Left Diaphragmatic Hernia Research Articles

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The diagnosis of Bochdalek hernia (left diaphragmatic hernia) was eventually made in a 17-month-old malnourished child presenting with fever, persistent vomiting and shortness of breath. The clinical and diagnostic implications of the diaphragmatic hernias are discussed.

S2895 A Rare Case of Inferior Pancreaticoduodenal Artery Pseudoaneurysm Rupture Following Endoscopic Retrograde Cholangiopancreatography

Introduction: Hemorrhage is a known potential complication of endoscopic retrograde cholangiopancreatography (ERCP), often occurring at the site of sphincterotomy. Less commonly, intra- and retroperitoneal hemorrhage can occur secondary to splenic, hepatic, or vascular injury. Here we present a rare case of inferior pancreaticoduodenal artery (IPDA) pseudoaneurysm (PSA) rupture following ERCP in a patient with a large diaphragmatic hernia. Case Description/Methods: The patient is a 68 year old man with a history of hypertension, chronic kidney disease, and splenectomy. He presented with jaundice, fatigue, and labs notable for hypoglycemia, acidemia, acute kidney injury, normal transaminase levels, alkaline phosphatase (129 IU/L), total bilirubin (4.2 mg/dL), direct bilirubin (2.5 mg/dL), and lipase (157 IU/L). Computed tomography (CT) with contrast revealed choledocholithiasis with a 1.2 cm stone in the head of the pancreas associated with pneumobilia, intra- and extrahepatic ductal dilation, and pancreatic ductal dilation. A large left diaphragmatic hernia with protrusion of nonobstructed loops of large and small bowel into the left hemithorax was also noted. He underwent ERCP with biliary sphincterotomy and removal of one stone. One large stone remained. A plastic stent was placed in the common bile duct with plans to repeat ERCP in 4-6 weeks with cholangioscopy and electrohydrolic lithotripsy. Following ERCP, the patient developed acutely worsening anemia without overt evidence of lumenal gastrointestinal bleeding. CT angiography revealed active extravasation and a PSA within an intra-abdominal hematoma (18.4 x 8.5 cm). The patient then underwent mesenteric angiography which showed one multilobulated (2 x 1.8 cm) and one smaller PSA arising from an IPDA branch. Coil embolization of the dominant PSA was performed, achieving hemostasis. (Figure, Table) Discussion: Visceral artery aneurysm (VAA) rupture is an exceedingly rare complication of ERCP with IPDA pseudoaneurysms accounting for just 2% of VAA. Although there is a known association of VAA with pancreatitis, the mechanism for PSA formation following ERCP is unclear. It is thought to be associated with sphincterotomy with rupture caused by direct mechanical injury related to pancreaticobiliary manipulation. Mortality related to VAA rupture and hemorrhage can be as high as 19%. A high index of suspicion and early detection followed by angioembolization are critical for reducing mortality.Figure 1.: (A) CT with contrast showing choledocholithiasis with a 1.2 cm stone in the head of the pancreas. (B) CT angiography showing active extravasation and a pseudoaneurysm (PSA) within an intra-abdominal hematoma (18.4 x 8.5 cm). (C) Mesenteric angiography which showed one multilobulated (2 x 1.8 cm) and one smaller PSA arising from an inferior pancreaticoduodenal artery branch. Table 1 - Summary of currently available case reports of inferior pancreaticoduodenal artery (IPDA) pseudoaneurysm (PSA) development following endoscopic retrograde cholangiopancreatography (ERCP) Age/Sex Comorbidities ERCP Indication Interventions Symptom Diagnosis Treatment Al-Jeroudi et al 2001 76 F None Palliation of pancreatic carcinoma Precut sphincterotomy, biliary stent Abdominal pain IPDA PSA Embolization Rim et al 2021 27 M Sickle cell disease Choledocholithiasis Sphincterotomy, stone extraction, biliary stent, pancreatic duct stent Abdominal pain, acute anemia IPDA PSA rupture Embolization Current Case 68 M Hypertension, chronic kidney disease, diaphragmatic hernia Choledocholithiasis Sphincterotomy, stone extraction, biliary stent Abdominal pain, acute anemia IPDA PSA rupture Embolization

Utility of the sonographic syndromic pattern approach in diagnosis of aneuploidy in a low resource setting: case report

Background: Aneuploidies pose a diagnostic challenge in low resource settings where diagnostic tests are unavailable or costs are beyond the reach of many. This provides a clinical challenge in case management and counselling for women with foetuses carrying multiple congenital anomalies. A pragmatic approach in the management of foetal medicine cases in these settings becomes imperative.
 Design: Screening survey and diagnostic test, the well accepted standard for Aneuploidy screen and laboratory tests. In this case we seek to illustrate the use of ultrasound in low resource setting where diagnostic tests are expensive and inaccessible.
 Setting: This was a hospital-bases case in a low-income setting.
 Subjects: A 45-year-old woman in her first pregnancy was referred at 20 weeks gestation to the Fetal Medicine Unit (FMU) with an ultrasound scan diagnosis of exomphalos.
 Intervention: A syndromic pattern approach was used in making a clinical diagnosis of trisomy 18 in a setting with ultrasound equipment and well-trained personnel. The syndromic pattern approach recognises that the common aneuploids such as Trisomy 21, 18 and 13, Monosomy X and Triploidy have a set of foetal malformations that accompany each of the syndromes.
 Main Outcome Measures: Diagnosis of Aneuploidy
 Results: A large exomphalos containing bowel and liver was identified. Additional abnormalities were identified which included bilateral mild ventriculomegaly, choroid plexus cysts, left diaphragmatic hernia, atrioventricular septal defect, and kyphoscoliosis of the thoracolumbar vertebrae.
 Conclusion: The case illustrates the utility of the sonographic syndrome approach in managing pregnancy with multiple foetal defects in low-resource settings.
 Core Tip: Aneuploidies pose a diagnostic challenge in low resource settings where diagnostic tests are unavailable or costs are beyond the reach of many. We report a case in which a sonographic syndromic pattern approach was used in making a clinical diagnosis of trisomy 18 in a setting with ultrasound equipment and well-trained personnel. This approach helps with case management and patient counselling.

A Strangulated Congenital Diaphragmatic Bochdalek Hernia Diagnosed in an Adult

Although Bochdalek hernias are uncommon in adults and difficult to diagnose, such congenital diaphragmatic hernias (CDHs) are some of the most serious malformations among newborns. In particular, CDHs are accompanied by high mortality and marked disability later in life due to concomitant morbidity (i.e., caused by pulmonary lung hypoplasia and persisting pulmonary hypertension of neonates) and require long-lasting neonatal treatment in an intensive care unit. Late-diagnosed CDHs are extremely rare and always show small defects that justify a better prognosis than CDHs with large defects. In most cases, such CDHs go undiagnosed due to their mild, delayed symptoms. In the case described here, an 18-year-old Asian male presented with abdominal pain and a bowel contour in the epigastric region and left upper quadrant. A chest X-ray and thoracoabdominal computerized tomography scan confirmed the diagnosis of bowel obstruction due to a left diaphragmatic hernia. Moreover, a defect was revealed in the posterolateral left diaphragm, and the transverse colon, spleen, and half of the stomach had herniated through it. A segmentectomy was performed on the transverse colon, followed by an end-to-end anastomosis, a diaphragmatic plasty, and the placement of an intrapleural catheter. In conclusion, diagnosing a diaphragmatic hernia before surgery can be difficult due to its rarity and wide range of symptoms. Although prenatal diagnosis using ultrasonography is possible in up to 80% of fetuses, that method may not be available in all regions in Indonesia or in all countries, where doctors thus continue to face a diagnostic challenge when dealing with CDHs.

Prenatal diagnosis of Coffin-Siris syndrome: What are the fetal features?

To present both our center's and previously reported experience of prenatal diagnosis of Coffin-Siris syndrome (CSS) with regard to the laboratory testing and fetal features of this syndrome. This was a retrospective study of eight pregnancies with fetal CSS identified by prenatal or postnatal genetic testing. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, chromosomal microarray and exome sequencing (ES) results, and pregnancy outcomes. A total of eight cases of fetal CSS based on molecular testing were detected. Two cases presented with an increased nuchal translucency (NT) in the first trimester. The remaining six were identified at the second trimester scan. Agenesis of the corpus callosum (ACC) was the most common sonographic finding, accounting for 5/7 (71.4%) cases in which a second trimester sonogram was performed: four had ACC as an isolated finding, and one had additional features of cerebellar hypoplasia and left congenital diaphragmatic hernia. CSS should be included in the differential diagnosis when ACC is found by prenatal ultrasound. Both chromosomal microarray and ES should be options when counseling patients with a structurally anomalous fetus.

Mediastinal Shift Angle in Fetal MRI Is Associated With Prognosis, Severity, and Cardiac Underdevelopment in Left Congenital Diaphragmatic Hernia.

Objective:Fetal MRI has played an essential role in the evaluation and management of congenital diaphragmatic hernia (CDH). We aimed to investigate whether the mediastinal shift angle (MSA) value was associated with the prognosis and the severity of left CDH and explore the relationship between the MSA value and fetal and neonatal cardiac structures and functions.MethodsFrom January 2012 to December 2020, the fetal MSA values of left CDH in our institution were retrospectively measured. Other prenatal parameters and clinical outcomes of them are collected. We also measured the fetal and postnatal echocardiography parameters to analyze linear correlation with MSA values.ResultsA total of 94 patients with left CDH were included. MSA was significantly higher in the deceased group than in the survived group [((38.3 ± 4.7)° vs. 32.3 ± 5.3)°, p < 0.001]. The MSA value of the high-risk defect group [CDH Study Group (CDHSG) C/D type] was significantly higher than that of the low-risk defect group [CDHSG A/B type; (36.0 ± 4.9)° vs. (30.1 ± 4.8)°, p < 0.001]. The AUC for severity was 0.766 (95% CI, 0.661–0.851, p < 0.0001) and the best cut-off value for MSA was 30.7°. Higher MSA correlates with decreased fetal Z-score of left ventricle (LV) width, the diameter of the mitral valve (MV), peak velocity of MV and tricuspid valve (TV), and neonatal LV end-diastolic diameter (LVEDD) and velocity of tricuspid regurgitation (TR; p < 0.05).ConclusionA high MSA value can effectively predict high-risk defects and high mortality of left CDH. The higher the MSA value, the worse the neonatal conditions, the respiratory and cardiovascular prognosis. The MSA values could reflect the level of left heart underdevelopment, including decreased dimensions and diastolic dysfunction of the left ventricle.

Anterolateral defect of left congenital diaphragmatic hernia with hepatic herniation

Anterolateral defect of the diaphragm is an extremely rare type of congenital diaphragmatic hernia (CDH). We report our experience with a rare anterolateral type of CDH. His birth weight was estimated as 2700 g. A CDH was suspected on fetal ultrasound at 20 weeks' gestation. Fetal MRI performed at 34 weeks and 1 day of gestation showed elevation of the intestinal tract, stomach, and outer left lobe of the liver. A boy was delivered by caesarian section at 37 weeks and 0 days of gestation. Surgery was performed on the fourth day after delivery. The dorsal muscle bundle was well developed, but the ventral diaphragm was deficient, and a diagnosis of anterolateral type CDH was made. The size of the diaphragmatic defect was 5 × 3 cm. On the 15th day after surgery, the tracheal tube was extubated, and the patient was discharged 51 days after delivery. The patient is still being followed up, but no signs of recurrence have been observed. We experienced a case of an unusual form of left anterolateral CDH. The postnatal course was relatively stable, although a severe form was predicted due to the presence of hepatic elevation.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Genome-wide sequencing is increasingly being performed during pregnancy to identify the genetic cause of congenital anomalies. The interpretation of prenatally identified variants can be challenging and is hampered by our often limited knowledge of prenatal phenotypes. To better delineate the prenatal phenotype of Coffin-Siris syndrome (CSS), we collected clinical data from patients with a prenatal phenotype and a pathogenic variant in one of the CSS-associated genes. Clinical data was collected through an extensive web-based survey. We included 44 patients with a variant in a CSS-associated gene and a prenatal phenotype; 9 of these patients have been reported before. Prenatal anomalies that were frequently observed in our cohort include hydrocephalus, agenesis of the corpus callosum, hypoplastic left heart syndrome, persistent left vena cava, diaphragmatic hernia, renal agenesis, and intrauterine growth restriction. Anal anomalies were frequently identified after birth in patients with ARID1A variants (6/14, 43%). Interestingly, pathogenic ARID1A variants were much more frequently identified in the current prenatal cohort (16/44, 36%) than in postnatal CSS cohorts (5%-9%). Our data shed new light on the prenatal phenotype of patients with pathogenic variants in CSS genes.

Congenital diaphragmatic hernias repair is feasible in peripheral hospitals

Laparoscopic repair of congenital diaphragmatic hernias can be done in suitable infants and children with good long-term results. The benefits includes lower risk of infection, less intra-abdominal adhesions and early recovery, while being a «scar-less» procedure. Materials and methods. The 3 patients included a 9-months-old infant with a late presentation of Bochdalek left diaphragmatic hernia, and 2 patients with Morgagni congenital diaphragmatic hernia - a 1-year-old infant and a 3-year-old toddler. All procedures were performed in abdominal approach using 3- and 5-mm ports, and a 5-mm 30 degrees camera. Suturing of the diaphragmatic defect was done with unabsorbed materials (Ethibond® 4.0). Results. No intra-operative complications were noted, all patients recovered quickly and uneventfully, and were discharged between 3-6 postoperative day. Follow-up period is now between 3-23 months and so far there is no evidence of recurrence. Conclusions. Laparoscopic surgery is used more and more in smaller cavities by pediatric surgeons. Laparoscopic repair of congenital diaphragmatic hernias in infants and toddlers can safely be performed in peripheral hospitals by skilled pediatric surgeons with good results. However, our follow-up period is relatively short, and because of common recurrence rate in those patients, 15-40% in different reports, both in laparoscopic and open repair, long term follow-up is required. The research was carried out in accordance with the principles of the Helsinki declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors. Key words: children, laparoscopic repair, congenital diaphragmatic hernias.

Snapshots quiz.

A 76-year-old male with a known left diaphragmatic hernia presented with acute shortness of breath, vomiting and diarrhoea for five days. A chest computed tomography was performed. What is the diagnosis?

Laparoscopic repair of acute traumatic diaphragmatic hernia with mesh reinforcement: A case report.

Introduction and importanceTraumatic diaphragmatic injuries are rare and usually occur after thoracoabdominal trauma. Most patients will have other potentially life-threatening injuries. High index of suspicion is the most important attribute. Unfortunately, it is incorrectly diagnosed in up to 33% of cases. If left untreated, the onset of complications carries mortality rates between 25 and 80%.Case presentationWe report a case of an acute diaphragmatic laceration in a 29-year-old male with thoracoabdominal trauma due to a road traffic accident. Physical examination revealed an absence of normal breath sounds in the left hemithorax. CT-scan confirmed a voluminous left diaphragmatic hernia with omental, gastric, and transverse colon content, so surgical intervention was advised. During laparoscopy, a 15 cm long and 5 cm wide diaphragmatic defect was identified. The hernia was reduced laparoscopically, and the defect repaired with interrupted non-absorbable sutures. As a reinforcement, a visceral contact prosthesis was placed. The patient had an uneventful recovery and after 12-month follow-up he has no evidence of recurrence.Clinical discussionDiaphragmatic injuries do not close spontaneously. An abdominal approach is recommended as it allows for evaluation of the entire abdomen and treatment of any associated injury. Watertight closure with nonabsorbable suture and in case of large defects, the placement of a mesh on the peritoneal side of the diaphragm is recommended to reinforce the primary repair.ConclusionLaparoscopic emergency surgery has proved to be effective and safe in selected patients with hemodynamic stability. Patients can expect the benefits of minimal invasive surgery with recurrence rate like the open approach.

Image-based prenatal predictors correlate with postnatal survival, extracorporeal life support use, and defect size in left congenital diaphragmatic hernia.

To evaluate the association between prenatal imaging predictors of patients with left-sided congenital diaphragmatic hernia (LCDH) and postnatal outcomes. CDH study group data were reviewed for LCDH infants born 2015-2019. Prenatal ultrasound (US) and magnetic resonance imaging (MRI) data were collected and correlated with postnatal information including CDHSG defect size (A through D or non-repair (NR)). In total, 929 LCDH patients were included. Both US and MRI imaging predictors correlated with postnatal survival (72.2%) and ECLS use (29.6%). Logistic regression models confirmed increased survival and decreased ECLS use with larger values for all predictors. Importantly, all prenatal values evaluated showed no significant difference between defect size D and NR patients. This is the largest cohort of LCDH patients and demonstrates that prenatal imaging factors correlate with postnatal outcomes and confirms that patients in the non-repair group are prenatally similar to type D defects.

Randomized Trial of Fetal Surgery for Severe Left Diaphragmatic Hernia

(Engl J Med. 2021;385:107–118) Congenital diaphragmatic hernia (CDH) can lead to serious lifelong complications, but may be treated if diagnosed before birth. In fetoscopic endoluminal tracheal occlusion (FETO), a balloon is inserted into the fetal trachea in utero to stimulate fetal lung growth and is removed prior to birth. One study of 210 fetuses undergoing FETO for severe lung hypoplasia due to isolated CDH found a nearly doubled survival rate among fetuses who received FETO compared with controls (49% vs. 24%). This current study, Tracheal Occlusion to Accelerate Lung Growth (TOTAL), aimed to test whether fetuses with surgical treatment of severe left CDH had superior survival rates compared with fetuses who received expectant prenatal care.

Randomized Trial of Fetal Surgery for Moderate Left Diaphragmatic Hernia

(N Engl J Med. 2021;385:119–129) Congenital diaphragmatic hernia (CDH) can lead to pulmonary hypoplasia and is associated with serious neonatal complications and death. In infants with severe left diaphragmatic hernia, fetoscopic endoluminal tracheal occlusion (FETO) has been associated with greater survival rates but also higher rates of premature birth. This study aimed to determine the effects of FETO on pregnancies affected by moderate CDH compared with expectant prenatal care.

EBNEO commentary: Foetal surgery for severe left diaphragmatic hernia.

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Current status of foetal surgery for moderate or severe isolated left congenital diaphragmatic hernia

Current status of foetal surgery for moderate or severe isolated left congenital diaphragmatic hernia

Little Old Lady’s Hernia with Hiatus Hernia- A Case Report

With the outbreak of the Coronavirus Disease-2019 (COVID-19) pandemic, it is not uncommon to see patients who present with respiratory symptoms secondary to an abdominal pathology, being suspected of having COVID-19. Here, authors report a case of an elderly female who presented with recent-onset dyspnoea, shortness of breath, pain abdomen and non passage of flatus and stools. Examination revealed that the patient had tachycardia, tachypnoea, and dyspnoea with an oxygen saturation (SpO2) of 92%. Her abdomen was distended, non tender with no free fluid detected. All the hernial orifices were free. Computed Tomography (CT) scan revealed a left diaphragmatic hernia and a left-sided obturator hernia with obstructed ileal segment. However, intraoperatively a Type IV hiatus hernia was discovered, where the Gastrooesophageal (GE) junction, stomach, colon, and omentum were the contents. This case highlights an unusual clinical presentation of a rare cause of intestinal obstruction and its management during the COVID-19 pandemic. Obstructed obturator hernia is associated with high morbidity and mortality.

Left diaphragmatic hernia due to muscle rupture after hypopressive abdominal gymnastics

Left diaphragmatic hernia due to muscle rupture after hypopressive abdominal gymnastics

Fetal Surgery for Moderate Left Diaphragmatic Hernia: A Cost-Effectiveness Analysis

A recent randomized trial highlighted the improved maternal and neonatal outcomes with fetoscopic endoluminal tracheal occlusion (FETO) surgical repair of moderate (observed-to-expected lung-to-head ratio of 25-34%), left congenital diaphragmatic hernia (CDH) over expectant care. Our goal was to demonstrate the cost effectiveness of the FETO surgical strategy, accounting for infant survival to discharge from neonatal intensive care unit (NICU).

Fetal Surgery for Severe Left Diaphragmatic Hernia: A Cost-Effectiveness Analysis

A recent randomized trial highlighted the improved maternal and neonatal outcomes associated with fetoscopic endoluminal tracheal occlusion (FETO) surgical repair of severe left congenital diaphragmatic hernia (CDH) over expectant care. Our goal was to demonstrate the cost-effectiveness of the FETO surgical strategy, accounting for infant survival to discharge from neonatal intensive care unit (NICU) and pregnancy complications.