Pineda VC, Amezcua GLM

Language: Spanish
References: 6
Page: 482-484
PDF size: 43.59 Kb.

ABSTRACT

Despite the discovery of its causative mutations (FBN1 gene), the diagnosis of the Marfan syndrome (MS) is problematic because of its extreme variability of clinical expression, absence of pathognomonic features, and phenotypic abnormalities shared with other heritable disorders of connective tissue. To facilitate its clinical recognition and to provide the basis for differential diagnosis with heritable conditions whose phenotypes partially overlap those of MS, a set of diagnostic criteria was established and recently revised. Major diagnostic criteria are ectopia lentis (hallmark of ocular involvement), dilatation and/or dissection of the ascending aorta (the major and life-threatening cardiovascular manifestations), dural ectasia (a valuable diagnostic pointer); and a combination of key musculoskeletal manifestations. The family history and molecular analysis also constitute major criteria.

REFERENCES

1. Marini JC: Heritable connective tissue disorders. In: Hochberg MC, Silman AJ, Smolen JS, et al. Editores. Rheumatology. 3rd Ed. Philadelphia, PA, USA. Mosby, 2003: p. 2161-71.

2. Dean JCS: Management of Marfan syndrome. Heart 2002; 88: 97-103.

3. Pineda C, Gurza A, Rodriguez MA, et al: Revised diagnostic criteria for the Marfan syndrome. A clinical-Radiographic Essay. J Clin Rheumatol 1998; 4: 278-86.

4. Godfrey M: The Marfan syndrome. In: Beighton P. Editor. McKusick’s Heritable Disorders of Connective Tissue. 5th Ed. St. Louis, Missouri, USA. Mosby, 1992: p. 51-135.

5. Pineda C, Zenteno M, Fernández-Tapia S, Martínez-Lavín M: Dural ectasia in the Marfan syndrome: Its recognition by conventional radiography. Arthritis Rheum 1993; 36(Suppl S117).

6. De Paepe A, Devereux RB, Dietz HC, Hennekan RCM, Pyeritz RE: Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet 1996; 62: 417-26.