BACKGROUND: Marfan syndrome is an inherited connective tissue disorder with an 
autosomic dominant transmission. The prevalence is 1:5000-10 000 and the 
clinical major criteria involve the skeletal and ocular apparatus and the 
cardiovascular and central nervous system. The main cause of morbidity is 
represented by the thoracic aortic dissection/aneurysm that is responsible for 
80% of the deaths.
METHODS: We performed a clinical study on 227 patients enrolled at our Clinical 
and Research Marfan and Related Disorders Center. The aim of this study was to 
describe the prevalence of cardiovascular manifestation in this cohort of 
patients.
RESULTS: Aortic dilation was present in 172 patients (75.8%), mitral valve 
prolapse in 179 (78.9%). Aortic insufficiency was present in 83 patients 
(36.6%), mitral insufficiency in 165 (72.7%). When analyzed separately, in < 
10-year and > 40-year patients aortic dilation was more prevalent than mitral 
valve prolapse. Three patients presented with interatrial septal defect, 4 
aortic bicuspid valve; 23 had a history of ventricular and supraventricular 
arrhythmias, and in 2 patients an implantable cardioverter device had been 
implanted. Fifty-seven patients were treated with beta-blockers and 28 had been 
operated for aortic aneurysmal dilation.
CONCLUSIONS: In Marfan syndrome mitral valve prolapse and aortic dilation are 
the main cardiovascular manifestations, interatrial septal defect and aortic 
bicuspid valve had the same prevalence than in subjects without Marfan syndrome. 
These data refer to our first patient evaluation; further studies are needed to 
evaluate the progression and the natural history of cardiovascular 
manifestations in Marfan syndrome.