Echocardiographic evaluation in subjects with α₁‐Antitrypsin deficiency

Abstract

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.

Research update for articles published in EJCI in 2015

“…X [29] 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…”

“…We recently studied patients affected by a1-antitrypsin (AAT) deficiency by echocardiography: we found a consistent presence of left and RV diastolic dysfunction [29], mitral valve prolapse [29] and stiffened aortas [30], and we reported a case of idiopathic left ventricular pseudoaneurysm [31]. We hypothesized that cardiovascular involvement with abnormal remodelling is related to chronic inflammation.…”

“…Echocardiographic evaluation in subjects with a1-antitrypsin deficiency [29] (Edoardo Sciatti and Enrico Vizzardi)…”

“…X [29] 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 a1antitrypsin deficiency (AATD) subjects (ZZ genotype). These findings strongly suggest an abnormal remodeling process in cardiac tissue in AATD.…”

Z-alpha1-antitrypsin polymers and small airways disease: a new paradigm in alfa-1 anti-trypsin deficiency-related COPD development?

“…It is due to a genetic alteration on the gene Serpine1 on chromosome 14, resulting in a nonfunctional protein production (2)(3)(4)(5)(6). Decreased levels of alpha1-antitrypsin (AAT) in the bloodstream are associated typically with panlobular emphysema (7) and liver disease, including hepatocellular carcinoma and liver cirrhosis (8,9) but also with bronchial asthma and vascular diseases (10)(11)(12).…”