Marfan's Syndrome. Relevant Clinical and Molecular Aspects. Knowledge Obtained from the Follow-Up of one Family Throughout Three Consecutive Generations

Abstract
Marfan's syndrome (MS) is an inherited, autosomal dominant disorder of connective tissue affecting primarily the eyes, and the musculoskeletal and cardiovascular systems. Cardiovascular complications are the primary cause of morbility and mortality. SM is caused by mutation in the fibrillin 1 (FBN1) gene, though other important disease factors are currently emerging. Attempts to establish genotype-phenotype correlations have been difficult due to the wide range of clinical manifestations of this illness. The familial approach is particularly useful because it allows to define the variability range and to exclude allelic conditions, provided a long enough follow-up is conducted. Studies on the molecular basis of MS allowed a better diagnosis, a more precise prognosis and potentially more effective therapeutic interventions, as well as a better genetic counseling.

Key words
Marfan syndrome, genetic, clinical aspects

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