CONGENITAL AND

ACQUIRED DISORDERS
OF DIAPHRAGM
DR KANTAM D CHAKRABORTY
BACKGROUND
• The diaphragm is the dome-shaped muscle that separates the
thoracic and abdominal cavities; it is the major muscle of respiration.
• Dysfunction of the diaphragm may be an asymptomatic incidental
finding, or it may be associated with dyspnea, decreased exercise
tolerance, sleep disturbances, respiratory failure, and death.
• Diaphragmatic dysfunction may result from disease processes in the
central nervous system, the phrenic nerves, the neuromuscular
junction, or anatomically.
BACKGROUND
• Dysfunction may range in severity from a partial loss of muscle
contraction to complete paralysis, and it may involve one or both
hemidiaphragms.
• The workup for suspected diaphragm dysfunction includes chest
radiography, pulmonary function testing, fluoroscopy, phrenic nerve
conduction studies (NCS), needle electromyogram (EMG) of the
diaphragm, and transdiaphragmatic pressure measurements.
ETIOLOGY
• Anatomic defects
• Congenital defects: Bochdalek hernia, Morgagni hernia, eventration of the
diaphragm, and diaphragmatic agenesis
• Acquired defects: Blunt traumatic rupture, penetrating injuries, and iatrogenic
injury during surgery or other invasive procedures
• Neurologic defects
• Brainstem stroke
• Spinal cord disorders: Trauma to the cervical spinal cord, syringomyelia,
poliomyelitis, anterior horn cell disease
• Cervical spondylosis
ETIOLOGY
• Cervical chiropractic manipulation
• Trauma to the phrenic nerve from surgery, radiation, or a tumor
• Guillain-Barré syndrome
• Diabetic neuropathy
• Alcoholic neuropathy
• Viral and postviral neuropathy (polio, West Nile virus, herpes zoster, human
immunodeficiency virus )
• Heavy metal toxicity (lead, arsenic)
• Multiple sclerosis
• Amyotrophic lateral sclerosis
• Connective-tissue disease (eg, systemic lupus erythematosus [SLE], rheumatoid
arthritis)
ETIOLOGY
• Myopathic causes
• Disuse atrophy due to mechanical ventilation
• Malnutrition
• Electrolyte disturbances (hypophosphatemia, hypokalemia, hypocalcemia)
• Limb-girdle dystrophy
• Hyperthyroidism or hypothyroidism
• Acid maltase deficiency
• SLE
• Dermatomyositis
• Mixed connective-tissue disease
• Amyloidosis
• Myasthenia gravis
• Muscular disorders: Myotonic dystrophies, Duchenne muscular dystrophy, and metabolic
myopathies
DISORDERS OF
NEUROMUSCULATURE
• During normal respiration, the brainstem sends action potentials to
the third through fifth cervical spine levels, which then give off dorsal
rami that join to form the phrenic nerves bilaterally. The phrenic
nerves then traverse the neck and thorax and innervate the
diaphragm.
• Traumatic injury to the head or brainstem prevents nerve signals from
reaching the phrenic nerve.
• Other etiologies of central nervous system damage that may affect
the brainstem include multiple sclerosis, stroke, Arnold-Chiari
malformations, and poliomyelitis.
PHRENIC NERVE DIRECT
INVOLVEMENT
• Numerous clinical entities can affect the phrenic nerve directly,
including trauma, external compression from a tumor, cardiac or
thoracic surgery, chiropractic cervical spine manipulation, radiation
therapy, demyelinating diseases (eg, Guillain-Barré syndrome, chronic
inflammatory demyelinating polyneuropathy, Charcot-Marie-Tooth),
uremia, lead neuropathy, and postinfectious neuropathies.
NMJ DISEASES
• Diseases of the neuromuscular junction can inhibit the production,
release, or binding of neurotransmitters at phrenic-diaphragmatic
synapses. These processes include myasthenia gravis, Lambert-Eaton
syndrome, botulism, organophosphate poisoning.
MYOPATHIES
• Diseases that affect the muscle fibers of the diaphragm may result in
decreased muscle strength resulting in a decreased ability to generate
transdiaphragmatic pressure gradients and thereby less negative
maximal inspiratory pressures. These processes include muscular
dystrophies, glucocorticoid myopathy, statin myopathy, malnutrition,
thyroid disorders, and disuse atrophy in mechanically ventilated
patients.
ANATOMICAL - CONGENITAL
• Congenital diaphragmatic
hernias occur when the
muscular entities of the
diaphragm do not develop
normally, usually resulting in
displacement of the abdominal
components into the thorax.
• Association with maternal
vitamin A deficiency.
CDH
• Congenital diaphragmatic hernias are
classified by the position of the defect.
Bochdalek hernias, which represent
between 80% and 90% of congenital
diaphragmatic hernias, are posterolateral
defects of the diaphragm that result in
either failure in the development of the
pleuroperitoneal folds or improper or
absent migration of the diaphragmatic
musculature. Morgagni hernias involve
the anterior portion of the diaphragm.
Congenital diaphragmatic hernias
involving the central portion of the
diaphragm are rare.
ANATOMICAL - ACQUIRED
• The most common cause of acquired diaphragmatic disorders is
trauma. Traumatic diaphragmatic rupture can occur secondary to
both blunt and penetrating trauma. Up to 65% of diaphragmatic
ruptures are a result of penetrating injury from stab or gunshot
wounds. The remainder of traumatic diaphragmatic injury is blunt
trauma sustained from motor vehicle accidents, falls, or direct
impacts. Left-sided rupture is more common, occurring in 65%-75% of
blunt trauma cases.
INCIDENCE
• Congenital diaphragmatic hernia (CDH) affects 1 in 3500 live-born
infants.
• Coronary artery bypass grafting (CABG) surgery is associated with
lesions of the phrenic nerves resulting in postoperative diaphragmatic
paralysis, with reported incidences varying from 1% to 5%.
• Internal mammary artery harvesting during cardiac surgery increase
the risk of phrenic nerve injury.
PROGNOSIS
• Patients with congenital diaphragmatic hernias generally present in the
neonatal period, with associated postsurgical survival rates of 60%-80%.
• Despite improvements in surgical correction over the years, complications
and comorbidities still affect 20%-40% of the treated children.
• These include both surgical complications (recurrence, postoperative
adhesions and obstruction, stenosis, strictures, and recurrent fistulae) as
well as pulmonary problems (chronic lung disease, obstructive and
restrictive pulmonary dysfunction), gastrointestinal problems (dysphagia,
gastroesophageal reflux, impaired intestinal motility), and failure to thrive.
PROGNOSIS
• Patients with diaphragmatic disorders due to transient neuropathies such
as postviral neuropathy or Guillain-Barré syndrome as well as patients
with iatrogenic phrenic nerve injury from cardiac or thyroid surgery
generally have a favorable prognosis, with functional recovery in up to
69% of patients within 2 years.
• In the intensive care unit, ventilator-induced diaphragm dysfunction is a
negative prognostic marker, with clinical impact on the weaning outcome,
length of mechanical ventilation, survival, and long-term outcome. The
mechanisms underlying this process include weakness of the diaphragm
from defective contractility and reduced diaphragm muscle mass, as well
as oxidative loads, structural damage, and muscle fiber remodeling.
PROGNOSIS
• Persons with high cervical spine fractures generally fare worse than
individuals with transient neuropathies.
• Trauma to the cervical spine at C1-C2 results in complete
diaphragmatic paralysis.
• Trauma to C3 and C4 may lead to substantial loss of diaphragm
function.
• Trauma to C4 and C5 are much less likely to require ventilatory
support.
PRESENTATION
• Congenital hernias
• Respiratory distress and/or cyanosis may occur within the first 24 hours of life.
If the defect is small enough, patients often remain asymptomatic for years or
even decades.
• Traumatic rupture
• The acute phase of a traumatic diaphragmatic rupture manifests with
abdominal pain, concurrent intra-abdominal and intrathoracic injuries,
respiratory distress, and cardiac dysfunction.
• Latent-phase symptoms include gastrointestinal complaints, pain in the left
upper quadrant or chest, pain in the left shoulder, dyspnea, and orthopnea.
• The gastrointestinal obstructive phase manifests with nausea and vomiting
with unrelenting abdominal pain, prostration, and respiratory distress.
PRESENTATION
• Neurologic causes
• Most patients with unilateral diaphragm dysfunction are asymptomatic, and
they are generally found with incidental unilateral elevation of a
hemidiaphragm on chest imaging.
• When symptoms are present, they include mild exertional dyspnea,
generalized muscle fatigue, chest wall pain, and resting dyspnea while lying
with the paralyzed side down or when the abdomen is submerged under
water.
• Symptoms are generally more severe in patients with concomitant lung
disease.
UNILATERAL
PARALYSIS
PRESENTATION
•Bilateral dysfunction is more severe and manifests with shortness of
breath, severe exertional dyspnea, poor sleep quality, and marked
orthopnea.
•The orthopnea of bilateral diaphragmatic dysfunction is dramatic and
occurs within minutes after assuming the recumbent position; it is
caused by cephalad movement of the abdominal viscera against the
weakened diaphragm.
•Orthopnea is associated with tachypnea and rapid, shallow breathing.
•Chest radiographs in patient with bilateral diaphragmatic disorder may
be interpreted as “small lung volumes” or “poor inspiratory effort.”
BILATERAL
PARALYSIS
PHYSICAL EXAMINATION
• Congenital hernia findings include the following:

• Right-sided heart
• Decreased breath sounds on the affected side
• Scaphoid abdomen
• Auscultation of bowel sounds in the thorax
PHYSICAL EXAMINATION
• Traumatic diaphragmatic rupture findings include the following:

• Marked respiratory distress

• Decreased breath sounds on the affected side
• Palpation of abdominal contents in the chest when inserting a chest tube
• Auscultation of bowel sounds in the chest
• Paradoxical movement of the abdomen with breathing
PHYSICAL EXAMINATION
• Neurologic findings include the following:
• Decreased breath sounds
• Generalized or focal neurologic deficits
• Dullness on the lower chest upon percussion on the involved side
• Decreased excursion of the involved hemithorax compared to the healthy side
• Paralysis
• Paradoxical abdominal wall retraction during inspiration (this is best
appreciated in the supine position)
• Hypoxemia, secondary to atelectasis-induced ventilation-perfusion mismatch,
exacerbated in the supine position
• Signs of cor pulmonale (occasionally present)
DIFFERENTIAL DIAGNOSIS
• Alveolar hypoventilation caused by brainstem or higher cervical spinal injury
• Anterior horn cell or neuromuscular junction disease to differentiate from phrenic nerve
dysfunction
• Cerebral hemorrhage or ischemia
• Cervical fracture
• Cervical spine fractures
• Decreased pulmonary or abdominal compliance
• Guillain-Barre Syndrome
• Injury to phrenic nerve from trauma, neoplasm, or surgery
• Myasthenia Gravis
• Peripheral neuropathies
• Pleural adhesions
WORKUP
• Diagnostic evaluation may include chest radiography, supine and
upright pulmonary function testing, video fluoroscopy, phrenic nerve
conduction studies (NCS), needle electromyography (EMG) of the
diaphragm, and transdiaphragmatic pressure measurements.
• Laboratory studies are limited to evaluation of underlying neuropathic
causes of diaphragmatic dysfunction and include viral titers and heavy
metal levels. Arterial blood gas determinations may show hypoxemia
with underlying ventilation-perfusion (V/Q) mismatch and progressive
hypercapnia as respiratory failure develops.
IMAGING STUDIES - CXR
• Unilateral diaphragm paralysis appears as an abnormally elevated
hemidiaphragm on a chest radiograph, which can be defined as a right
hemidiaphragm sitting more than 2 cm higher than its left counterpart or
a left hemidiaphragm sitting at or higher than the right hemidiaphragm.
• Congenital defect or traumatic rupture is demonstrated
roentgenographically with abdominal contents in the thorax on the
affected side.
• Chest radiographs may exhibit a cervical or thoracic mass that
encompasses the phrenic nerve.
• Small lung volume and atelectasis are also common features.
FLUOROSCOPY
• Fluoroscopy is generally performed with two to three resting tidal
respirations, two to three deep respirations, and two to three hard, deep, and
fast inhalations through the nose (sniff maneuvers) in both the anteroposterio
and lateral views.
• Fluoroscopy is considered positive if a 2-cm or greater excursion is present
and the whole leaf of the hemidiaphragm is involved during the sniff
maneuver.
• Although fluoroscopy is positive in 90% of cases of unilateral diaphragmatic
paralysis, it should not be used to diagnose bilateral diaphragm weakness. In
bilateral paralysis, the sniff test result may be misleading because the
cephalad movement of the ribs and accessory muscle contraction gives the
false appearance of caudal displacement of the diaphragm.
OTHER IMAGING MODALITIES
• USG
• The main variables that can be assessed using this technique include the
static measurement of diaphragm thickness and the more dynamic evaluation
of inspiratory diaphragm thickening fraction and excursion.

• CT, MRI
• Computed tomography (CT) scanning is usually not very helpful in bilateral
paralysis.
• Dynamic magnetic resonance imaging (MRI), however, has evolved with new
techniques for quantitative evaluation of excursion, synchronicity, and
velocity of diaphragm motion.
PULMONARY FUNCTION TESTS
• Pulmonary function tests, including maximum inspiratory pressures,
transdiaphragmatic pressure measurement, and vital capacity (VC), in
both the upright and supine positions to check whether diaphragmatic
dysfunction is present and/or the degree of respiratory compromise
experienced by the patient in different positions.
• In healthy individuals, a 10% decrease in VC in the supine position when
compared to the upright postion is typically present.
• In patients with unilateral diaphragmatic paralysis, VC is typically
decreased by 15%-20% in the supine position.
• In patients with bilateral diaphragmatic paralysis, VC decreases 30%-50%
in the supine position.
MAXIMAL INSPIRATORY PRESSURE
• Easy, noninvasive test with well-established normal ranges.
• Limitations - effort dependent, less reproducible than lung volumes,
and of minimal benefit in the assessment of unilateral diaphragmatic
weakness.
• Normal values of MIP are generally considered above 80 cm H2O in
men, and more than 70 cm H2O in women.
• Bilateral diaphragmatic paralysis decreases MIP by approximately
60%, and unilateral diaphragmatic weakness decreases MIP by
approximately 30%.
TRANSDIAPHRAGMATIC PRESSURE
• Measurement of transdiaphragmatic pressure (Pdi) is the considered
gold standard for the diagnosis of diaphragmatic dysfunction and
paralysis.
• It is measured by placing balloon catheters in the lower esophagus
and stomach, and then calculating the difference in pressures.
• Measurements can be made during tidal breathing, during maximum
inspiratory effort (Pdi-max), and during the sniff maneuver (Pdi-sniff).
• Pdi may also be augmented by transcutaneous electrical or magnetic
stimulation of the phrenic nerves (twitch Pdi) to eliminate variability
due to patient effort.
PDI
• Pdi-sniff has been shown to have a narrower normal range and less
susceptibility to variations.
• Normal values of Pdi-sniff are approximately more than 90 cm H2O in
men and over 80 cm H2O in women, with a standard deviation of 20
cm H2O
• Pdi-sniff above 40 cm H2O or twitch Pdi above 15 cm H2O virtually
excludes clinically significant diaphragmatic weakness.
• Limitations of Pdi measurements include invasiveness, patient
discomfort, and requirement of specialized equipment and expertise
in their use and interpretation.
OTHER INVESTIGATIONS
• Nerve Conduction Study
• Phrenic nerve conduction studies are used to assess the latency of conducting
nervous impulses along the course of the nerve. This helps localize lesions to
one side or the other as well as helps the clinician to decipher whether the
condition is a bilateral phenomenon.
• Electromyography
• An electromyogram (EMG) is useful to show neuropathic or myopathic
patterns, and the test can be complemented by phrenic nerve stimulation at
the neck.
• Diaphragm EMG can detect evidence of denervation and differentiate
between neuropathic and myopathic causes of paralysis.
MEDICAL MANAGEMENT
• Many patients with severe bilateral diaphragmatic dysfunction require ventilatory
support.
• This may range from nocturnal to continuous, and from noninvasive to invasive.
• General indications for initiating nocturnal noninvasive ventilator support include
a daytime partial pressure of carbon dioxide above 45 mm Hg, nocturnal oxygen
saturations of 88% or lower for five consecutive minutes, a maximal inspiratory
pressure (MIP) below 60 cm H2O or a forced vital capacity of less than 50%
predicted.
• In the case of patients with concomitant chronic respiratory or cardiac disease,
transient ventilatory support may be required in situations of cardiac or
respiratory instability, such as with respiratory infections, pulmonary edema, or
bronchospasm.
MEDICAL MANAGEMENT
• If the patient does not respond to nasal or oral positive-pressure ventilation, alternative
forms of therapy such as negative-pressure cuirass ventilation or jacket ventilator/airtight
body suit (eg, Pulmo-Wrap), rocking bed, or positive-pressure pulmo-belt can be used.
• Diaphragmatic pacing may be of benefit to patients with bilateral diaphragmatic
weakness who have intact phrenic nerves, such as patients with high-level cervical spinal
injuries or patients with central hypoventilation.
• This therapy is limited, and often diaphragmatic pacing does not result in sustained,
independent ventilation. Progressive reconditioning is recommended when using a
diaphragmatic pacer.
• High stimulating frequencies and a prolonged period of pacing may lead to irreversible
muscle dysfunction. Patients with diaphragmatic pacing require tracheotomies, because
pacer-induced breathing is not synchronized with the upper airway.
DIAPHRAGM
ATIC PACING
SURGICAL MANAGEMENT
• Manage congenital diaphragmatic defects through transabdominal
primary surgical repair.
• Acquired diaphragmatic defects (ie, traumatic rupture, late-onset
congenital diaphragmatic defect) are typically managed by
thoracoscopic plication of the hemidiaphragm.
• Plication usually results in improved lung function and exercise endurance,
and less dyspnea.
• Plication of the diseased diaphragm improves ventilation to the well-perfused
lung and improves gas exchange, which improves static lung mechanics.
PLICATION VIA
THORACOSCOPY
SURGICAL MANAGEMENT
• Primary repair of phrenic nerve damage from trauma can be
attempted but does not generally restore function. With expectant
treatment, few patients regain phrenic nerve function.

• Manage injury from a tumor by resection of the tumor encasing the

phrenic nerve. Most patients regain function of the nerve.

• Cold phrenic nerve injury during cardiac surgery generally resolves

with conservative management.
THANK YOU