Presenting signs and clinical diagnosis in individuals referred to rule out Marfan syndrome

Abstract

Objective: To evaluate presenting signs and clinical diagnosis in a cohort of patients referred to rule out Marfan syndrome.

Methods: A retrospective chart review was performed on patients referred to the Cleveland Clinic Foundation between November 1993 and July 2001 to rule out Marfan syndrome. Clinical findings necessary for the diagnosis of the disorder according to current criteria (De Paepe et al., Am J Med Genet. 1996;62:417-426) were determined through complete physical examination and testing, including an echocardiogram and a slit-lamp examination. Information regarding age, sex, reason for evaluation, family history, symptoms, and ultimate clinical diagnosis were extracted from the charts.

Results: Seventy-five patients averaging 23.5 years of age completed a comprehensive evaluation to rule out Marfan syndrome. A clinical diagnosis of this condition was made in 28 (37%) patients (12 males, 16 females). Reasons for referral included one or more of the following: (1) the finding by a physician of one or more typical clinical manifestations of the disease; (2) a known family history of the syndrome; and/or (3) curiosity on the part of the patient or family as a result of publicity about Marfan syndrome in lay or medical journals or in television programs. Twenty-eight individuals (37% of the total group) were referred because of skeletal findings common to the syndrome. Of these, 10 (36%) were diagnosed with the disease. Seven (78%) of the nine patients who presented with ocular signs or symptoms were ultimately diagnosed with the disorder. Of the 22 individuals referred because of cardiovascular signs or symptoms, nine (41%) were diagnosed with Marfan syndrome. Twelve (31%) of 39 individuals with a known family history of Marfan syndrome or symptoms common to this condition had a positive diagnosis. Of six individuals evaluated in response to publicity about the disease, two (33%) were ultimately diagnosed with the disorder.

Conclusion: The most common reasons for evaluation to rule out Marfan syndrome include a positive family history of the condition and the presence of one of its common manifestations (e.g., body habitus, cardiac abnormalities, or subluxated lenses). In the present series of patients, the physical finding that predicted the diagnosis most was subluxation of the ocular lens.