 control murine pup lungs were also stained for α-SMA and CD31. α-SMA and CD31 expression was quantified in HUVECs and murine tissue using Fiji imaging software and normalized to the total number of cells per slide noted by DAPI staining. Results: CDH HUVECs demonstrated a 1.1-fold increase in α-SMA expression (p = 0.02). The murine model did not show statistical significance between nitrofen and control pup lungs; however, there was a 0.4-fold increase in α-SMA expression with a 0.8-fold decrease in CD31 expression in the nitrofen pup lungs when compared to controls. Conclusion: These results suggest that EndoMT could potentially play a role in the ECM remodeling seen in CDH-PH.

Multimodal radiology diagnostics for recurrent congenital diaphragmatic hernia in a child with congenital heart disease: clinical case

Congenital diaphragmatic hernia (CDH) is a severe congenital malformation that occurs as a result of delayed closure of the pleuroperitoneal canal or the diaphragm failure, which leads to the displacement of abdominal organs into the thoracic cavity. Timely diagnosis of recurrent diaphragmatic hernia in the long-term period causes great difficulties. The article presents a clinical observation of a 1-year-and-8-months old female patient operated on for false congenital diaphragmatic hernia and congenital heart defect during the newborn period. Chest X-ray at the outpatient stage allowed diagnosing a relapse of CDH and determining the urgency of hospitalization. In the hospital, the diagnosis was confirmed by computed tomography, surgical treatment was performed.