Aortic stiffness in young patients with heterozygous familial hypercholesterolemia

the presence of intact vessel structure as defined by aortography, transthoracic or transesophageal echocardiography, magnetic resonance imaging, or other imaging techniques.1 Familial hypercholesterolemia (FH) is a specific dominantly inherited disorder. In the heterozygous form it is quite common (1:500 in the general population), is usually severe (cholesterol 8 to 12 mmol/L [310 to 460 mg/dl] in adults), and is an important cause of premature coronary heart disease (CHD) even in the absence of smoking, hypertension, or diabetes mellitus.2-4 Aortic and arterial atheroma occur in a widespread manner in subjects with CHD, and this affects aortic and arterial properties, leading to a reduction in distensibility. Atheromatous changes may vary from overt atheroma to any of the less advanced lesions such as intimal thickening, increased collagen deposition, and foam-cell infiltration. Furthermore the changes are usually not confined to one part of the vascular tree. On the other hand, hypercholesterolemia per se may have effects on the aortic and arterial properties, although conflicting opinions about the direction of aortic distensibility changes in this setting have been expressed.5-8 In this study we combined aortic root internal diameter measurements obtained by two-dimensional guided Mmode transthoracic echocardiography with simultaneous sphygmomanometric measurements of the arterial pressure at the brachial artery to assess aortic root function indexes. We thus tested the hypothesis that FH with no manifest arterial disease may be associated with aortic stiffening independent of age and blood pressure.