A Congenital Diaphragmatic Hernia Associated with Pectus Excavatum and Dextrocardia without Situs Inversus. A Rare Presentation in a 6-week Old Infant

Background; Congenital diaphragmatic hernia is a life-threatening condition caused by a defect in the diaphragm, allowing abdominal organs to herniate into the thoracic cavity, leading to pulmonary hypoplasia and respiratory distress. The association of congenital diaphragmatic hernia with pectus excavatum and dextrocardia without situs inversus is exceptionally rare. Dextrocardia in this context results from a primary cardiac malformation. Early recognition and prompt surgical intervention are crucial to prevent severe complications and improve survival outcomes. Case Presentation; We report a six-week-old infant presenting with features of cardiopulmonary distress. The baby exhibited tachypnea (respiratory rate: 75 breaths/min), tachycardia (pulse rate: 185 beats/min), and mild desaturation (96% on oxygen therapy via nasal prongs). On physical examination revealed a normal abdominal contour with normal bowel sounds. Chest Computed Tomography scan and echocardiography confirmed left-sided congenital diaphragmatic hernia with pectus excavatum, and dextrocardia without situs inversus. The patient underwent an emergency laparotomy, where intraoperative findings included a significant diaphragmatic defect with herniated abdominal viscera within the thoracic cavity. Surgical repair involved reduction of herniated contents and primary diaphragmatic closure. Postoperatively, the infant received ventilatory support, intravenous fluids, and antibiotics. The recovery was uneventful, with gradual weaning off respiratory support and subsequent discharge in stable condition. Discussion; The incidence of CDH is approximately 1 in 4,000 births, with Bochdalek hernia being the most common type (85%). Delayed surgical intervention increases the risk of life-threatening complications. Conclusion; This rare case highlights the importance of early diagnosis, multidisciplinary management, and timely surgical intervention for optimal outcomes.

Congenital diaphragmatic hernia (CDH) with pectus excavatum and dextrocardia is a rare congenital anomaly results from incomplete fusion or closure of the pleuroperitoneal canal during fetal development, leading to a defect in the diaphragm that allows abdominal organs to herniate into the thoracic cavity 1 . . Pectus excavatum refers to a sunken chest deformity, while dextrocardia without situs inversus refers to the abnormal positioning of the heart on the right side of the chest, with other thoracoabdominal organs remaining in their normal anatomical locations. Dextrocardia is uncommon, with an estimated incidence of 1 in 12,000 births, and it is often associated with other structural anomalies 2 . CDH is typically diagnosed prenatally or in the neonatal period, but in some cases, the diagnosis may be delayed, and patients present later with respiratory or gastrointestinal symptoms. The overall incidence of CDH is approximately 1 in 3,000 to 5,000 live births. While the majority of cases are diagnosed early, delayed presentations occur in 5% to 10% of affected individuals 2,3 . These cases may present with respiratory distress due to pleural effusion, gastrointestinal obstruction from herniated bowel loops, or, in rare cases (1%), may be asymptomatic and diagnosed incidentally on imaging. Despite advancements in medical and surgical management, CDH remains associated with high morbidity and mortality due to pulmonary hypoplasia, persistent pulmonary hypertension, and associated congenital anomalies. But occasionally, the diagnosis of Congenital diaphragmatic hernia (CDH) can be missed, and children can present later with acute respiratory or gastrointestinal symptoms. An overall incidence of congenital diaphragmatic hernia is 1 in 3,000-5,000 live births 3,4 . Of the affected neonates, the presentation after infancy occurs in 5% to 10% and presents with respiratory distress due to either pleural effusion or gastrointestinal distress from intestinal obstruction while 1% of the affected cases can be asymptomatic and the diagnosis can be discovered incidentally on imaging. Mortality from congenital diaphragmatic hernia still high despite development in medical and surgical management of congenital diaphragmatic hernia 9,11 . A large CDH with associated dextrocardia presents a significant surgical challenge and requires emergency intervention. We report a rare case of a six-week-old female infant with CDH involving herniation of the liver, spleen, stomach, and transverse colon into the thoracic cavity. She underwent emergency laparotomy with successful hernia repair. This case report was prepared following the Surgical CAse REport (SCARE) Guidelines to ensure transparency and completeness in reporting 12 CASE PRESENTATION We present a 6-weeks-old female baby who was referred to our facility from a regional hospital due to vomiting and difficulty in breathing, which was associated with dyspnea, increased heartbeat and obvious chest deformity with a history of being on oxygen therapy for 2 weeks before being admitted to our facility. She was able to pass stool normally. The baby was born at term by SVD with a birth weight of 2300 grams. She received all immunizations as per local guidelines. On arrival, generally, the patient was sick-looking, not pale, not cyanotic, tachypneic and tachycardic requiring a continuous positive airway pressure mask to improve ventilation and reduce the effort of breathing. She had a sunken chest at the sternal area which was confirmed to be a chest deformity by a non-contrasted CT scan of the chest. The deepest point of the sternal depression was at the mid-sternum level. Findings were consistent with mild pectus excavatum, with a Haller Index of 2.3, and dextrocardia was present in figure 1. Her blood pressure was 98/60 mmHg, pulse rate 185 beats per minute, respiration rate 75 breaths per minute, and saturating at 96% on oxygen with nasal prongs. Systemic examination: The abdomen was not distended with normal bowel sounds. On auscultation, the heart sounds were heard on the right side of the chest with reduced air entry on the left side of the chest, the apex beat was appreciated at six intercostal space on the right side of the chest. A non-contrast CT scan of the abdomen and chest revealed a large defect in the left hemidiaphragm consistent with a congenital diaphragmatic hernia (Bochdalek-type, posterolateral defect), the stomach, transverse colon, spleen, and a portion of the left lobe of the liver were herniated into the left thoracic cavity, compressing the left lung. There was a significant volume reduction in the left lung. No pleural effusion or pneumothorax was detected. The heart is abnormally displaced to the right thoracic cavity (dextrocardia) with no evidence of situs inversus Figure 2. A surgical plan was recommended. On the ultrasonography of the abdomen and chest, situs solitus was noted with a left-sided posterolateral large diaphragmatic hernia. An echocardiogram showed a dextrocardia with good biventricular function. Hematologically, her complete blood count revealed microcytic hypochromic anemia of 10 g/dl with a normal leukocyte count of 10х109/L and a normal platelet count of 445х109/L. The serum creatinine 48 μmol/l, serum sodium 147 mmol/L, serum potassium 4.5mmol/L, aspartate aminotransferase 30.5 U/l, and alanine aminotransferase 10.7 U/l. The patient was admitted in sub-ICU for close monitoring and resuscitation. She was given preoperative IV Ceftriaxone 230 mg and Metronidazole 35mg mg and was taken for an emergency hernia repair. Intraoperatively the approach was through abdomen with left subcostal incision. Abdomen was opened, the hernia was identified on the posterolateral area of the diaphragm. Figure 3A illustrates a portion of the left lobe of the liver and the stomach herniated through a congenital diaphragmatic defect (Bochdalek hernia) into the thoracic cavity. Following surgical exploration, the transverse colon and the spleen were also identified as additional herniated organs within the same diaphragmatic defect. The spleen and transverse colon were carefully reduced from the thoracic cavity with gently traction. Both spleen and transverse colon appeared normal upon inspection, with no evidence of ischemia or structural abnormalities figure 3B. After a successful reduction of herniated organs, the defect was measured to be approximately 4cms х 6cms Figure 4A. A thorough assessment of the pleural space was done, and there was no fluid collection in the pleural space. A congenital diaphragmatic defect Figure 4B was repaired using a silk suture. The abdomen was cleaned thoroughly with warm saline. Abdominal organs were returned to their normal anatomical position, and the abdomen was closed in layers. The chest thoracostomy tube was not kept, and hemostasis was achieved. No complications were encountered intraoperatively. The patient recovered immediately from anesthesia after reversal, followed by early winning from the ventilator machine. The patient was sent to the pediatric intensive care unit for close observation, monitoring, and other post-operative care. 24 hours postoperatively the patient was reviewed in the ICU and fared well. A control chest x-ray was done after 72 hours following surgery Figure 5. She stayed in the ICU for almost five days and was considered to be discharged and to return to the surgical clinic after 2 weeks.

.Congenital diaphragmatic hernia (CDH) is typically diagnosed in children presenting with respiratory distress or abdominal discomfort. The overall incidence is approximately 1 in 3,000 to 5,000 live births, with left-sided Bochdalek hernias (85%) being the most common due to the earlier closure of the right pleuroperitoneal canal and the protective presence of the fetal liver 1 . The defect creates a pathway for intra-abdominal structures to herniate into the thoracic cavity. Diaphragmatic defects are mainly classified anatomically into three main types: posterolateral (Bochdalek) hernia, which is the most common type (80-90% of cases), anterior parasternal or retrosternal (Morgagni) hernia, and Central hernia. The foramen of Bochdalek is an opening in the posterolateral diaphragm during fetal development and typically closes by the 7 th to 8 th week as the pleuroperitoneal membranes fuse with the septum transversum. Failure to close can result in an opening (hernia), which was first described by Bochdalek in 1848 3,8 . Our child presented with a left posterolateral hernia. Sometimes, a congenital diaphragmatic hernia can cause abnormal pulmonary vascular development and altered vasoreactivity 1,2 . In the affected child, pulmonary hypertension can complicate a congenital diaphragmatic hernia and is strongly associated with increased morbidity and mortality 2,3 . Most adult cases present with chronic nonspecific symptoms, including chest pain, dyspnea, vague abdominal pain, and postprandial fullness. Incidental findings or diagnoses are made during radiological studies because mostly are sometimes asymptomatic 4,9 . The classical features associated with a bochdalek hernia, particularly in infants, is apparent respiratory distress, scaphoid abdomen which were seen in our case. Other associated features include epigastric distension, unproductive retching, and inability to pass the nasogastric tube are rarely seen in neonates and infants 5,6 . Diagnosis is confirmed using chest and abdominal radiographs, which typically reveal air-fluid levels in the thoracic cavity and soft tissue density in the upper abdomen. Advanced imaging, such as CT scans or barium contrast studies, may be necessary for cases with atypical presentations 7 . Surgical Approach: Thoracotomy vs. Laparotomy; Surgical intervention is essential for CDH and involves reduction of herniated organs and repair of the diaphragmatic defect. The two main approaches are thoracotomy and laparotomy, each with distinct advantages, disadvantages, and indications. Thoracotomy Approach Advantages: • Can be performed using minimally invasive thoracoscopic techniques, reducing morbidity • Provides direct visualization of intrathoracic adhesions, which may facilitate better mobilization of herniated organs. • Allows for optimal lung expansion and assessment of pulmonary hypoplasia. • Preferred for large or recurrent hernias, as it enables better control over adhesions and restoration of diaphragmatic function. . Disadvantages: • More invasive and associated with higher postoperative pain and longer recovery time compared to laparotomy. • Higher risk of thoracic complications, including pneumothorax, pleural effusion, or lung injury. • Difficult access to the abdominal cavity, making it less ideal for managing gastrointestinal complications. Laparotomy Approach Advantages: • Provides better access to intra-abdominal structures, making it the preferred approach when there are intestinal complications such as obstruction, volvulus, or ischemia. • Less risk of thoracic complications (e.g., pneumothorax, pleural effusion). • Enables concurrent gastrostomy or gastropexy to prevent postoperative gastric volvulus. • Often favored in neonates and infants, where pulmonary hypoplasia is severe and reducing abdominal contents may improve lung function. Disadvantages: • Limited access to intrathoracic adhesions, which may make organ reduction more difficult in late-presenting cases. • Higher risk of postoperative gastroesophageal reflux due to disruption of normal diaphragmatic anatomy. • More challenging to evaluate lung expansion and residual intrathoracic pathology compared to thoracotomy. Recommendations for Choosing Between Thoracotomy and Laparotomy ; The choice of thoracotomy vs. laparotomy should be guided by the patient’s age, size of the hernia, associated complications, and presence of adhesions. Thoracotomy is preferred for large or recurrent hernias, cases with significant intrathoracic adhesions, or when direct lung assessment is required. It is often used for late-presenting cases where pulmonary development needs to be evaluated . Laparotomy is recommended when abdominal complications such as volvulus, bowel ischemia, or obstruction are present. It is also favored in younger infants, where early reduction may improve lung expansion 8,11 . Minimally invasive thoracoscopic or laparoscopic approaches should be considered in stable patients with smaller defects, as they reduce surgical trauma and recovery time 13,14 . Case-Specific Considerations ; In our patient, the decision was made to perform a laparotomy due to the significant herniation of the liver, spleen, stomach, and transverse colon, necessitating careful reduction and evaluation of abdominal organ viability. Gastropexy was not performed, as the stomach was well-aligned post-reduction without redundancy. Delayed surgical intervention can result in severe complications, including pneumothorax, gastrothorax, visceral torsion, incarceration, ischemia, peritonitis, and death. Hence, timely diagnosis and appropriate surgical selection are crucial for optimizing patient outcomes \fancypagestyle firstpage\fancyhf \lhead \chead \rhead \cfoot فروردین ماه ۱۴۰۴ CONCLUSION This case highlights the rare occurrence of dextrocardia without situs inversus in a large left-sided congenital diaphragmatic hernia, emphasizing the importance of early diagnosis and surgical intervention. Delayed or missed diagnoses are common due to the rarity of such presentations, underscoring the need for thorough prenatal screening and multidisciplinary management. Limited access to specialized referral centers remains a challenge, preventing timely diagnosis and treatment. Infants with congenital diaphragmatic hernia face significant respiratory and nutritional issues, requiring urgent surgical repair. Early recognition and prompt intervention are crucial for achieving favorable outcomes. SCARE guideline. The work has been reported in line with the SCARE criteria Ethical approval Ethical clearance was not necessary at our hospital (Muhimbili National Hospital) for a single case report. Guarantor All authors in the article accept full responsibility for the work, have access to the patient’s information, and decide to publish. Consent for publication Written informed consent was obtained from the parents for publication of this case report and the accompanying images. A copy of the written consent is available for review by the corresponding author of this journal. Funding No funds were needed to publish this case. Declaration of competing interest All authors declare that there are no conflicts of interest. Acknowledgment The authors express their sincere gratitude to all surgical and radiology members. To the patient for allowing us to proceed with academic publications Data availability The datasets of the present study are available from the corresponding author upon request.

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Authors Metrics & Citations Metrics Article Usage 489views 187downloads Citations Download citation Mathayo Shadrack, Nimwindael Stephen Msangi, Tariq Aziz, et al. A Congenital Diaphragmatic Hernia Associated with Pectus Excavatum and Dextrocardia without Situs Inversus. A Rare Presentation in a 6-week Old Infant. Authorea. 04 April 2025. DOI: https://doi.org/10.22541/au.174373925.51235673/v1 DOI: https://doi.org/10.22541/au.174373925.51235673/v1 If you have the appropriate software installed, you can download article citation data to the citation manager of your choice. Simply select your manager software from the list below and click Download. For more information or tips please see 'Downloading to a citation manager' in the Help menu.