Study of the role of genetic variation in the phenotypic variability and response to treatment in patients with Marfan Syndrome

Marfan syndrome is an autosomal dominant disease characterized by multisystemic involvement including ectopia lentis, skeletal overgrowth and aortic root dilatation. Althought the genetic basis for the disease has been identified as the FBN1 gene, the molecular basis for its wide inter- and intrafamilial variability has not been identified. This study studies the influence of single nucleotide polymophisms in the genes encoding in this variability. It also addresses the role of SNPs in the rennin-agniotensin pathway in the patients response to treatment with losartan.