Marfan Syndrome is an uncommon, autosomal dominant inherited disorder of connective tissue characterised by loss of elastic tissue, resulting in musculoskeletal deformities, lens subluxation (dislocation), aortic dissection, and root aneurysms.
Multidisciplinary team of consultants confirm diagnosis clinically and genetically using fibrillin-1 gene screen, and manage treatment.
Dilation of aorta progressive if diameter is over upper normal limit in adult of 3.8 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's reimplantation operation with preservation of aortic valve leaflets and replacement of the aortic root. A second operation is becoming more widely available, namely PEARS exstent operation, which bears the same 1% mortality risk when performed electively by an experienced surgeon.
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 consultants.
This autosomal dominant inherited disorder of connective tissue, affects both men and women and is characterised by loss of elastic tissue, affecting numerous body systems, including the musculoskeletal, cardiovascular, neurological, and respiratory systems, and the skin and eyes. The essential simplified clinical 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 chest x-ray may also be noted.
Diagnosis is confirmed by finding a causative mutation in the fibrillin-1 gene.
History and exam
Key diagnostic factors
- presence of risk factors
- 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
- history of treatment for dental crowding
- history of myopia and/or astigmatism
- reduced elbow extension
Other diagnostic factors
- history of spontaneous pneumothorax
- low back ache
- joint pain
- inguinal/abdominal/incisional hernias
- signs of heart failure
- family history of Marfan syndrome
- family history of aortic dissection or aneurysm
- high paternal age
1st investigations to order
- CT scan, thorax
- slit-lamp eye examination with intra-ocular pressure measurement
- ultrasound, abdomen
- chest x-ray
- 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
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
- Aortic dissection not associated with Marfan syndrome
- Bicuspid aortic valve
- Ehlers-Danlos syndrome
- Guideline for the diagnosis and management of aortic disease
- 2021 ESC/EACTS guidelines for the management of valvular heart disease
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