Valvular heart disease frequently occurs as a consequence of premature atherosclerosis in individuals with familial hypercholesterolemia (FH). Studies have primarily focused on aortic valve calcification in heterozygous FH, but there is paucity of data on the incidence of valvular disease in homozygous FH. We performed echocardiographic studies in 33 relatively young patients (mean age: 26 years) with homozygous FH (mean LDL of 447 mg/dL, 73% on LDL apheresis) to look for subclinical valvulopathy. Twenty-one patients had evidence of valvulopathy of the aortic or mitral valves, while seven subjects showed notable mitral regurgitation. Older patients were more likely to have aortic valve calcification (>21 versus ≤21 years: 59% versus 12.5%; p = 0.01) despite lower LDL levels at the time of the study (385 versus 513 mg/dL; p = 0.016). Patients with valvulopathy were older and had comparable LDL levels and a lower carotid intima-media thickness. Our data suggests that, in homozygous FH patients, valvulopathy (1) is present across a wide age spectrum and LDL levels and (2) is less likely to be influenced by lipid-lowering treatment. Echocardiographic studies that focused on aortic root thickening and stenosis and regurgitation are thus likely an effective modality for serial follow-up of subclinical valvular heart disease.
展开▼
机译：患有家族性高胆固醇血症（FH）的人由于动脉粥样硬化而早发瓣膜性心脏病。研究主要集中在杂合子FH中的主动脉瓣钙化，但是关于纯合子FH中瓣膜疾病发生率的数据很少。我们对33名相对纯合的FH（平均LDL为447μmg/ dL，LDL血液分离术的73％）的年轻患者（平均年龄：26岁）进行了超声心动图研究，以寻找亚临床瓣膜病。 21名患者有主动脉瓣或二尖瓣瓣膜病变的证据，而7名受试者表现出明显的二尖瓣反流。尽管研究时的低密度脂蛋白水平较低，但老年患者更可能发生主动脉瓣钙化（> 21岁对小于等于21岁：59％对12.5％； p = 0.01）（385对513 mg / dL； p = 0.016）。 。瓣膜病患者年龄较大，LDL水平相当，颈动脉内膜中层厚度较低。我们的数据表明，在纯合子FH患者中，瓣膜病（1）跨年龄段和LDL水平存在，（2）降脂治疗的可能性较小。因此，针对主动脉根部增厚，狭窄和反流的超声心动图研究可能是亚临床瓣膜性心脏病系列随访的有效方式。
展开▼
