title: Left ventricular function in a large cohort of pseudoxanthoma elasticum patients.
abstract: OBJECTIVE
  Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder characterized by the mineralization and fragmentation of elastic fibers in the skin, retina, and vascular walls. While there is no doubt that peripheral arterial disease is associated with PXE, several other cardiac complications have been linked with PXE, mainly based on case reports. It remains unclear, whether cardiac systolic or diastolic function impairment is a common complication of PXE.
  
  
  METHODS
  This study conducted systematic assessment of left ventricular systolic and diastolic function via standard echocardiography and two-dimensional strain imaging, in a large cohort of asymptomatic PXE patients (n = 75) and matched healthy controls (n = 30).
  
  
  RESULTS
  PXE and controls did not differ in terms of any of the diastolic parameters tested: E-wave (82 ± 17 cm/s vs. 82 ± 13 cm/s, p = 0.890), E deceleration time (191.7 ± 55.6 ms vs. 190.0 ± 35.9 ms, p = 0.879), and E/Em ratio (7.1 ± 2.3 vs. 7.0 ± 1.8, p = 0.829). In addition, no significant differences were observed between PXE and control in terms of left ventricular volumes and ejection fraction, as well as global, basal, mid, and apex longitudinal strains.
  
  
  CONCLUSIONS
  These findings revealed that preclinical cardiac dysfunction is uncommon in a large population of asymptomatic PXE patients.
authors.affiliation: L'UNAM Université, Angers, France; Université Angers, Laboratoire Cardioprotection, Remodelage et Thrombose, CHU Angers, Service de Cardiologie, Angers, France.
authors.forename: Loïc
authors.initials: L
authors.lastname: Bière
authors.affiliation: Service de Cardiologie et CIC-IT 804, CHU de Rennes & Laboratoire Traitement du Signal et de l'Image, INSERM U1099, Rennes, France.
authors.forename: Erwan
authors.initials: E
authors.lastname: Donal
authors.affiliation: L'UNAM Université, Angers, France; Université Angers, Laboratoire Cardioprotection, Remodelage et Thrombose, CHU Angers, Service de Cardiologie, Angers, France.
authors.forename: Gwenola
authors.initials: G
authors.lastname: Terrien
authors.affiliation: L'UNAM Université, Angers, France; Université Angers, Laboratoire Cardioprotection, Remodelage et Thrombose, CHU Angers, Service de Cardiologie, Angers, France; CHU Angers, Centre de consultation PXE, Angers, France.
authors.forename: Alain
authors.initials: A
authors.lastname: Furber
authors.affiliation: L'UNAM Université, Angers, France; CHU Angers, Centre de consultation PXE, Angers, France; Université Angers, Biologie Neurovasculaire et Mitochondriale Intégrée, UMR INSERM-1083 CNRS-6214, Angers, France.
authors.forename: Ludovic
authors.initials: L
authors.lastname: Martin
authors.affiliation: L'UNAM Université, Angers, France; Université Angers, Laboratoire Cardioprotection, Remodelage et Thrombose, CHU Angers, Service de Cardiologie, Angers, France; CHU Angers, Centre de consultation PXE, Angers, France.
authors.forename: Fabrice
authors.initials: F
authors.lastname: Prunier
mesh_terms: D015331:Cohort Studies; D003971:Diastole; D004452:Echocardiography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011561:Pseudoxanthoma Elasticum / Q000000981:diagnostic imaging / Q000503:physiopathology*; D013599:Systole; D016277:Ventricular Function, Left