What is the management for a patient with Marfan syndrome presenting with sharp ipsilateral pain and shortness of breath (SOB)?

Immediate Management of Marfan Syndrome with Sharp Ipsilateral Pain and Shortness of Breath

This presentation is a pneumothorax until proven otherwise, but you must simultaneously rule out life-threatening aortic dissection—the leading cause of death in Marfan syndrome. 1

Initial Diagnostic Approach

Immediate Imaging Required

• Obtain chest X-ray immediately to confirm pneumothorax, which occurs in Marfan syndrome due to apical bullae rupture and can present with sharp ipsilateral chest pain and dyspnea 2
• Simultaneously obtain CT angiography (CTA) of the chest to exclude Type A or Type B aortic dissection, as 15% of Marfan patients dissect at aortic diameters <5.0 cm and dissection is the predominant cause of death in >90% of untreated patients 1, 3
• Do not delay imaging for physical examination findings alone—aortic dissection can present with pleuritic chest pain mimicking pneumothorax 1

Critical Physical Examination Findings

• Assess for hemodynamic instability (hypotension, tachycardia) suggesting aortic dissection or tension pneumothorax 1
• Examine for unequal blood pressures between arms (>20 mmHg difference suggests dissection) 1
• Auscultate for new aortic regurgitation murmur (indicates aortic root involvement) 1
• Check for decreased breath sounds and hyperresonance on affected side (confirms pneumothorax) 2

Management Algorithm Based on Imaging Results

If Pneumothorax Confirmed WITHOUT Aortic Dissection

• Treat pneumothorax according to size: small pneumothorax (<2 cm) may be observed with supplemental oxygen; larger pneumothorax requires chest tube thoracostomy 2
• Perform video-assisted thoracoscopic surgery (VATS) with bullectomy for definitive treatment, as recurrence risk is high in Marfan syndrome due to underlying connective tissue defects 2
• Obtain baseline echocardiogram if not previously done to measure aortic root diameter at sinuses of Valsalva, as virtually every Marfan patient develops aortic disease 4, 5

If Aortic Dissection Confirmed (Type A or Type B)

• Type A dissection (involving ascending aorta) requires emergency surgical repair with composite graft replacement (Bentall procedure) regardless of aortic diameter 1, 6
• Type B dissection (descending aorta only) is initially managed medically with aggressive blood pressure control targeting systolic BP <120 mmHg (ideally <110 mmHg) using intravenous beta-blockers 1, 7
• Transfer immediately to cardiac surgery center with aortic expertise and multidisciplinary team experience in Marfan syndrome 6

If Both Pneumothorax AND Aortic Pathology Present

• Prioritize aortic dissection management first, as this is immediately life-threatening 1, 3
• Coordinate with cardiothoracic surgery to address both pathologies, potentially performing combined aortic repair and bullectomy in single operation 2

Post-Acute Management Considerations

Medical Therapy Initiation

• Start beta-blocker (propranolol or atenolol) AND angiotensin receptor blocker (losartan or irbesartan) in maximally tolerated doses to reduce aortic dilation rate, as combination therapy shows superior outcomes compared to monotherapy 1, 7
• Target heart rate <60-70 bpm and systolic BP <120 mmHg to reduce hemodynamic stress on aortic wall 7

Surveillance Imaging Schedule

• Perform echocardiography at 6 months after initial event to establish rate of aortic enlargement 1, 4
• Annual echocardiography if aortic root <4.5 cm and stable; increase to every 6 months if diameter ≥4.5 cm or growth rate ≥0.5 cm/year 1, 4
• CT or MRI of entire aorta annually to monitor descending thoracic and abdominal segments, as disease can occur distal to root especially after root replacement 1, 4

Surgical Timing for Elective Repair

• Prophylactic aortic root replacement is indicated when diameter reaches ≥5.0 cm (external diameter measurement) 1, 6
• Earlier surgery at ≥4.5 cm is reasonable with additional risk factors including: family history of dissection at <5.0 cm, rapid growth ≥0.5 cm/year, severe aortic regurgitation, or planned pregnancy 1, 6

Critical Pitfalls to Avoid

• Never assume chest pain is "just pneumothorax" without imaging the aorta—dissection and pneumothorax can coexist or present similarly 2
• Do not use internal diameter measurements from echocardiography alone for surgical decision-making—guidelines reference external diameters from CT/MRI, which are 0.2-0.4 cm larger 1
• Avoid delaying surgery until 5.5 cm threshold used in non-Marfan patients—Marfan patients dissect at smaller diameters and require earlier intervention 1, 6
• Do not discharge without establishing baseline aortic measurements and follow-up plan—untreated Marfan syndrome has mean life expectancy of only 32 years, but optimal management extends this to near-normal lifespan 3