Improving clinical recognition of Marfan syndrome.

BACKGROUND: Marfan syndrome is a potentially fatal disorder with cardiovascular, skeletal, and other manifestations that may also be seen in individuals without Marfan syndrome, making diagnosis difficult. Our goals were (1) to examine the ways in which patients have been recognized as having Marfan syndrome, (2) to examine the prevalence of current diagnostic findings, and (3) to determine which physically evident features are most sensitive and specific for referral to confirm a diagnosis of Marfan syndrome.

METHODS: Between 2005 and 2007, we prospectively studied 183 consecutive patients with identified Marfan syndrome (Marfan group) and 1257 orthopaedic patients and family members (non-Marfan group). For the Marfan group, we recorded age at the time of recognition and the methods by which the syndrome was recognized; we used Ghent criteria to identify physically and radiographically evident features. For the non-Marfan group, we examined for Ghent criteria that could be noted on the basis of a routine history, physical examination, or radiographs. We used means, odds ratios, and frequencies to analyze the diagnostic use of each finding (alpha = 0.05).

RESULTS: According to the Ghent criteria, 27% of patients in the Marfan group (mean age at the time of diagnosis, 7.3 years) had major skeletal involvement whereas 19% had zero or one skeletal feature. The most common physical features were craniofacial characteristics, high-arched palate, positive thumb and wrist signs, and scoliosis. In the non-Marfan group, 83% had one skeletal feature, 13% had two skeletal features, and 4% had three skeletal features or more. The physical features with the highest diagnostic yield were craniofacial characteristics, thumb and wrist signs, pectus excavatum, and severe hindfoot valgus.

CONCLUSIONS: Musculoskeletal clinicians should be aware of the diagnostic features of Marfan syndrome. Patients with three to four physically evident features, or two highly specific features (e.g., thumb and wrist signs, craniofacial features, dural ectasia, or protrusio), should be carefully reexamined and possibly referred for an echocardiogram or a genetics consultation.

LEVEL OF EVIDENCE: Diagnostic Level II. See Instructions to Authors for a complete description of levels of evidence.