An uncommon, autosomal dominant inherited disorder of connective tissue characterized by loss of elastic tissue, resulting in musculoskeletal deformities, lens subluxation, aortic dissection, and root aneurysms.
Multidisciplinary team of specialists confirm diagnosis and manage treatment.
Dilation of aorta progressive if diameter is approximately >4.5 cm, but dilation may be delayed by beta-blockers, angiotensin-II receptor antagonists, or verapamil. Risk of aortic dissection beyond this size or with pregnancy.
Standard of elective surgical care for aortic dilation is modified David reimplantation operation with preservation of aortic valve leaflets and replacement of the aortic root.
Acute aortic dissection requires immediate surgical repair and has reduced long-term survival.
Other manifestations of Marfan syndrome (e.g., lens subluxation and/or cataract, glaucoma, retinal detachment, dural ectasia, scoliosis, and pulmonary complications) require treatment from appropriate medical or surgical specialists.
This autosomal dominant inherited disorder of connective tissue, characterized by loss of elastic tissue, affects numerous body systems, including the musculoskeletal, cardiovascular, neurologic, and respiratory systems, and the skin and eyes. The essential simplified criteria for diagnosis are 3 out of the 4 following findings: relevant family history, specific musculoskeletal abnormalities, ocular lens subluxation, and aortic dilation/dissection. Skin striae, dural ectasia, hernias, pneumothorax, and emphysematous bullae on CXR may also be noted.
History and exam
Key diagnostic factors
- family history of Marfan disease
- tall stature
- wide arm span
- high level of pubic bone
- high arched palate
- positive wrist sign
- positive thumb sign
- pectus excavatum (funnel chest)
- pectus carinatum (pigeon breast)
- 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
- hx of spontaneous pneumothorax
- low back ache
- joint pain
- inguinal/abdominal/incisional hernias
- signs of heart failure
- FHx of Marfan syndrome
- FHx of aortic dissection or aneurysm
- high parental age
1st investigations to order
- CT scan, thorax
- slit-lamp eye examination with intraocular pressure measurement
- ultrasound, abdomen
- MRI, thorax
- CT scan, abdomen
- MRI, abdomen
Investigations to consider
- blood screening for fibrillin-1 (FBN1) gene mutation
- CT scan, lower spine
- MRI, lower spine
- skin biopsy
- plasma homocysteine
aortic dilation meeting the indications for surgery
retinal tear or detachment
aortic dilation not meeting indications for surgery or following aortic surgery
severe pectus excavatum/carinatum with evidence of cardiopulmonary compromise
arthropathy and/or spondylolisthesis
Anne Child, MD, FRCP
Reader in Cardiovascular Genetics
Molecular and Clinical Sciences Research Institute
St George's University of London
AC is an author of several references cited in this monograph but has no competing interests.
Maite Tome, MD, PhD
Honorary Senior Lecturer
St George's Hospital
University Hospitals NHS Foundation Trust
MT declares that she has no competing interests.
Daniel Judge, MD
Assistant Professor of Medicine
JHU Center for Inherited Heart Disease
Johns Hopkins Hospital
DJ declares that he has no competing interests.
Reed E. Pyeritz, MD, PhD
Professor of Medicine and Genetics
University of Pennsylvania
REP declares that he has no competing interests.
- Aortic dissection not associated with Marfan syndrome
- Bicuspid aortic valve
- Ehlers-Danlos syndrome
- Evaluation of the adolescent or adult with some features of Marfan syndrome
- Recent developments in the diagnosis of Marfan syndrome and related disorders
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