ABSTRACT
A case of Williams' syndrome in a 22 years old man, is described. Clinical data, as well as those of laboratory and of imageneology study, are reported. An electro-anatomical comparison permitted to verify the value of electrocardiographic signs of enlargement of the four heart chambers, due to a mixed overload. It permitted also to establish the value of the signs of the interatrial block, probably due to myocardial atrial fibrosis, and those suggesting hyperkalemia. The electrocardiogram always is very useful because it furnishes certain functional aspects permitting to allow structural inferences, in following subjects with congenital or acquired heart diseases.
Subject(s)
Adult , Humans , Male , Electroencephalography , Williams Syndrome , Williams Syndrome/pathology , Autopsy , Aorta, Abdominal/pathology , Aorta, Thoracic/pathology , Aorta/pathology , Heart Atria/pathology , Heart Ventricles/pathology , Mitral Valve Insufficiency/pathology , Mitral Valve/pathology , Pulmonary Artery/pathology , Williams Syndrome/mortality , Williams SyndromeABSTRACT
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.