From the Center for Medical Genetics (L.C., O.M.V., B.P.L., A.D.P., J.D.B.), Department of Cardiology (T.D.B., J.D.B.), Department of Ophthalmology (B.P.L., J.D.Z.), and Department of Internal Medicine (D.V.), Ghent University Hospital, Ghent, Belgium; and Institute of Biomedical Technology, Ghent University, Ghent, Belgium (B.T., P.S.).
Arterioscler Thromb Vasc Biol. 2013 Nov;33(11):2646-52. doi: 10.1161/ATVBAHA.113.301901. Epub 2013 Aug 22.
Pseudoxanthoma elasticum (PXE) is an autosomal recessive connective tissue disorder with involvement of the skin, the retina, and the cardiovascular system. Cardiovascular involvement is mainly characterized by mineralization and fragmentation of elastic fibers of blood vessels and premature atherosclerosis. We conducted an ultrasound study to investigate the cardiovascular phenotype and to propose recommendations for the management of patients with PXE and heterozygous ABCC6 mutation carriers.
Thirty-two patients, 23 carriers, and 28 healthy volunteers underwent cardiac and vascular ultrasound studies. Cardiac imaging revealed left ventricular diastolic dysfunction in patients with PXE with a significantly prolonged deceleration time and lower septal early diastolic velocities of the mitral annulus compared with controls. Carriers also demonstrated significantly prolonged deceleration time. Carotid-to-femoral pulse wave velocity was significantly increased in patients with PXE when compared with carriers and controls. Vascular imaging revealed a high prevalence of peripheral artery disease in both patients and carriers and a significantly higher carotid intima-media thickness compared with controls.
The results of this study clearly demonstrate impaired left ventricular diastolic function, impairment of the elastic properties of the aorta, and a high prevalence of peripheral artery disease in patients with PXE. Carriers also seem to exhibit a cardiovascular phenotype with mainly mild diastolic dysfunction and accelerated atherosclerosis. Increased awareness for cardiovascular events in both patients and heterozygous carriers is warranted.
弹性假黄瘤（PXE）是一种常染色体隐性结缔组织疾病，涉及皮肤、视网膜和心血管系统。心血管受累的主要特征是血管弹性纤维的矿化和碎裂以及早发动脉粥样硬化。我们进行了一项超声研究，以调查心血管表型，并为 PXE 患者和杂合 ABCC6 突变携带者的管理提出建议。
32 名患者、23 名携带者和 28 名健康志愿者接受了心脏和血管超声检查。心脏成像显示 PXE 患者存在左心室舒张功能障碍，与对照组相比，患者的减速时间明显延长，二尖瓣环间隔早期舒张速度降低。携带者的减速时间也明显延长。与携带者和对照组相比，PXE 患者的颈股脉搏波速度明显增加。血管成像显示，患者和携带者均存在外周动脉疾病的高患病率，且颈动脉内膜中层厚度明显高于对照组。
本研究结果清楚地表明，PXE 患者存在左心室舒张功能障碍、主动脉弹性功能障碍和外周动脉疾病高发。携带者似乎也表现出心血管表型，主要为轻度舒张功能障碍和动脉粥样硬化加速。需要提高对患者和杂合携带者心血管事件的认识。
