Marfan syndrome

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.[1]Pyeritz AE. The Marfan syndrome. Annu Rev Med. 2000;51:481-510. http://www.ncbi.nlm.nih.gov/pubmed/10774478?tool=bestpractice.com 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.[2]Beighton P, de Paepe A, Danks D, et al. International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet. 1988 Mar;29(3):581-94. http://www.ncbi.nlm.nih.gov/pubmed/3287925?tool=bestpractice.com 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.