Marfan Syndrome

Inheritance

• Autosomal dominant

Common Complications

• Heart

  • Aortic root dilatation (aortic regurgitation)

  • Thoracic aortic aneurysm/dissection

  • Mitral valve prolapse (most common valvular involvement in Marfan’s)

• Eyes

  • Lens subluxation (ectopia lentis)

  • Iridodonesis (vibration of iris with eye movement)

  • Increased risk of retinal detachment

• Lungs

  • Spontaneous pneumothorax (due to lung bullae)

• Musculoskeletal

  • Joint hypermobility

  • Scoliosis and kyphosis

Symptoms & Signs

• Tall stature with long limbs and fingers (arachnodactyly)

• Hypermobile joints

• Chest deformities: pectus excavatum or carinatum

• High-arched palate

• Visual disturbances: myopia, lens dislocation

• SOB or chest pain (may indicate pneumothorax or aortic involvement)

Cardiovascular Monitoring

• Echocardiography

  • Perform every 6–12 months to monitor aortic root size and progression of dilatation

  • Refer for cardiology review if aortic diameter >4.5 cm, or earlier if rapid growth observed

• BP Target

  • Maintain <130/80 mmHg to reduce aortic stress

• Medication

  • Beta-blockers (e.g. atenolol) or ARBs (e.g. losartan) to help slow the rate of aortic root dilatation

  • Typically introduced if there is evidence of root enlargement (>4.0 cm) or rapid progression

Activity Restrictions

• Avoid high-intensity sports (e.g. weightlifting, contact sports)

• Promote low-intensity, non-straining activities (e.g. walking, swimming)

• Avoid activities that cause abrupt BP elevation (e.g. sudden exertion)

• Regular cardiology follow-up is critical to assess risk and progression

Notes:

• Family Screening

  • First-degree relatives should have clinical evaluation and echocardiography, as Marfan syndrome is autosomal dominant and may be under-recognised in mild cases

• Genetic Testing

  • Consider if clinical features are borderline or to confirm diagnosis (FBN1 gene mutation), especially in unexplained aortic aneurysm/dilatation

• Pregnancy Considerations

  • Increased risk of aortic complications during pregnancy

  • Preconception counselling and close monitoring essential if aortic root is dilated or rapidly expanding

• Multidisciplinary Care

  • Co-ordination with cardiology, ophthalmology, and genetic services is recommended for best outcomes

  • GP oversight is vital for ongoing monitoring, lifestyle advice, and family education