title: Echocardiographic evaluation in subjects with α1-Antitrypsin deficiency.
abstract: BACKGROUND
  α1-Antitrypsin (AAT) deficiency (AATD) is a genetic condition associated with early-onset panacinar emphysema and, less often, vascular disease. Recently, abnormal elastic properties of ascending aortic wall were described in ZZ genotype AATD subjects who incidentally showed an increased left ventricular mass.
  
  
  METHODS
  To evaluate biventricular dimensions, valvular apparatus, systolic and diastolic function, 33 AATD subjects with ZZ genotype and 33 healthy subjects matched for age and sex underwent a complete echocardiographic assessment.
  
  
  RESULTS
  Compared to controls, AATD subjects showed increased left ventricular mass (160 ± 59 g vs. 121 ± 70 g, P < 0.001), a higher incidence of left and right ventricular diastolic dysfunction (30% vs. 16%, P < 0.001 and 45% vs. 20%, P < 0.001, respectively) and mitral valve prolapse (35% vs. 6%, P < 0.001). In contrast, there was no difference between the two groups in diameters and systolic function of both ventricles and in the ejection fraction of left ventricle. The functions of aortic and tricuspidal valves were also similar.
  
  
  CONCLUSIONS
  In the presence of greater left ventricular mass, a significantly higher incidence of left and right ventricular diastolic dysfunction and mitral valve prolapse occurs in AATD subjects (ZZ genotype). These findings strongly suggest an abnormal remodelling process in cardiac tissue in AATD.
authors.affiliation: Cardiology Chair, University of Brescia, Brescia, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Vizzardi
authors.affiliation: First Division of Internal Medicine, Spedali Civili, Brescia, Italy.
authors.forename: Luciano
authors.initials: L
authors.lastname: Corda
authors.affiliation: Cardiology Chair, University of Brescia, Brescia, Italy.
authors.forename: Edoardo
authors.initials: E
authors.lastname: Sciatti
authors.affiliation: Respiratory System Diseases Chair, University of Brescia, Brescia, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Roca
authors.affiliation: Respiratory System Diseases Chair, University of Brescia, Brescia, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Redolfi
authors.affiliation: Respiratory System Diseases Chair, University of Brescia, Brescia, Italy.
authors.forename: Marianna
authors.initials: M
authors.lastname: Arici
authors.affiliation: Respiratory System Diseases Chair, University of Brescia, Brescia, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Pini
authors.affiliation: Cardiology Chair, University of Brescia, Brescia, Italy.
authors.forename: Ivano
authors.initials: I
authors.lastname: Bonadei
authors.affiliation: Cardiology Chair, University of Brescia, Brescia, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Metra
authors.affiliation: Respiratory System Diseases Chair, University of Brescia, Brescia, Italy.
authors.forename: Claudio
authors.initials: C
authors.lastname: Tantucci
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D003971:Diastole; D004452:Echocardiography; D005260:Female; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000000981:diagnostic imaging* / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D008945:Mitral Valve Prolapse / Q000000981:diagnostic imaging* / Q000453:epidemiology; D013318:Stroke Volume; D013599:Systole; D018487:Ventricular Dysfunction, Left / Q000000981:diagnostic imaging* / Q000453:epidemiology; D018497:Ventricular Dysfunction, Right / Q000000981:diagnostic imaging* / Q000453:epidemiology; D019896:alpha 1-Antitrypsin Deficiency / Q000000981:diagnostic imaging* / Q000453:epidemiology
keywords: Cardiac remodelling; diastolic dysfunction; echocardiography; mitral valve prolapse; α1-Antitrypsin deficiency