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
- hx of treatment for dental crowding
- hx of myopia and/or astigmatism
- reduced elbow extension
Other diagnostic factors
- glaucoma
- hx of spontaneous pneumothorax
- striae
- low back ache
- joint pain
- inguinal/abdominal/incisional hernias
- dyspnoea
- 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 intra-ocular pressure measurement
- ultrasound, abdomen
- CXR
- MRI, thorax
- CT scan, abdomen
- MRI, abdomen
Investigations to consider
- CT scan, lower spine
- blood screening for fibrillin-1 (FBN1) gene mutation
- MRI, lower spine
- skin biopsy
- plasma homocysteine
Treatment algorithm
Contributors
Authors
Reader in Cardiovascular Genetics
Molecular and Clinical 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
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.
Use of this content is subject to our disclaimer