Clinical presentation and echocardiographic findings of Thai patients with Marfan syndrome.

OBJECTIVE: Marfan syndrome is an inherited disorder with systemic connective tissue involvement. The condition is clinically diverse and extremely pleiotropic. Though several articles had been published, no data from Thai individuals has ever been reported. Here we presented clinical manifestations and echocardiographic findings of Thai patients with Marfan syndrome. MATERIAL AND METHOD: Clinical and echocardiographic data were collected from series of Thai index cases with diagnosis of Marfan syndrome at Siriraj Hospital between 1995 and 2009. Demographic data, clinical presentations, and echocardiographic data were reviewed and analyzed. RESULTS: Fifty individuals and thirty echocardiograms were identified. Thirty eight individuals (76%) fulfilled clinical criteria for definite Marfan syndrome and twelve individuals (24%) were incomplete Marfan syndrome. The majority of those individuals had significant organ involvement including dilatation of ascending aorta (78%), ectopia lentis (54%), and skeletal involvement (96%). CONCLUSIONS: In summary, this is the first report of clinical manifestation and echocardiographic findings of Thai patients with Marfan syndrome.