Marfan syndrome: clinical diagnosis and management
- 9 May 2007
- journal article
- review article
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 15 (7), 724-733
- https://doi.org/10.1038/sj.ejhg.5201851
Abstract
Marfan syndrome is a multisystem connective tissue disorder usually associated with mutation in fibrillin, and occasionally with mutation in TGFBR1 or 2. The clinical diagnosis is made using the Ghent nosology, which will unequivocally diagnose or exclude Marfan syndrome in 86% of cases. Use of a care pathway can help implementation of the nosology in the clinic. The penetrance of some features is age dependent, so the nosology must be used with caution in children. Molecular testing may be helpful in this context. The nosology cannot be used in families with isolated aortic dissection, or with related conditions such as Loeys–Dietz syndrome, although it may help identify families for further diagnostic evaluation because they do not fulfill the nosology, despite a history of aneurysm. Prophylactic medical (eg -blockade) and surgical intervention is important in reducing the cardiovascular complications of Marfan syndrome. Musculoskeletal symptoms are common, although the pathophysiology is less clear – for example, the correlation between dural ectasia and back pain is uncertain. Symptoms in other systems require specialist review such as ophthalmology assessment of refractive errors and ectopia lentis. Pregnancy is a time of increased cardiovascular risk for women with Marfan syndrome, particularly if the aortic root exceeds 4 cm at the start of pregnancy. High-intensity static exercise should be discouraged although low-moderate intensity dynamic exercise may be beneficial. The diagnosis and management of Marfan syndrome requires a multidisciplinary team approach, in view of its multisystem effects and phenotypic variability.Keywords
This publication has 69 references indexed in Scilit:
- Dilation of the thoracic aorta: medical and surgical managementHeart, 2006
- Clinical features in a family with an R460H mutation in transforming growth factor receptor 2 geneJournal of Medical Genetics, 2006
- Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan SyndromeScience, 2006
- Neurovascular Complications of Marfan SyndromeStroke, 2002
- Effect of long-term β-blockade on aortic root compliance in patients with Marfan syndromeAmerican Heart Journal, 1999
- Replacement of the Aortic Root in Patients with Marfan's SyndromeThe New England Journal of Medicine, 1999
- Heterogeneous aortic response to acute β-adrenergic blockade in Marfan syndromeAmerican Heart Journal, 1997
- Is Marfan Syndrome Associated With Symptomatic Intracranial Aneurysms?Stroke, 1996
- Surgical management of children and young adults with marfan syndrome and pectus excavatumJournal of Pediatric Surgery, 1988
- The Marfan Syndrome: Diagnosis and ManagementThe New England Journal of Medicine, 1979