Diaphragm Disorders (Diaphragmatic Dysfunction) Clinical Presentation

Updated: Nov 18, 2021
  • Author: Garrett L Rampon, MD; Chief Editor: Zab Mosenifar, MD, FACP, FCCP  more...
  • Print


Background information is of prime importance when considering dysfunction of the diaphragm. An adequate history is essential to help identify potential causes. Even so, an etiology for diaphragmatic dysfunction is not ascertained in 50%-60% of patients. Note the conditions discussed below.

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.

The development of a ventral hernia is a relatively common complication of abdominal surgery. If large enough, a ventral abdominal hernia may lead to diaphragm dysfunction accompanied by complaints of dyspnea and platypnea. Because diaphragm dysfunction is more commonly associated with orthopnea and not platypnea, these symptoms can be misattributed to deconditioning or atelectasis. [38]

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. [5] 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.

Bilateral dysfunction is more severe and manifests with shortness of breath, severe exertional dyspnea, poor sleep quality, and marked orthopnea. [39] 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.”


Physical Examination

Physical findings upon examination in patients with diaphragm disorders vary depending on the etiology.

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

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

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)