Abstract
Bardet-Biedl syndrome (BBS) is a genetic autosomal recessive disorder, characterized by abdominal obesity, mental retardation, polydactyly, hypogonadism, retinal pigmentary retinopathy, and renal constitutional abnormalities or functional impairment. In syndromic cases with obesity such as BBS, possibility of myocardial infarction and thromboembolic events at early ages should be considered. In this study, polymorphisms on cardiovascular disease susceptibility genes were investigated in two Bardet-Biedl cases. In both cases, polymorphisms were detected on Factor V, Factor XIII, methylenetetrahydrofolate reductase (MTHRF), Plasminogen activator inhibitor-1 (PAI-1) (4G/5G), Glycoprotein IIIa receptor (HPA-1), and Apoprotein-E3/3 genes. In conclusion, in syndromic cases, possibility of thromboembolic diseases and myocardial infarction at early ages should be kept in mind. Monitoring and prophylaxis may be life saving for these cases with genetic susceptibility especially during the conditions of dehydration, severe infection, and operation
Keywords: Bardet-Biedl syndrome, Cardiovascular disease, Genetic susceptibility
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