An uncommon, autosomal dominant inherited disorder of connective tissue characterised by loss of elastic tissue, resulting in musculoskeletal deformities, lens subluxation, aortic dissection, and root aneurysms.
Multidisciplinary team of consultants 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's 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 consultants.
This autosomal dominant inherited disorder of connective tissue, characterised by loss of elastic tissue, affects numerous body systems, including the musculoskeletal, cardiovascular, neurological, 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
- 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
- hx of treatment for dental crowding
- hx of myopia and/or astigmatism
- reduced elbow extension
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.
Honorary Senior Lecturer
St George's Hospital
University Hospitals NHS Foundation Trust
MT declares that she has no competing interests.
Assistant Professor of Medicine
JHU Center for Inherited Heart Disease
Johns Hopkins Hospital
DJ declares that he has no competing interests.
Professor of Medicine and Genetics
University of Pennsylvania
REP declares that he has no competing interests.
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