Clinical Presentation and Echocardiographic Findings of Thai Patients with Marfan Syndrome
Manop Pithukpakorn MD*, Nithima Chaowalit MD**
Affiliation : *Division of Medical Genetics, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand **Division of Cardiology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
Objective : Marfan syndrome is an inherited disorder with systemic connective tissue involvement. The condi-
tion 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 syn-
drome. 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
Keywords : Aortic dilatation, Aortic regurgitation, Ectopia lentis, Lens, Subluxation
