Echocardiographic evaluation in subjects with 1-Antitrypsin deficiency

Background(1)-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. Materials and methodsTo 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. ResultsCompared to controls, AATD subjects showed increased left ventricular mass (16059g vs. 121 +/- 70g, P<0001), a higher incidence of left and right ventricular diastolic dysfunction (30% vs. 16%, P<0001 and 45% vs. 20%, P<0001, respectively) and mitral valve prolapse (35% vs. 6%, P<0001). 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. ConclusionsIn 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.