In station 5 you may be asked to assess a patient with chest pain, breathlessness, visual disturbance etc.
HISTORY (3 minutes):
- Cardio systems review: chest pain etc.
- Resp systems review: cough, SOB etc.
- Skin changes, joint hypermobility, eye problems
- Height, flat feet
- Neuro screen: weakness, sensory disturbance, bowel/bladder disturbance (dural ectasia)
- PMH, Fx, Dx, Sx
Examine (3 minutes):
Standing
- Height, arm span (increased arm span to height ratio)
- Observe for kyphoscoliosis
- Observe for pes planus
Sitting
- Hands and arms: arachnodactyly (wrist sign and thumb sign), collapsing pulse (AR), peripheral stigmata of infective endocarditis, BP (wide pulse pressure)
- Face: long and narrow
- Eyes: blue sclerae, iridodonesis (vibration of the iris with eye movement) should raise the concern for ectopia lentis, cataract, enopthalmos, VA (myopia) and fundoscopy if reports of visual disturbance
- Mouth: high-arched palate, crowded teeth
- Chest: pectus excavatum/carinatum, scars from chest drain/surgery (aortic aneurysm repair), auscultate lungs (pneumothorax), auscultate heart sounds (AR, MVP)
- Abdo: striae, offer to assess for inguinal herniae
- Legs: neuro assessment for weakness, sensation (dural ectasia)
ICE+Explanation (2 minutes)
VIVA
An inherited connective tissue disorder
Mutation in FBN1 gene encoding fibrillin-1 protein on chromosome 15
Autosomal dominant
1 in 5000
Risk of aortic dissection/aneurysm/regurgitation.
Also associated with risk of infective endocarditis, mitral valve prolapse
Systems involved: CVS, ocular, musculoskeletal, respiratory, skin, CNS
Be familiar with the Revised Ghent criteria for diagnosis. This focuses on the features listed below:
- Family history of Marfan’s syndrome
- Aortic root dilatation/dissection and ectopia lentis = the cardinal features of Marfan’s
- FBN1 mutation
- Systemic score: wrist sign, thumb sign, pectus carinatum/excavatum, pes planus, pneumothorax, dural ectasia, protrusion acetabula, increased arm span/height ratio, reduced upper segment/lower segment ratio, scoliosis or thoracolumbar kyphosis, reduced elbow extension, facial features (dolichocephaly, enophthalmos, downslanting palpebral fissures, malar hypoplasia, retrognathia), skin striae, myopia, mitral valve prolapse
Differential Diagnoses:
- Homocystinuria (downward lens dislocation, cognitive involvement, recurrent thrombosis, no heart involvement)
- MEN 2b (Marfanoid body habitus, mucosal neuromas, medullary thyroid cancer, phaeochromocytoma, no eye/heart involvement)
- Ehlers-Danlos (see “Station 5 Ehlers-Danlos syndrome”)
- MASS phenotype (mitral valve prolapse, borderline but no progressive aortic dilatation, striae atrophica, and at least one skeletal feature)
Investigations:
ECG
CXR (widened mediastinum, pneumothorax)
Echo
Genetic testing
Management:
Ophthalmology and cardiology assessments
Regular aortic surveillance (annual echo to look at aortic root diameter and aortic dilatation). Beta-blockers and ARBs reduce dilatation and delays surgery
Control BP
Avoid high-intensity exercise
May need aortic root repair (≥ 45mm)/ aortic valve replacement
Screen family members
Written by Dr Sarah Kennedy
Resources used to write this document include those listed in the references section of this webpage and also: