Marfan's Syndrome

Exam Cram

• Genetic connective tissue disorder: autosomal dominant

• Gene affected: fibrillin-1

• Diagnosis (2-3): family history, aortic root dilatation, gene, upwards lens dislocation, clinical score (long limbs, arachnodactyly, pneumothorax)

• Management: betablockers and surveillance of aortic pathology

Outline

Background

• • Point prevalence: 1/5000 individuals. 25% de novo cases. 

  • Chromosone 15, gene FBN1

  • Major source of mortality: cardiac and aortic complications, almost fully mitigated by monitoring 

Assessment

History & examination (TALL PAMS)

• Thoraco-lumbar scoliosis

• Arachnodactyly (long thin digits) & other musculoskeletal signs

• Long limbs with respect to trunk

• Lens islocation (upwards), retinal detachment, cataracts

• Pectus excavatum/ carinatum

• Aortic regurgitation, dilatation & dissection

• Mitral regurgitation

• Spontaneous pneumothorax

Diagnosis

Diagnostic criteria:

Ghent criteria looks at: requiring 2-3/5 for diagnosis

• Family history

• Aortic root dissection

• Fibrillin gene

• Ectopia lens (lens dislocation)

• Clinical signs

Differentials

• Ehlers Danlos syndrome (EDS) : connective tissue disorder

• Homocystinuria  

• Klinefelter's Syndrome

• Downwards lens dislocation seen in homocystinuria.

Management

• Betablockers reduce after load and risk of aortic rupture

• Screening for aortic and cardiac pathology: 

  • • ECHO at diagnosis & 6 monthly [3] 

Med Reg Notes

Diagnosis Ghent criteria 2010: 

A

1. Family history for Marfan's

2. Presence of lens dislocation (upwards)

3. Aortic root dilatation

4. Systemic score: 7 points or more

B. Absence of family history 

• 2/3: Aortic root dilatation, Dislocated lens or FBN1 OR

• Aortic root dilatation and systemic score: 7 points or more

Clinical Score

2 points

• Pectus carinatum

• Hindfood deformity

• Spontaenous pneumothorax

• Dural Ectasia

• Protucio acetabulae

1 point

• Mitral valve prolapse

• Skin striae

• Severe myopia

• Facial features

• Reduced elbow extension

• Scoliosis or kyphosis

• Plain flat foot

• Wrist or thumb sign

• Pectus excavatum or chest asymmetry

References

1. Marfan syndrome (2022) Marfan Foundation. Available at: https://marfan.org/conditions/marfan-syndrome/ (Accessed: 05 October 2024).

2. Salik I, Rawla P. Marfan Syndrome. [Updated 2023 Jan 23]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK537339/ 

3. Hiratzka LF, Bakris GL, Beckman JA, Bersin RM, Carr VF, Casey DE Jr, Eagle KA, Hermann LK, Isselbacher EM, Kazerooni EA, Kouchoukos NT, Lytle BW, Milewicz DM, Reich DL, Sen S, Shinn JA, Svensson LG, Williams DM; American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines; American Association for Thoracic Surgery; American College of Radiology; American Stroke Association; Society of Cardiovascular Anesthesiologists; Society for Cardiovascular Angiography and Interventions; Society of Interventional Radiology; Society of Thoracic Surgeons; Society for Vascular Medicine. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation. 2010 Apr 6;121(13):e266-369. doi: 10.1161/CIR.0b013e3181d4739e. Epub 2010 Mar 16. Erratum in: Circulation. 2010 Jul 27;122(4):e410. PMID: 20233780. 

Page written in 2024.