FRCA Notes

Marfan Syndrome

Connective tissue diseases don't make the curriculum cut, but are included for their anaesthetic relevance.

Resources

  • Most common autosomal dominant inherited connective tissue disease (although 30% of cases appear de novo)
  • Incidence 2-3/10,000
  • Life expectancy 72yrs due to improved management

  • Fibrillin-1 (FBN1) gene mutation on chromosome 15
  • Fibrillin forms the main component of the microfibrils that form the elastic tissue of the aortic media
  • Mutations increase susceptibility of the elastic fibres to proteolysis and there is stiffening of the aortic wall
  • Diagnosed using the modified Ghent criteria

Airway

  • High-arched palate
  • Prognathism
  • Joint hypermobility means TMJ can dislocate if excessive traction

Respiratory

  • Risk of spontaneous pneumothorax
  • Emphysema
  • Restrictive lung disease due to chest wall deformity and/or concurrent scoliosis

Cardiovascular

  • Aortic root dilatation (50%)
    • Increased risk of aortic dissection
    • TTE yearly if aortic root diameter <4.5cm, twice-yearly if >4.5cm
    • Should be referred for consideration of cardiac surgery (e.g. Bentall procedure) once >5cm, rapidly progressive (>5mm/yr), worsening AR or FHx of dissection

  • Aortic dissection
    • ARD >5cm, progressive and/or rapid aortic root dilatation and a family history of dissection are risk factors
  • Mitral or tricuspid valve prolapse
  • Aortic regurgitation
  • PA dilation and pulmonary HTN
  • Congestive cardiac failure

Neurological

  • Dural ectasia (63 - 92%)
    • Widening of the dural sac, typically in the lumbo-sacral area
    • Often asymptomatic but may cause headache, pain in lower back or perineum, or weakness/numbness of the lower limbs
    • Can restrict spread of LA resulting in failure of spinal technique
    • Increased risk of accidental dural puncture

Ocular

  • Lens dislocation
  • Retinal detachment
  • Myopia
  • Glaucoma

MSK

  • Tall stature with increased arm span-to-height ratio
  • Scoliosis
  • Pectus deformity
  • Joint hypermobility (but reduced hip joint movement)

Other

  • Recurrent inguinal, femoral or umbilical hernias

Perioperative management of the patient with Marfan syndrome


History and examination

  • Careful airway assessment and planning as may have difficult laryngoscopic views
  • Elicit drugs; often taking β-blockers but may also be on angiotensin receptor antagonists, diuretics or anticoagulants

Investigations

  • Lung function testing if concerns re: restrictive defect
  • 12-lead ECG
  • TTE
  • If a neuraxial technique is planned, consider need for MRI to delineate the dural anatomy

Optimisation

  • Consider cardiology input
  • If on β-blockers continue therapy in the perioperative period
  • Consider continuing anti-hypertensives until morning of surgery to balance risk of hypertension/dissection against intra-operative hypotension
  • Consider pre-medication to reduce anxiety-associated increases in HR and BP

Monitoring and access

  • AAGBI
  • Low threshold for A-line, especially if high risk of dissection or significant valvular pathology

Anaesthetic technique

  • No technique superior; aim to minimise haemodynamic stress regardless
  • A GA technique may be preferable in case of intra-operative dissection, whereby the patient is already anaesthetised for cardiac surgery(!)

  • Aim to obtund the pressor response to laryngoscopy in order to avoid excessive hypertension and/or tachycardia
  • E.g. remifentanil infusion, labetalol
  • Ensure short-acting vasodilating agents are available to manage hypertension e.g. GTN
  • Avoid ephedrine; phenylephrine is preferable
  • Adequate pain control

  • Lung-protective ventilatory strategies due to risk of pneumothorax
  • Chest wall deformities may reduce compliance
  • Monitor and minimise peak inspiratory pressures due to increased risk of pneumothorax

  • Dural ectasia is not an absolute contra-indication to neuraxial techniques

Care bundle

  • Careful ocular protection and padding
  • Ensure careful handling and positioning due to increased risk of joint subluxation/dislocation

  • Marfan syndrome is a modified WHO class III (if aortic root <4.5cm) or IV (>4.5cm) condition
  • Increased cardiovascular risk due to:
    • Hyperdynamic circulation
    • Maternal hormonal influence on elastin and collagen
  • Risk of peripartum aortic dissection 10% if the aortic root diameter is >4cm (vs. only 1% if <4cm)
  • Most dissections occur in the third trimester (50%) or post-partum period (33%)

  • Careful planning is required including:
    • Labetalol as the β-blocker of choice
    • Genetic counselling
    • MDT input from Obstetric, Anaesthetic and Cardiology teams
    • MDT delivery plan in an appropriate centre

  • European Society of Cardiology recommend:
    • Aortic root <4cm: assisted vaginal delivery without progressive dilatation during pregnancy
    • Aortic root >4.5cm: elective LSCS
  • No consensus on optimum mode of anaesthesia
  • CSE may be optimal in case of spinal anaesthetic failure due to dural ectasia
  • Use of neuraxial ultrasound can reduce risk of dural puncture

  • Post-operative monitoring in HDU setting as dissection can occur in the post-partum setting even in absence of pre-existing aortic enlargement

  • Consider need for HDU
  • Adequate multi-modal analgesia to reduce pain-associated hypertension/tachycardia