Molecular biology of aortic diseases

ABSTRACT

The elastic property of several tissues is conferred by the elastic fiber, composed of a homogeneous core of elastin surrounded by microfibrils. Defects in these components lead to different genetic diseases with important cardiovascular manifestations in the aorta. Here we will review these genetic disorders associated with pathologies of the aorta, focusing on the molecular defects underlying them, and on how the elucidation of the molecular lesion can lead to a better understanding of disease progression. In particular, we will discuss the recent advances in the molecular basis of supravalvar aortic stenosis, Williams syndrome, Marfan syndrome, and the fibrillinopathies.