title: Characterization of cardiovascular involvement in pseudoxanthoma elasticum families.
abstract: OBJECTIVE
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors: 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.).
authors: Laurence
authors: L
authors: Campens
authors: Olivier M
authors: OM
authors: Vanakker
authors: Bram
authors: B
authors: Trachet
authors: Patrick
authors: P
authors: Segers
authors: Bart P
authors: BP
authors: Leroy
authors: Julie
authors: J
authors: De Zaeytijd
authors: Dirk
authors: D
authors: Voet
authors: Anne
authors: A
authors: De Paepe
authors: Tine
authors: T
authors: De Backer
authors: Julie
authors: J
authors: De Backer
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001018:Aortic Diseases / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000235:genetics; D050197:Atherosclerosis / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics; D058729:Peripheral Arterial Disease / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000235:genetics; D010641:Phenotype; D015995:Prevalence; D011561:Pseudoxanthoma Elasticum / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000235:genetics; D014463:Ultrasonography; D018487:Ventricular Dysfunction, Left / Q000000981:diagnostic imaging / Q000453:epidemiology* / Q000235:genetics; D055815:Young Adult
chemical_list: D027425:ATP-Binding Cassette, Sub-Family C Proteins; C102029:ABCC6 protein, human
keywords: atherosclerosis; carotid intima-media thickness; pseudoxanthoma elasticum; vascular stiffness; ventricular function