Congenital Diaphragmatic Hernias

Congenital diaphragmatic hernias are embryologically derived defects in the diaphragm Diaphragm The diaphragm is a large, dome-shaped muscle that separates the thoracic cavity from the abdominal cavity. The diaphragm consists of muscle fibers and a large central tendon, which is divided into right and left parts. As the primary muscle of inspiration, the diaphragm contributes 75% of the total inspiratory muscle force. Diaphragm through which abdominal structures can pass into the chest cavity. The presence of intestines and intra-abdominal organs in the chest interferes with embryonic development of the lungs Lungs Lungs are the main organs of the respiratory system. Lungs are paired viscera located in the thoracic cavity and are composed of spongy tissue. The primary function of the lungs is to oxygenate blood and eliminate CO2. Lungs, which is the major cause of pathology postnatally. Prenatal diagnosis is commonly made by ultrasound during pregnancy Pregnancy Pregnancy is the time period between fertilization of an oocyte and delivery of a fetus approximately 9 months later. The 1st sign of pregnancy is typically a missed menstrual period, after which, pregnancy should be confirmed clinically based on a positive β-hCG test (typically a qualitative urine test) and pelvic ultrasound. Pregnancy: Diagnosis, Maternal Physiology, and Routine Care followed by confirmation on chest X-ray after birth. Immediate respiratory resuscitation at birth with endotracheal intubation and mechanical ventilation are required. Surgical repair is the only curative option. Prognosis varies, but children with diaphragmatic hernias usually suffer from lifelong pulmonary complications.

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Overview

Definition

  • Abnormal connection between the abdominal and chest cavities through a diaphragmatic defect 
  • Arises due to the pleuroperitoneal folds failing to fuse during embryonic development

Epidemiology

  • Incidence: 1 in 10,000 live births
  • No association with gender or ethnicity
  • Most commonly sporadic with rare familial incidence
  • Associated anomalies occur in about 30% of congenital diaphragmatic hernia (CDH) cases and include: 
    • Lesions of the central nervous system Nervous system The nervous system is a small and complex system that consists of an intricate network of neural cells (or neurons) and even more glial cells (for support and insulation). It is divided according to its anatomical components as well as its functional characteristics. The brain and spinal cord are referred to as the central nervous system, and the branches of nerves from these structures are referred to as the peripheral nervous system. General Structure of the Nervous System (CNS) and cardiovascular systems 
    • Omphalocele Omphalocele Omphalocele is a congenital anterior abdominal wall defect in which the intestines are covered by peritoneum and amniotic membranes. The condition results from the failure of the midgut to return to the abdominal cavity by 10 weeks' gestation. Omphalocele
    • Esophageal atresia Esophageal atresia Esophageal atresia is a congenital anomaly in which the upper esophagus is separated from the lower esophagus and ends in a blind pouch. The condition may be isolated or associated with tracheoesophageal fistula, which is an abnormal connection between the trachea and esophagus. Esophageal Atresia and Tracheoesophageal Fistula
  • Associated chromosomal syndromes include: 
    • Trisomies 13, 18, and 21 
    • Turner syndrome Turner syndrome Turner syndrome is a genetic condition affecting women, in which 1 X chromosome is partly or completely missing. The classic result is the karyotype 45,XO with a female phenotype. Turner syndrome is associated with decreased sex hormone levels and is the most common cause of primary amenorrhea. Turner Syndrome
  • The majority of CDH are Bochdalek hernias (up to 90%). 
  • Morgagni hernias account for only 2%6% of cases.

Embryology

Multiple embryological mechanisms have been proposed:

  • Failure of diaphragmatic structure fusion
    • The diaphragm Diaphragm The diaphragm is a large, dome-shaped muscle that separates the thoracic cavity from the abdominal cavity. The diaphragm consists of muscle fibers and a large central tendon, which is divided into right and left parts. As the primary muscle of inspiration, the diaphragm contributes 75% of the total inspiratory muscle force. Diaphragm is composed of 4 embryological structures:
      • 2 pleuroperitoneal membranes
      • Septum transversum
      • Muscular ingrowth from the body wall
    • Failure of these structures to fuse during the 4th to 10th weeks of gestation leaves residual openings that can become hernias.
  • Premature involution and malrotation of the midgut
    • 6th week of gestation: The midgut grows rapidly, extending outside the embryo.
    • 9th week of gestation: Midgut twists and re-enters the embryo’s abdomen.
    • Premature re-entry or incorrect rotation of the bowel → higher pressure in the abdominal cavity than the chest cavity → failure of the correct formation of the diaphragm Diaphragm The diaphragm is a large, dome-shaped muscle that separates the thoracic cavity from the abdominal cavity. The diaphragm consists of muscle fibers and a large central tendon, which is divided into right and left parts. As the primary muscle of inspiration, the diaphragm contributes 75% of the total inspiratory muscle force. Diaphragm 
  • Pulmonary hypoplasia Pulmonary hypoplasia Pulmonary hypoplasia is the lack of normal fetal development of the pulmonary parenchyma. The condition is characterized by a decreased number of alveoli and bronchial generations. Oligohydramnios is a notable cause, but conditions that restrict lung development or lead to fetal lung compression can also result in pulmonary hypoplasia. Pulmonary Hypoplasia
    • Failure of the lungs Lungs Lungs are the main organs of the respiratory system. Lungs are paired viscera located in the thoracic cavity and are composed of spongy tissue. The primary function of the lungs is to oxygenate blood and eliminate CO2. Lungs to develop appropriately → decreased pressure in the chest cavity
    • Causes a pressure differential that pushes on the diaphragm Diaphragm The diaphragm is a large, dome-shaped muscle that separates the thoracic cavity from the abdominal cavity. The diaphragm consists of muscle fibers and a large central tendon, which is divided into right and left parts. As the primary muscle of inspiration, the diaphragm contributes 75% of the total inspiratory muscle force. Diaphragm
    • The diaphragm Diaphragm The diaphragm is a large, dome-shaped muscle that separates the thoracic cavity from the abdominal cavity. The diaphragm consists of muscle fibers and a large central tendon, which is divided into right and left parts. As the primary muscle of inspiration, the diaphragm contributes 75% of the total inspiratory muscle force. Diaphragm does not fuse appropriately.

Classification

  • Bochdalek hernia: 
    • Constitutes 90% of congenital diaphragmatic hernias
    • Defect in the posterolateral portion of the diaphragm Diaphragm The diaphragm is a large, dome-shaped muscle that separates the thoracic cavity from the abdominal cavity. The diaphragm consists of muscle fibers and a large central tendon, which is divided into right and left parts. As the primary muscle of inspiration, the diaphragm contributes 75% of the total inspiratory muscle force. Diaphragm
    • More commonly left-sided with some occurring bilaterally
  • Morgagni hernia: 
    • Retrosternal resulting from failure of sternal and crural portions to meet
    • More commonly right-sided 
    • The majority of Morgagni hernias are asymptomatic and discovered incidentally on imaging.
  • Hiatal hernia: through the esophageal hiatus
  • Paraesophageal hernia: area adjacent to esophageal hiatus

Pathophysiology

Pathological effects of CDH are due to lung hypoplasia:

  • Lack of space and increased pressure inhibit lung maturation.
  • Decreased bronchial and arterial pulmonary branching
    • Reduced surface area for gas exchange Gas exchange Human cells are primarily reliant on aerobic metabolism. The respiratory system is involved in pulmonary ventilation and external respiration, while the circulatory system is responsible for transport and internal respiration. Pulmonary ventilation (breathing) represents movement of air into and out of the lungs. External respiration, or gas exchange, is represented by the O2 and CO2 exchange between the lungs and the blood. Gas Exchange
    • Arterial smooth muscle hyperplasia leading to pulmonary hypertension Pulmonary Hypertension Pulmonary hypertension (PH) or pulmonary arterial hypertension (PAH) is characterized by elevated pulmonary arterial pressure, which can lead to chronic progressive right heart failure. Pulmonary hypertension is grouped into 5 categories based on etiology, which include primary PAH, and PH due to cardiac disease, lung or hypoxic disease, chronic thromboembolic disease, and multifactorial or unclear etiologies. Pulmonary Hypertension

Clinical Presentation and Diagnosis

Prenatal diagnosis

  • Patients may be diagnosed on routine screening prenatal ultrasound at 1624 weeks’ gestation.
  • Prenatal diagnosis allows for:
    • Family counseling
    • Possible fetal interventions
    • Postnatal planning including referral to a specialized center
  • Prenatal ultrasound findings include: 
    • Lung-to-head ratio index (a number below one signifies severe CDH)
    • Gastric bubble or liver Liver The liver is the largest gland in the human body. The liver is found in the superior right quadrant of the abdomen and weighs approximately 1.5 kilograms. Its main functions are detoxification, metabolism, nutrient storage (e.g., iron and vitamins), synthesis of coagulation factors, formation of bile, filtration, and storage of blood. Liver in the thorax
    • Polyhydramnios Polyhydramnios Polyhydramnios is a pathological excess of amniotic fluid. Common causes of polyhydramnios include fetal anomalies, gestational diabetes, multiple gestations, and congenital infections. Patients are often asymptomatic but may present with dyspnea, extremity swelling, or abdominal distention. Polyhydramnios
    • Chest mass with or without mediastinal shift
Echocardiography congenital diaphragmatic hernia

Ultrasonography: Congenital diaphragmatic hernia. The heart (arrow) is pushed to the right within the thorax and the stomach Stomach The stomach is a muscular sac in the upper left portion of the abdomen that plays a critical role in digestion. The stomach develops from the foregut and connects the esophagus with the duodenum. Structurally, the stomach is C-shaped and forms a greater and lesser curvature and is divided grossly into regions: the cardia, fundus, body, and pylorus. Stomach (STM) is seen in the thorax.

Image: “Congenital diaphragmatic hernia” by US National Library of Medicine. License: CC BY 2.0

Early postnatal presentation

  • Respiratory distress is the most common presenting sign.
    • Tachypnea, grunting, cyanosis 
    • Can develop immediately or up to 2 days after birth
  • Characteristic exam findings include:
    • General: craniofacial syndromic findings often noted before signs of CDH
    • Chest: 
      • Increased diameter (barrel chest)  and asymmetry
      • Decreased breath sounds ± bowel sounds ± displaced maximal cardiac impulse
    • Abdomen: scaphoid deformity
  • Imaging:
    • To be performed to confirm CDH immediately postnatally
    • Chest X-ray shows tip of the nasogastric tube in the chest.
    • Chest computed tomography (CT) scan may be used for further delineation of the defect.

Delayed presentation

  • May present after the neonatal period
  • Vomiting with mild respiratory symptoms
  • Sepsis Sepsis Organ dysfunction resulting from a dysregulated systemic host response to infection separates sepsis from uncomplicated infection. The etiology is mainly bacterial and pneumonia is the most common known source. Patients commonly present with fever, tachycardia, tachypnea, hypotension, and/or altered mentation. Sepsis and Septic Shock and shock Shock Shock is a life-threatening condition associated with impaired circulation that results in tissue hypoxia. The different types of shock are based on the underlying cause: distributive (↑ cardiac output (CO), ↓ systemic vascular resistance (SVR)), cardiogenic (↓ CO, ↑ SVR), hypovolemic (↓ CO, ↑ SVR), obstructive (↓ CO), and mixed. Types of Shock may occur due to incarceration of the bowel through the defect.
  • May be a rare cause of sudden death in infants and toddlers
Congenital diaphragmatic hernia in a fetus

Congenital diaphragmatic hernia in a fetus at 35 weeks’ gestation, including intestines and spleen Spleen The spleen is the largest lymphoid organ in the body, located in the LUQ of the abdomen, superior to the left kidney and posterior to the stomach at the level of the 9th-11th ribs just below the diaphragm. The spleen is highly vascular and acts as an important blood filter, cleansing the blood of pathogens and damaged erythrocytes. Spleen on, coronal (A) and sagittal images (B), and postnatal chest X-ray (C)

Image: “Congenital diaphragmatic hernia in the 35th GW fetus” by Department of Radiology, School of Medicine, Acibadem University, Istanbul, Turkey. License: CC BY 3.0

Management

Prenatal management

  • Close monitoring
    • Monthly ultrasounds to assess fetal well-being and amniotic fluid levels
    • Weekly biophysical profiles in the 3rd trimester
  • Amniotic fluid reduction
    • Reduced fetal ability to swallow amniotic fluid may lead to polyhydramnios.
    • Amnioreduction may be indicated.
  • Fetal surgeries
    • Reserved for fetuses with a CDH with poor prognosis
    • High rate of failure
    • 2 options:
      • Patch closure of the diaphragmatic defect in utero
      • Fetal endoscopic tracheal occlusion (FETO)

Perinatal management

  • Choice of timing and location of birth
    • As close to term as possible (> 39 weeks preferred)
    • In a medical center capable of extracorporeal membrane oxygenation (ECMO)
  • Post-natal resuscitation:
    • Aggressive respiratory support with endotracheal intubation
    • Avoidance of prolonged mask ventilation due to increase in intestinal air with further respiratory compromise
    • High-frequency oscillatory ventilation (HFOV), a low-pressure ventilation mode, may be indicated to prevent lung injury.
    • ECMO may be used in children who fail to respond to conventional ventilation and/or HFOV.
  • Surgery:
    • Bochdalek hernia: surgical repair recommended 48 hours after stabilization
    • Asymptomatic Morgagni hernia: laparoscopic repair recommended due to risk of future strangulation
    • Paraesophageal hernia: Prompt repair is recommended.

Prognosis

  • Indicators of poor prognosis include:
    • Associated major anomalies 
    • Presentation in 1st 24 hours of life
    • Severe lung hypoplasia 
    • Herniation to contralateral thorax
    • Need for ECMO
  • Long-term morbidity includes: 
    • Obstructive and/or restrictive pulmonary defects
    • Gastroesophageal reflux disease Gastroesophageal Reflux Disease Gastroesophageal reflux disease (GERD) occurs when the stomach acid frequently flows back into the esophagus. This backwash (acid reflux) can irritate the lining of the esophagus, causing symptoms such as retrosternal burning pain (heartburn). Gastroesophageal Reflux Disease 
    • Delayed growth in the 1st 2 years of life
    • Neurocognitive deficits (especially in those receiving ECMO)

Differential Diagnosis

  • Congenital pulmonary airway malformations (CPAM): rare congenital airway malformations, often cystic in nature. These intrapulmonary structures prevent normal lung tissue expansion predisposing it to infections and malignancy. Like CDH, they can present with tachypnea in a neonate.
  • Eventration of the diaphragm Diaphragm The diaphragm is a large, dome-shaped muscle that separates the thoracic cavity from the abdominal cavity. The diaphragm consists of muscle fibers and a large central tendon, which is divided into right and left parts. As the primary muscle of inspiration, the diaphragm contributes 75% of the total inspiratory muscle force. Diaphragm: failure of the muscle tissue to cover the diaphragm Diaphragm The diaphragm is a large, dome-shaped muscle that separates the thoracic cavity from the abdominal cavity. The diaphragm consists of muscle fibers and a large central tendon, which is divided into right and left parts. As the primary muscle of inspiration, the diaphragm contributes 75% of the total inspiratory muscle force. Diaphragm during fetal development. This leaves only a thin fibrous layer which can then become elevated, protruding into the chest cavity. Eventration of the diaphragm Diaphragm The diaphragm is a large, dome-shaped muscle that separates the thoracic cavity from the abdominal cavity. The diaphragm consists of muscle fibers and a large central tendon, which is divided into right and left parts. As the primary muscle of inspiration, the diaphragm contributes 75% of the total inspiratory muscle force. Diaphragm can present like CDH but without true communication between the abdominal and chest cavity.
  • Oligohydramnios Oligohydramnios Oligohydramnios refers to amniotic fluid volume less than expected for the current gestational age. Oligohydramnios is diagnosed by ultrasound and defined as an amniotic fluid index (AFI) of ‰¤ 5 cm or a single deep pocket (SDP) of < 2 cm in the 2nd or 3rd trimester. Oligohydramnios: insufficient amniotic fluid due to low production (renal dysfunction) or chronic loss during pregnancy Pregnancy Pregnancy is the time period between fertilization of an oocyte and delivery of a fetus approximately 9 months later. The 1st sign of pregnancy is typically a missed menstrual period, after which, pregnancy should be confirmed clinically based on a positive β-hCG test (typically a qualitative urine test) and pelvic ultrasound. Pregnancy: Diagnosis, Maternal Physiology, and Routine Care, leading to hypoplastic lungs Lungs Lungs are the main organs of the respiratory system. Lungs are paired viscera located in the thoracic cavity and are composed of spongy tissue. The primary function of the lungs is to oxygenate blood and eliminate CO2. Lungs. These patients present with tachypnea and cyanosis, as in CDH, but have no detectable masses in their chest cavity.

References

  1. Deprest J et al. (2014). Prenatal management of the fetus with isolated congenital diaphragmatic hernia in the era of the TOTAL trial. Semin Fetal Neonatal Med.
  2. McGivern MR et al. (2015). Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study. Arch Dis Child Fetal Neonatal Ed. doi: 10.1136/archdischild-2014-30617

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