Last reviewed: November 2017
Last updated: November  2017

Summary

Definition

History and exam

Key diagnostic factors

  • family history of Marfan disease
  • tall stature
  • wide arm span
  • high level of pubic bone
  • high arched palate
  • arachnodactyly
  • positive wrist sign
  • positive thumb sign
  • reduced elbow extension
  • 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
  • hx of treatment for dental crowding
  • hx of myopia and/or astigmatism

Other diagnostic factors

  • glaucoma
  • hx of spontaneous pneumothorax
  • striae
  • low back ache
  • joint pain
  • inguinal/abdominal/incisional hernias
  • dyspnea
  • signs of heart failure

Risk factors

  • FHx of Marfan syndrome
  • FHx of aortic dissection or aneurysm
  • high parental age

Diagnostic investigations

1st investigations to order

  • echocardiography
  • CT scan, thorax
  • slit-lamp eye examination with intraocular pressure measurement
  • ultrasound, abdomen
  • CXR
  • MRI, thorax
  • CT scan, abdomen
  • MRI, abdomen
Full details

Investigations to consider

  • blood screening for fibrillin-1 (FBN1) gene mutation
  • CT scan, lower spine
  • MRI, lower spine
  • skin biopsy
  • plasma homocysteine
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Honorary Consultant

Cardiology and Genetics

Cardiovascular and Cell Sciences Research Institute

St George's, University of London

London

UK

Disclosures

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

Consultant Cardiologist

Honorary Senior Lecturer

St George's Hospital

University Hospitals NHS Foundation Trust

London

UK

Disclosures

MT declares that she has no competing interests.

Peer reviewers VIEW ALL

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.

Professor of Medicine and Genetics

University of Pennsylvania

Philadelphia

PA

Disclosures

REP declares that he has no competing interests.

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