Marfan’s Syndrome

In Station 5 you may be asked to assess a patient presenting with chest pain, breathlessness, or visual disturbance.

1. Key History-Taking Points

Cardiovascular Symptoms

• Chest pain: onset, character, radiation — tearing/ripping pain radiating to the back raises concern for aortic dissection
• Breathlessness: onset, exertional vs rest, orthopnoea, PND (aortic regurgitation, heart failure, mitral valve prolapse)
• Palpitations: arrhythmia (MVP, aortic regurgitation)
• Syncope or pre-syncope
• Known heart murmur or previous cardiac investigations

Respiratory Symptoms

• Sudden-onset pleuritic chest pain and breathlessness: spontaneous pneumothorax (tall, thin young patients at high risk)
• Cough, wheeze

Ocular Symptoms

• Visual disturbance, blurred or reduced vision (ectopia lentis, myopia)
• Monocular visual disturbance or loss (lens dislocation)
• Known short-sightedness (myopia is common in Marfan’s)
• Glasses or contact lens use

Musculoskeletal & Physical Features

• Tall stature, long limbs — has anyone commented on height?
• Joint hypermobility, joint pain, recurrent dislocations
• Back pain, spinal curvature (scoliosis, kyphosis)
• Flat feet (pes planus)
• Skin stretch marks (striae)

Neurological Screen

• Weakness or sensory disturbance in the limbs
• Bowel or bladder disturbance (dural ectasia — enlargement of the dural sac in the lumbosacral region)
• Headache, visual field disturbance

Past Medical, Drug & Family History

• PMH: previous aortic surgery, pneumothorax, lens surgery, cardiac investigations
• Medications: beta-blockers or ARBs (aortic surveillance treatment), anticoagulants
• Family history: Marfan’s syndrome is autosomal dominant — first-degree relatives affected? Any sudden cardiac death in the family (aortic dissection)?
• Exercise: current level — high-intensity exercise and contact sports should be avoided

2. Key Examination Findings

Standing

• Height: tall stature
• Arm span to height ratio: increased arm span (>1.05 arm span:height ratio)
• Kyphoscoliosis: inspect spine from behind and side
• Pes planus: inspect medial arches of both feet (flat feet)

Hands & Arms — Sitting

• Arachnodactyly: long, slender, spider-like fingers
  • Wrist sign (Walker sign): thumb and little finger overlap when wrapped around the contralateral wrist
  • Thumb sign (Steinberg sign): thumb protrudes beyond the ulnar border of the hand when folded across the palm
• Pulse: collapsing (waterhammer) pulse — aortic regurgitation
• Peripheral stigmata of infective endocarditis: splinter haemorrhages, Osler’s nodes, Janeway lesions, clubbing
• Blood pressure: wide pulse pressure (aortic regurgitation); measure both arms (aortic dissection can cause asymmetry)
• Reduced elbow extension: limited extension is a Ghent criterion

Face

• Dolichocephaly: long, narrow face
• Enophthalmos: sunken eyes
• Downslanting palpebral fissures
• Malar hypoplasia: flat cheekbones
• Retrognathia: receding chin

Eyes

• Blue sclerae
• Iridodonesis: tremulousness/vibration of the iris on eye movement — raises concern for ectopia lentis (superiorly displaced lens)
• Visual acuity: myopia is common
• Fundoscopy if visual disturbance reported (retinal detachment, optic disc changes)
• Cataract

Mouth

• High-arched (gothic) palate
• Crowded teeth

Chest

• Chest wall deformities: pectus excavatum (funnel chest) or pectus carinatum (pigeon chest)
• Scars: chest drain scars (previous pneumothorax), median sternotomy or thoracotomy (aortic aneurysm/valve surgery)
• Auscultate lungs: absent breath sounds (pneumothorax)
• Auscultate heart: early diastolic murmur at left sternal edge (aortic regurgitation); mid-systolic click ± late systolic murmur (mitral valve prolapse)

Abdomen & Lower Limbs

• Striae: skin stretch marks on abdomen, thighs, back
• Offer to assess for inguinal herniae
• Protrusion acetabulae: deep hip socket (assess on imaging)
• Neurological assessment of lower limbs: power, sensation, reflexes (dural ectasia)

3. Specific Investigations

• ECG: arrhythmias, left ventricular hypertrophy (chronic AR), prolonged QT
• CXR: widened mediastinum (aortic aneurysm/dissection), pneumothorax, cardiomegaly
• Echocardiogram: aortic root diameter, aortic regurgitation, mitral valve prolapse — the single most important investigation for ongoing surveillance; annual echo recommended
• CT aorta / MRI: if dissection suspected or for detailed aortic mapping
• Slit-lamp examination: ectopia lentis (ophthalmology referral)
• Genetic testing: FBN1 mutation (chromosome 15); enables family screening
• MRI lumbosacral spine: if dural ectasia suspected (bowel/bladder symptoms, back pain)

4. Management

Specialist Referral & Surveillance

• Cardiology: annual echocardiogram to monitor aortic root diameter and rate of dilatation
• Ophthalmology: assessment for ectopia lentis, myopia, retinal detachment, cataract
• Genetics: confirm diagnosis, family screening, genetic counselling
• Orthopaedics: scoliosis, pes planus, joint hypermobility management

Cardiovascular Medical Management

• Beta-blockers (e.g. atenolol, propranolol) — reduce aortic wall stress and rate of dilatation
• Angiotensin receptor blockers (e.g. losartan) — shown to slow aortic root dilatation; used alongside or instead of beta-blockers
• Blood pressure control — strict targets to reduce aortic wall stress

Lifestyle Advice

• Avoid high-intensity exercise, contact sports, and isometric exercise (weight-lifting) — increases aortic wall stress
• Avoid activities with risk of blunt chest trauma
• Advise re: pregnancy risks (aortic dissection risk increases during pregnancy)

Surgical

• Aortic root repair / replacement: indicated when aortic root diameter ≥45 mm (or lower threshold in the presence of rapid progression, family history of dissection, or severe AR)
• Aortic valve replacement if significant aortic regurgitation
• Mitral valve repair/replacement if severe MVP with regurgitation
• Pneumothorax: chest drain if significant; surgical intervention (pleurodesis, VATS) for recurrent pneumothorax

Family Screening

• Screen all first-degree relatives with echocardiogram and clinical assessment
• Genetic testing for FBN1 mutation in affected families

Marfan’s Syndrome Cheat Sheet