Nº de DOI: 10.34896/RSI.2024.74.58.001
AUTHORS
- Joselyn Lizbeth García Acosta. General Practitioner. Attached to the Telimbela Health Center. Independent Researcher of the Research and Teaching Department Matilde Hidalgo of Procel. Graduate of the High Polytechnic School of Chimborazo. (Ambato-Ecuador). https://orcid.org/0009-0003-5185-4380
- Jason Paúl Ñacato Alarcón. General Practitioner. Attached to the Padre Alberto Buffony Basic Hospital. Graduated from the High Polytechnic School of Chimborazo. (Quito-Ecuador). https://orcid.org/0009-0004-7956-8762
- Stephanie Viviana Ramón Jaramillo. General Practitioner. Master in Occupational Health and Safety. Attached to the Loja Military Hospital. Graduated from the National University of Loja. (Loja -Ecuador). https://orcid.org/0009-0004-1731-7693
- Alex Javier Medina Bustos. General practitioner. Attached to the Guayllabamba Health Center. Graduated from the High Polytechnic School of Chimborazo. (Quito-Ecuador). https://orcid.org/0009-0000-8438-6446
- Alejandra Elizabeth Vasquez Fuel. General Practitioner. Attached to Private Clinics of Ecuador. Graduated from the Central University of Ecuador. (Quito-Ecuador). https://orcid.org/0009-0002-2571-9639
- Mayra Jaqueline Gavilanez Chancusig. General Practitioner. Master in Occupational Health. Attached to the Latacunga General Hospital. Graduated from the Autonomous Regional University of the Andes. (Latacunga-Ecuador). https://orcid.org/0009-0000-4098-9982
- César Vladimir Quirola Ruiz. General Practitioner. Attached to the San Luis of Otavalo Hospital. Graduated from the Central University of Ecuador. (Ibarra-Ecuador). https://orcid.org/0009-0002-9570-4088
ABSTRACT
This paper aims to provide a comprehensive overview of the etiology, clinical presentation, and management strategies for diaphragmatic hernia, thereby contributing to the existing body of knowledge and offering insights that may enhance patient outcomes and inform future research directions in this field.
KEY WORDS
Diaphragmatic hernia, congenital diaphragmatic hernia, acquired diaphragmatic hernia, hernia repair, and management of diaphragmatic hernia.
RESUMEN
Este artículo tiene como objetivo proporcionar una descripción general completa de la etiología, la presentación clínica y las estrategias de tratamiento de la hernia diafragmática, contribuyendo así al conjunto de conocimientos existente y ofreciendo conocimientos que pueden mejorar los resultados de los pacientes e informar futuras direcciones de investigación en este campo.
PALABRAS CLAVE
Hernia diafragmática, hernia diafragmática congénita, hernia diafragmática adquirida, reparación de hernia y tratamiento de la hernia diafragmática.
INTRODUCTION
Diaphragmatic hernia is a significant medical condition characterized by the abnormal displacement of abdominal contents into the thoracic cavity due to a defect in the diaphragm, which can be either congenital or acquired. The etiology of diaphragmatic hernia is multifaceted, encompassing congenital factors such as developmental anomalies during foetal growth, as well as acquired causes like trauma or increased intra-abdominal pressure that may lead to herniation later in life. Furthermore, ongoing research suggests that genetic predispositions and environmental influences may play crucial roles in the development of this condition, making it essential to understand the interplay of these factors. Clinically, diaphragmatic hernia presents with a range of symptoms that can vary widely in severity, often depending on the type and extent of the hernia, and may include respiratory distress, gastrointestinal complications, and other systemic manifestations. Accurate diagnosis is critical and typically employs advanced imaging techniques such as ultrasound, CT scans, or MRI, which have proven effective in identifying the presence and extent of the hernia. The management of diaphragmatic hernia remains a complex dilemma, with surgical options being the primary treatment modality; however, non-surgical management techniques are also explored, particularly in cases where surgery poses significant risks. Post-operative care is paramount in ensuring patient recovery and minimizing complications, necessitating a thorough understanding of the best practices in postoperative management.
OBJECTIVE
To provide an overview of the aetiology, clinical presentation and treatment strategies of diaphragmatic hernia, thereby contributing to the existing body of knowledge and offering insights that may improve patient outcomes and inform future research directions in the field.
METHODOLOGY
This scientific review aims to analyze and synthesize current research on diaphragmatic hernia, focusing on its etiology, clinical presentation, and management strategies. A comprehensive search of relevant literature is conducted using databases such as PubMed, Scopus, and Web of Science. The search terms include «diaphragmatic hernia», «congenital diaphragmatic hernia», «acquired diaphragmatic hernia», «hernia repair» and «management of diaphragmatic hernia.» The review focuses on studies published within the past 20 years to capture the most recent advancements in understanding and managing diaphragmatic hernias.
Inclusion criteria prioritize clinical studies, randomized controlled trials, cohort studies, systematic reviews, and case reports that explore both congenital and acquired forms of diaphragmatic hernia. Articles that examine the genetic, environmental, and mechanical factors contributing to the etiology of diaphragmatic hernias are included to provide a comprehensive understanding of the condition. Studies detailing the clinical presentation, including respiratory distress, gastrointestinal symptoms, and the severity of the hernia, are also considered. Exclusion criteria eliminate studies with insufficient data, small sample sizes, or non-peer-reviewed publications.
Selected articles are critically appraised for their methodological rigor, clinical relevance, and contributions to the understanding of diaphragmatic hernia. The findings are organized into thematic sections, covering the etiology of the condition, variations in clinical presentation based on age and type of hernia, and evidence-based management strategies. Special emphasis is placed on recent advancements in prenatal diagnosis, postnatal care, and long-term outcomes following surgical repair.
By synthesizing data from these sources, the review aims to provide a thorough overview of diaphragmatic hernia and its treatment, identifying current challenges and areas where further research is needed.
RESULTS
ETIOLOGY OF DIAPHRAGMATIC HERNIA:
What are the congenital factors contributing to diaphragmatic hernia?
Congenital diaphragmatic hernia (CDH) is primarily caused by the incomplete development of the foetal diaphragm during pregnancy, which results in an abnormal opening that allows abdominal organs to herniate into the thoracic cavity1,2. This herniation significantly disrupts the normal development of the lungs, leading to pulmonary hypoplasia and persistent pulmonary hypertension1,3. The congenital nature of this anomaly suggests a multifactorial etiology, encompassing genetic, environmental, and nutritional factors4. Genetic factors play a crucial role, as CDH can occur as part of genetic syndromes or due to chromosomal abnormalities, such as Pallister-Killian syndrome, 8p23.1 deletion syndrome, Fryns syndrome, and Cornelia de Lange syndrome2,4. Single-gene mutations, particularly in genes like GATA4 and LRP2, have also been implicated in the development of CDH4. Moreover, certain teratogenic agents, including mycophenolate mofetil, allopurinol, and lithium, when exposed during pregnancy, have been associated with an increased risk of CDH4. The clustering of CDH in families, although rare, indicates that specific inheritance patterns, such as autosomal recessive, autosomal dominant, and X-linked modes, might contribute to its occurrence2,3. Integrating these insights underscores the necessity for a comprehensive approach to understanding and managing CDH, which includes genetic counseling, prenatal screening, and targeted interventions to mitigate the associated complications.
How do acquired causes contribute to the development of diaphragmatic hernia?
In contrast to congenital diaphragmatic hernia, acquired diaphragmatic hernia (ADH) primarily results from physical trauma or surgical interventions. Trauma-induced diaphragmatic hernias are most frequently caused by blunt trauma, such as that from vehicle accidents or falls, which leads to a sudden increase in the pleuroperitoneal pressure gradient, resulting in the rupture of the diaphragm and subsequent herniation of abdominal organs into the thoracic cavity1. The incidence of diaphragmatic rupture from thoracoabdominal trauma ranges from 0.8% to 3.6%, highlighting that while the occurrence is relatively low, the consequences can be severe1. Areas of potential weakness along embryological fusion points are particularly susceptible to rupture during traumatic events, which explains the common localization of hernias in these regions1. Moreover, the anatomical structure of the diaphragm contributes to the higher occurrence of left-sided hernias compared to right-sided ones, with the latter being rare but associated with higher morbidity and mortality rates1. Beyond trauma, iatrogenic causes account for the second most common etiology of ADH, often arising from surgeries such as pediatric liver transplants or liver resections1. Factors such as the type of surgery, patient-related factors, and the surgical technique used to close the diaphragm further influence the likelihood of developing an iatrogenic diaphragmatic hernia1. Understanding the interconnected domains of trauma, surgical interventions, and anatomical predispositions is critical for developing preventative strategies and timely interventions to mitigate the risks and complications associated with acquired diaphragmatic hernia.
What role do genetic and environmental factors play in the etiology?
In contrast to acquired diaphragmatic hernia, which is often the result of trauma or surgical interventions, congenital diaphragmatic hernia (CDH) presents a more complex etiology involving a combination of genetic and environmental factors. CDH is a significant structural birth defect, and its development can be attributed to the intricate interplay between these factors5. For instance, maternal vitamin A deficiency has been strongly linked to the occurrence of CDH, highlighting the critical role of environmental influences5. This deficiency, particularly in the presence of genetic mutations such as those found in the Gata4 gene, underscores the necessity of both genetic predispositions and environmental conditions in the pathogenesis of CDH5. The loss of one copy of Gata4, coupled with low maternal vitamin A levels, has been shown to exacerbate diaphragm defects, leading to the formation of larger and more severe hernias5. Therefore, understanding the etiology of CDH necessitates a comprehensive evaluation of both genetic mutations and environmental exposures, emphasizing the need for targeted interventions that address these multifactorial risks to mitigate the incidence and severity of this congenital condition.
CLINICAL PRESENTATION OF DIAPHRAGMATIC HERNIA:
What are the common symptoms associated with diaphragmatic hernia?
Diaphragmatic hernia, particularly in the context of trauma, often presents with a range of symptoms that can complicate diagnosis and treatment. One significant challenge is that the clinical findings of a diaphragmatic hernia are frequently obscured by other major trauma, making early detection difficult6. Among the most common presenting symptoms are chest discomfort and abdominal pain, which affect approximately 81% of patients with traumatic diaphragmatic hernia7. Breathlessness is another prevalent symptom, reported in 61.9% of affected individuals7. Vomiting, although less common, still occurs in nearly half of the cases, at 47.6%7. Notably, many patients do not exhibit major symptoms directly attributable to the diaphragmatic tear itself, which further complicates timely and accurate diagnosis6. The interconnection between these symptoms and the obscuring effect of concurrent trauma necessitates a high index of suspicion and comprehensive clinical evaluation to ensure early intervention and prevent complications such as strangulation of the herniated viscera, which is typically a late and severe manifestation6. Therefore, heightened awareness and prompt diagnostic efforts are crucial in managing diaphragmatic hernia effectively.
How does the severity of symptoms vary with the type of hernia?
The severity of symptoms associated with congenital diaphragmatic hernia (CDH) can vary significantly based on several factors, including the size of the hernia and the degree of organ displacement into the thoracic cavity. In more serious cases of CDH, the herniation can severely impede the lung development and function, leading to compromised pulmonary performance and reduced oxygenation capacity in the body8. Conversely, mild cases may present with few or no symptoms, often going undetected until later stages of life8. The presence of a larger hernia typically results in more profound pulmonary complications due to the increased displacement of abdominal organs into the chest cavity, leading to conditions like pulmonary hypoplasia and increased pulmonary vascular resistance9. Additionally, the severity of symptoms is not solely confined to pulmonary issues; it can extend to gastrointestinal complications, such as gastric obstruction and strangulation, which add layers of complexity to the clinical presentation10. Thus, a comprehensive understanding of the interrelated respiratory and digestive symptoms is crucial for effective management and intervention strategies, underscoring the need for early detection and specialized care in severe cases of CDH.
Which diagnostic tools are most effective in identifying diaphragmatic hernia?
Computed tomography (CT) is widely recognized as the gold standard for diagnosing diaphragmatic hernias, owing to its high sensitivity and specificity rates1. This modality’s comprehensive imaging capabilities make it exceptionally effective in identifying the presence, location, and size of diaphragmatic defects, surpassing the diagnostic accuracy of chest X-rays, which may appear normal in cases of intermittent herniation10. CT scans can reveal a range of indicative radiological findings, such as diaphragmatic discontinuity, segmental non-recognition of the diaphragm, and the «Dangling diaphragm» sign, which significantly aid in the diagnosis10. Additionally, CT imaging can detect complications such as thoracic fluid, abutting intra-abdominal viscera, and associated fractured ribs, providing a thorough assessment of the extent and impact of the hernia10. In cases where imaging results are inconclusive, open surgical exploration or endoscopy might be considered, although endoscopy should be avoided in acute trauma patients due to potential risks1,10. For pediatric cases involving congenital diaphragmatic hernia, routine antenatal ultrasound screening between 18 to 22 weeks gestation proves to be an effective diagnostic tool, with a significant detection rate in neonates1. These diagnostic approaches, collectively, underscore the importance of utilizing a combination of imaging modalities tailored to the patient’s specific condition to ensure accurate diagnosis and appropriate intervention.
MANAGEMENT STRATEGIES FOR DIAPHRAGMATIC HERNIA:
What are the surgical options available for treating diaphragmatic hernia?
The surgical options for treating diaphragmatic hernias are diverse and are chosen based on various factors, including the condition’s chronicity, the surgeon’s expertise, and available resources. One primary approach involves the use of thoracic and abdominal techniques, where the choice is often dictated by the specifics of the case. For instance, unstable patients or those presenting with complications such as strangulation or perforation are typically managed through an open abdominal approach, which allows for primary closure of the hernia defect and can be life-saving in acute scenarios10. Additionally, in delayed diagnoses, the thoracic approach is preferred to reduce the risk of viscera-pleural adhesions and intrathoracic visceral perforation, making this method particularly useful for chronic cases1. The laparoscopic approach, which is less invasive, may also be employed, especially for stable patients with complicated hernias, demonstrating the importance of the surgeon’s familiarity with this technique10. In certain complex situations, a combined thoraco-abdominal approach might be necessary, particularly when it is difficult to identify all injuries or exclude bilateral cavity complications1. This multifaceted strategy ensures that treatment can be tailored to the patient’s specific needs, maximizing the chances of a successful outcome.
How do non-surgical management techniques compare with surgical interventions?
In evaluating the management of acute penetrating thoraco-abdominal trauma, both non-surgical and surgical interventions present distinct advantages and challenges. Traditionally, immediate surgical exploration has been the cornerstone of managing such injuries, primarily due to its effectiveness in promptly diagnosing and addressing diaphragmatic involvement11. This approach has significantly increased the recognition and treatment of diaphragmatic injuries, which may otherwise remain undetected and lead to severe complications11. Conversely, adopting a more aggressive non-operative management strategy, while potentially reducing the invasiveness of treatment and associated complications, raises the risk of missed diaphragmatic injuries, which are notoriously difficult to diagnose without direct visualization11. Consequently, the balance between minimizing surgical intervention and ensuring comprehensive injury assessment underscores the complexity of choosing the appropriate management strategy. This necessitates a careful evaluation of patient-specific factors and injury severity to optimize outcomes. Therefore, the decision-making process in managing thoraco-abdominal trauma should be informed by a thorough understanding of the potential risks and benefits associated with both non-surgical and surgical approaches.
What are the post-operative care considerations for patients with diaphragmatic hernia?
Post-operative care for patients with diaphragmatic hernia, particularly infants, involves meticulous attention to various medical and supportive needs to ensure optimal recovery. Infants who have undergone congenital diaphragmatic hernia (CDH) repair, especially those requiring a patch or supplemental oxygen at 44 weeks corrected age, are at heightened risk for multiple medical issues, including respiratory and gastrointestinal complications12. Prolonged sedation, muscle relaxation, or paralysis used during surgery may delay extubation, posing risks such as atelectasis, lung collapse, ventilator-associated pneumonia, and poor muscle tone12. To mitigate these risks, it is crucial to monitor respiratory function closely and aim for early extubation to nasal continuous positive airway pressure (nCPAP), which is generally well tolerated by infants post-surgery12. Gastrointestinal management is equally important, as intestinal ileus and reflux are common post-operatively; hence, continuous feeding may be necessary during the initial days to ensure adequate nutrition and prevent complications12. Initiating enteral feeds within 24 hours after surgery, following consultation with the surgical team, can also promote gastrointestinal function and overall recovery12. It is imperative that any major post-operative interventions be discussed with the thoracic surgeon, except in emergency situations, to ensure coordinated and comprehensive care12. Thus, a holistic approach that addresses both respiratory and gastrointestinal concerns, along with close surgical consultation, is essential for the effective post-operative management of diaphragmatic hernia.
DISCUSSION
The findings from this research underscore the multifaceted nature of diaphragmatic hernia, particularly congenital diaphragmatic hernia (CDH), which is intricately linked to a confluence of genetic, environmental, and nutritional factors. The identification of specific genetic syndromes and chromosomal abnormalities associated with CDH highlights the importance of genetic counseling and prenatal screening as critical components in the management of this condition. Moreover, the association of teratogenic agents with an increased risk of CDH emphasizes the necessity for heightened awareness among healthcare providers regarding maternal exposures during pregnancy. The study also delineates the stark contrast between congenital and acquired diaphragmatic hernias, with the latter being predominantly a result of trauma or surgical interventions, which requires nuanced approaches in both diagnosis and treatment. The relatively low incidence of diaphragmatic rupture due to thoracoabdominal trauma does not diminish the severity of potential complications, pointing to the need for vigilant monitoring and a high index of suspicion in trauma cases. Our research reinforces the notion that early detection remains a significant challenge, often complicated by the presence of other major injuries that obscure clinical findings. The anatomical predisposition for left-sided hernias, coupled with the higher morbidity associated with right-sided hernias, prompts a call for tailored surgical strategies and post-operative care plans that address these disparities. Furthermore, the critical role of timely enteral feeding post-surgery to facilitate gastrointestinal recovery cannot be overstated, as it directly influences patient outcomes. Acknowledging the limitations of this study, including the potential variability in clinical presentation and the retrospective nature of some data, is vital for future research efforts. Subsequent investigations should aim to explore the long-term outcomes of various management strategies, as well as the impacts of nutritional interventions during pregnancy on the incidence of CDH. Overall, the complexities associated with diaphragmatic hernia management necessitate a holistic and multidisciplinary approach to improve patient care and outcomes, emphasizing the importance of collaboration among surgical, medical, and nutritional teams.
CONCLUSIONS
- Diaphragmatic hernia is a complex condition with significant implications for both pediatric and adult populations, particularly in cases of congenital diaphragmatic hernia (CDH). The etiology of diaphragmatic hernia is multifactorial, involving genetic, environmental, and mechanical factors, with congenital cases often associated with poor prenatal lung development, leading to respiratory distress at birth. Acquired diaphragmatic hernias, although less common, are often caused by trauma or surgical complications, and they present unique diagnostic and therapeutic challenges. Understanding the underlying causes of both congenital and acquired forms of diaphragmatic hernia is essential for improving diagnosis, treatment, and patient outcomes.
- Clinically, diaphragmatic hernias present with varying degrees of severity, depending on the size of the defect and the extent of organ displacement into the thoracic cavity. In neonates with CDH, respiratory failure due to pulmonary hypoplasia and pulmonary hypertension remains the most serious complication, often requiring immediate intensive care after birth. Early and accurate prenatal diagnosis, typically through ultrasound, has significantly improved the prognosis by enabling prenatal counseling and planning for specialized neonatal care. In adults, acquired diaphragmatic hernias may be asymptomatic or cause gastrointestinal or respiratory symptoms, often requiring imaging for confirmation.
- Management strategies for diaphragmatic hernia have evolved over time, with surgical repair remaining the cornerstone of treatment. Advances in minimally invasive surgery, such as thoracoscopic or laparoscopic repair, have improved outcomes by reducing recovery time and postoperative complications. In cases of CDH, multidisciplinary approaches that include neonatal intensive care, the use of extracorporeal membrane oxygenation (ECMO) for severe pulmonary hypertension, and long-term follow-up have significantly improved survival rates, although challenges in managing long-term sequelae, such as respiratory and gastrointestinal issues, remain.
FUTURE DIRECTIONS
Despite advancements in prenatal diagnosis and surgical techniques, diaphragmatic hernia continues to present significant challenges in clinical management, particularly in cases of severe CDH. There is still a need for further research into the genetic and environmental factors contributing to the development of diaphragmatic hernia, as well as more effective strategies for prenatal intervention. Additionally, improving long-term care and quality of life for patients, particularly those with CDH, remains a priority for future studies.
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