Marfan syndrome

Last reviewed: 29 Oct 2022
Last updated: 15 Nov 2022

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • tall stature
  • wide arm span
  • high level of pubic bone
  • high arched palate
  • arachnodactyly
  • positive wrist sign
  • positive thumb sign
  • pectus excavatum (funnel chest)
  • pectus carinatum (pigeon breast)
  • scoliosis
  • flat feet (pes planus)
  • dislocated/subluxed eye lens
  • myopia and/or astigmatism
  • retinal abnormalities
  • joint hypermobility
  • aortic valve murmur
  • mitral valve murmur
  • history of treatment for dental crowding
  • history of myopia and/or astigmatism
  • reduced elbow extension
More key diagnostic factors

Other diagnostic factors

  • glaucoma
  • history of spontaneous pneumothorax
  • striae
  • low back ache
  • joint pain
  • inguinal/abdominal/incisional hernias
  • dyspnoea
  • signs of heart failure
Other diagnostic factors

Risk factors

  • family history of Marfan syndrome
  • family history of aortic dissection or aneurysm
  • high paternal age
More risk factors

Diagnostic investigations

1st investigations to order

  • echocardiography
  • CT scan, thorax
  • slit-lamp eye examination with intra-ocular pressure measurement
  • ultrasound, abdomen
  • chest x-ray
  • MRI, thorax
  • CT scan, abdomen
  • MRI, abdomen
More 1st investigations to order

Investigations to consider

  • CT scan, lower spine
  • blood screening for fibrillin-1 (FBN1) gene mutation
  • MRI, lower spine
  • skin biopsy
  • plasma homocysteine
More investigations to consider

Treatment algorithm

ACUTE

aortic dilation meeting the indications for surgery

retinal tear or detachment

ONGOING

aortic dilation not meeting indications for surgery or following aortic surgery

myopia

lens subluxation/dislocation

retinal detachment

cataract

scoliosis/kyphoscoliosis

severe pectus excavatum/carinatum with evidence of cardiopulmonary compromise

arthropathy and/or spondylolisthesis

Contributors

Authors

Anne Child, MD, FRCP

Medical Director Marfan Trust

Honorary Consultant Royal Brompton Group GSTT NHS Foundation Trust

Keston

Kent

UK

Disclosures

AC is an author of several references cited in this topic but has no competing interests.

Aman Chandra, BSc (Hons), MBBS, FRCOphth, PhD, MFSTEd, FRCSEd

Consultant Ophthalmologist with a special interest in retinal diseases and vitreoretinal surgery

Southend University Hospital

Southend-on-Sea

UK

Disclosures

AC declares that he has no competing interests.

Acknowledgements

Dr Anne Child and Dr Aman Chandra would like to gratefully acknowledge Dr Maite Tome, the previous contributor to this topic. Dr Anne Child and Dr Aman Chandra would also like to thank Anna Apara for her work on this topic.

Disclosures

MT and AA declare that they have no competing interests.

Peer reviewers

Daniel Judge, MD

Assistant Professor of Medicine

Medical Director

JHU Center for Inherited Heart Disease

Johns Hopkins Hospital

Baltimore

MD

Disclosures

DJ declares that he has no competing interests.

Reed E. Pyeritz, MD, PhD

Professor of Medicine and Genetics

University of Pennsylvania

Philadelphia

PA

Disclosures

REP declares that he has no competing interests.

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