CONTRIBUTION OF A MULTIDISCIPLINARY CONSULTATION FOR THE DIAGNOSIS OFMARFANS-SYNDROME

OBJECTIVES: To facilitate diagnosis, define a strategy for prevention and treatment and obtain further insight concerning Marfan's disease, we conducted a series of multidisciplinary consultations in French cli nics. PATIENTS AND METHODS: Five specialists (a genetics specialist, a pediatrician or a rheumatologist, an ophthalmologist, and a psycholog ist) saw all the patients successively in the same clinic A synthesis of the clinical files was prepared for analysis. Since the first consu ltation on 1 January 1995 and the study end on 30 June 1997, 494 patie nts (67% adults) participated in primary consultations, 143 were seen at follow-up consultations. RESULTS: The diagnosis of Marfan's disease was affirmed in 41% of the patients, disaffirmed in 48% and uncertain in 11%. Among the Marfan's patients, 75% were seen again within the f ramework of a multidisciplinary follow-up consultations. Annual work-u p included cardiology (echocardiography with measurement of the proxim al aorta diameter in search for indication for beta-blocker therapy or preventive valve replacement), ophthalmology (lens, retina) and rheum atology examinations (skeletal involvement). CONCLUSION: Early diagnos is and rigorous follow-up can help prevent ocular and cardiac complica tions in Marfan's disease. The multidisciplinary approach provides mor e precise data for diagnosis and possible phenotype-genotype correlati ons.