Marfan syndrome

Marfan syndrome is an 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 the diagnosis clinically and genetically using fibrillin-1 gene screen, and manage treatment options.

Dilation of the aorta may be progressive, but dilation may be delayed by beta-blockers or angiotensin-II receptor antagonists or in combination. The risk of aortic dissection or rupture increases with the size of the aortic dimension 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 extent operation, which bears the same 1% mortality risk when performed electively by an experienced surgeon.

Acute aortic dissection generally 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 diagnosis of classic Marfan syndrome relies on a set of clinical criteria, defined by the Ghent nosology, where cardinal features include aortic root aneurysm and ectopia lentis.[2]Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-85. http://www.ncbi.nlm.nih.gov/pubmed/20591885?tool=bestpractice.com ​ Diagnosis is confirmed either by the presence of these two cardinal features, or by finding a causative mutation in the fibrillin-1 gene.[3]Tinkle BT, Lacro RV, Burke LW, et al. Health supervision for children and adolescents with Marfan syndrome. Pediatrics. 2023 Apr 1;151(4):e2023061450. http://www.ncbi.nlm.nih.gov/pubmed/36938616?tool=bestpractice.com ​ Children and adolescents may not fulfil this formal diagnostic criteria and are often described as having 'potential' Marfan based on clinical features and a positive family history.[3]Tinkle BT, Lacro RV, Burke LW, et al. Health supervision for children and adolescents with Marfan syndrome. Pediatrics. 2023 Apr 1;151(4):e2023061450. http://www.ncbi.nlm.nih.gov/pubmed/36938616?tool=bestpractice.com Skin striae, dural ectasia, hernias, pneumothorax, and emphysematous bullae on chest x-ray may also be noted.[2]Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-85. http://www.ncbi.nlm.nih.gov/pubmed/20591885?tool=bestpractice.com