Platypnea–orthodeoxia syndrome is a rare but important clinical condition characterized by positional dyspnea and arterial desaturation. Recognition is crucial because many cases are treatable once the underlying mechanism is identified.
Definition
Platypnea refers to worsening dyspnea in the upright position that improves when lying supine.
Orthodeoxia refers to a fall in arterial oxygen saturation or PaO₂ on assuming an upright posture, with improvement in the supine position.
Platypnea–orthodeoxia syndrome is defined by the coexistence of both features.
Pathophysiology
The hallmark of POS is position-dependent right-to-left shunting or severe ventilation–perfusion (V/Q) mismatch. When the patient stands or sits upright, anatomical or functional changes increase shunting or worsen perfusion of poorly ventilated lung zones, leading to hypoxemia. When supine, these abnormalities partially resolve.
Major Causes of Platypnea–Orthodeoxia Syndrome
1. Intracardiac Shunts
These are the most commonly described causes of POS.
• Patent foramen ovale (PFO)
• Atrial septal defect (ASD)
• Atrial septal aneurysm with fenestration
PFO is the most frequent association. However, a PFO alone is usually insufficient to cause POS. An additional anatomical or functional factor is typically required to redirect venous blood flow across the interatrial septum in the upright position.
Conditions that Promote Interatrial Septal Distortion
• Post lung transplantation
• Post-pneumonectomy
• Ascending aortic dilatation or aneurysm
• Kyphoscoliosis
• Right hemidiaphragm paralysis
These conditions alter cardiac geometry, especially in the upright posture, facilitating right-to-left shunting through a PFO or ASD even in the absence of pulmonary hypertension.
2. Pulmonary Causes (V/Q Mismatch or Intrapulmonary Shunt)
• Interstitial lung disease
• Pulmonary arteriovenous malformations
• Hepatopulmonary syndrome
In these disorders, upright posture increases perfusion to poorly ventilated or abnormally dilated vascular segments, worsening hypoxemia.
Hepatopulmonary Syndrome and POS
Hepatopulmonary syndrome is a classic pulmonary cause of POS. Intrapulmonary vascular dilatations are predominantly located in the lung bases, leading to marked orthodeoxia when standing due to gravity-dependent blood flow.
Clinical Presentation
• Dyspnea that worsens on sitting or standing
• Improvement of symptoms on lying flat
• Unexplained hypoxemia resistant to supplemental oxygen (especially in shunt physiology)
• Cyanosis in advanced cases
A careful history focusing on positional symptoms is essential, as routine evaluation may miss the diagnosis.
Diagnostic Evaluation
1. Pulse Oximetry and Arterial Blood Gases
Demonstrate a significant drop in oxygen saturation or PaO₂ when upright compared with supine.
2. Transthoracic Echocardiography
Initial screening to assess chamber size, septal abnormalities, and cardiac anatomy.
3. Contrast (Bubble) Echocardiography
Key diagnostic test. Agitated saline injected intravenously demonstrates right-to-left shunt. Performing the study in both supine and upright or semi-upright positions increases diagnostic yield.
4. Transesophageal Echocardiography
Provides detailed assessment of interatrial septum, PFO, ASD, and associated anatomical distortions.
5. CT Pulmonary Angiography or Contrast CT Chest
Useful for detecting pulmonary AV malformations or post-surgical anatomical changes.
6. Lung Perfusion Scans
Can help identify intrapulmonary shunting.
Management
Treatment depends on the underlying cause.
Intracardiac Shunts
• Percutaneous closure of PFO or ASD is highly effective
• Results in rapid and often complete resolution of symptoms and hypoxemia
Pulmonary Causes
• Pulmonary AV malformations: transcatheter embolization
• Hepatopulmonary syndrome: supportive oxygen therapy and liver transplantation in eligible patients
• Interstitial lung disease: disease-specific management
Supportive Care
• Supplemental oxygen
• Avoidance of prolonged upright posture until definitive treatment
Prognosis
The prognosis of platypnea–orthodeoxia syndrome is excellent when the underlying cause is identified and treated appropriately, particularly in cases due to intracardiac shunts. Delayed diagnosis can lead to prolonged morbidity and unnecessary investigations.
Key Takeaways
• Platypnea–orthodeoxia syndrome is a positional cause of dyspnea and hypoxemia
• PFO is the most common associated condition but usually requires an additional anatomical trigger
• Positional oxygen desaturation is the clinical clue
• Contrast echocardiography is central to diagnosis
• Many cases are curable with targeted intervention
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