Echocardiographic evaluation in subjects with α1‐Antitrypsin deficiency. (8th August 2015)

• Record Type: Journal Article
• Authors: Vizzardi, Enrico; Corda, Luciano; Sciatti, Edoardo; Roca, Elisa; Redolfi, Stefania; Arici, Marianna; Pini, Laura; Bonadei, Ivano; Metra, Marco; Tantucci, Claudio
• Is Part Of: European journal of clinical investigation. Volume 45:Number 9(2015:Sep.)
• Page Start: 949
• Page End: 954
• Publication Date: 2015-08-08
• Subjects: Pathology -- Periodicals; Medical research -- Periodicals; 616.075
• DOI: 10.1111/eci.12492
• Languages: English
• ISSNs: 0014-2972

Abstract

<abstract abstract-type="main" id="eci12492-abs-0001"> <title>Abstract</title> <sec id="eci12492-sec-0001" sec-type="section"> <title>Background</title> <p>α<sub>1</sub>‐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.</p> </sec> <sec id="eci12492-sec-0002" sec-type="section"> <title>Materials and methods</title> <p>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.</p> </sec> <sec id="eci12492-sec-0003" sec-type="section"> <title>Results</title> <p>Compared to controls, AATD subjects showed increased left ventricular mass (160 ± 59 g vs. 121 ± 70 g, <italic>P</italic> < 0·001), a higher incidence of left and right ventricular diastolic dysfunction (30% vs. 16%, <italic>P</italic> < 0·001 and 45% vs. 20%, <italic>P</italic> < 0·001, respectively) and mitral valve prolapse (35% vs. 6%, <italic>P</italic> < 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.</p> </sec> <sec id="eci12492-sec-0004" sec-type="section"> <title>Conclusions</title> <p>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.</p> </sec> </abstract>