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Characterization of cardiovascular involvement in pseudoxanthoma elasticum families

Laurence Campens (UGent) , Olivier Vanakker (UGent) , Bram Trachet (UGent) , Patrick Segers (UGent) , Bart Leroy (UGent) , Julie De Zaeytijd (UGent) , Dirk Voet (UGent) , Anne De Paepe (UGent) , Tine De Backer (UGent) and Julie De Backer (UGent)
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Organization
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. Approach and 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.
Keywords
MOLECULAR-GENETICS, TASK-FORCE, PUTATIVE PATHOMECHANISMS, ABCC6 GENE, CORONARY-ARTERY-DISEASE, EUROPEAN-SOCIETY, CAROTID-ARTERY, MUTATION, GUIDELINES, atherosclerosis, carotid intima-media thickness, ventricular function, DIASTOLIC DYSFUNCTION, pseudoxanthoma elasticum, vascular stiffness

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MLA
Campens, Laurence, et al. “Characterization of Cardiovascular Involvement in Pseudoxanthoma Elasticum Families.” ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, vol. 33, no. 11, 2013, pp. 2646–52, doi:10.1161/​ATVBAHA.113.301901.
APA
Campens, L., Vanakker, O., Trachet, B., Segers, P., Leroy, B., De Zaeytijd, J., … De Backer, J. (2013). Characterization of cardiovascular involvement in pseudoxanthoma elasticum families. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 33(11), 2646–2652. https://doi.org/10.1161/​ATVBAHA.113.301901
Chicago author-date
Campens, Laurence, Olivier Vanakker, Bram Trachet, Patrick Segers, Bart Leroy, Julie De Zaeytijd, Dirk Voet, Anne De Paepe, Tine De Backer, and Julie De Backer. 2013. “Characterization of Cardiovascular Involvement in Pseudoxanthoma Elasticum Families.” ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY 33 (11): 2646–52. https://doi.org/10.1161/​ATVBAHA.113.301901.
Chicago author-date (all authors)
Campens, Laurence, Olivier Vanakker, Bram Trachet, Patrick Segers, Bart Leroy, Julie De Zaeytijd, Dirk Voet, Anne De Paepe, Tine De Backer, and Julie De Backer. 2013. “Characterization of Cardiovascular Involvement in Pseudoxanthoma Elasticum Families.” ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY 33 (11): 2646–2652. doi:10.1161/​ATVBAHA.113.301901.
Vancouver
1.
Campens L, Vanakker O, Trachet B, Segers P, Leroy B, De Zaeytijd J, et al. Characterization of cardiovascular involvement in pseudoxanthoma elasticum families. ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY. 2013;33(11):2646–52.
IEEE
[1]
L. Campens et al., “Characterization of cardiovascular involvement in pseudoxanthoma elasticum families,” ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, vol. 33, no. 11, pp. 2646–2652, 2013.
@article{4128534,
  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. Approach and 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.}},
  author       = {{Campens, Laurence and Vanakker, Olivier and Trachet, Bram and Segers, Patrick and Leroy, Bart and De Zaeytijd, Julie and Voet, Dirk and De Paepe, Anne and De Backer, Tine and De Backer, Julie}},
  issn         = {{1079-5642}},
  journal      = {{ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY}},
  keywords     = {{MOLECULAR-GENETICS,TASK-FORCE,PUTATIVE PATHOMECHANISMS,ABCC6 GENE,CORONARY-ARTERY-DISEASE,EUROPEAN-SOCIETY,CAROTID-ARTERY,MUTATION,GUIDELINES,atherosclerosis,carotid intima-media thickness,ventricular function,DIASTOLIC DYSFUNCTION,pseudoxanthoma elasticum,vascular stiffness}},
  language     = {{eng}},
  number       = {{11}},
  pages        = {{2646--2652}},
  title        = {{Characterization of cardiovascular involvement in pseudoxanthoma elasticum families}},
  url          = {{http://doi.org/10.1161/​ATVBAHA.113.301901}},
  volume       = {{33}},
  year         = {{2013}},
}

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