Maria Rosaria Magaldi, Luigi Michele Pavone, Emma Acampora, Simona Fecarotta, Giovanni Esposito, Francesca Iacobellis, Marta Rubino, Salvatore Esposito, Paolo Calabrò, Salvatore Cappabianca, Antonietta Tarallo, Emanuele Monda, Marcella Sasso, Martina Caiazza, Maria Paola Belfiore, Roberto Grassi, Valeria De Pasquale, Giancarlo Parenti, Antonio Pisani, Giuseppe Limongelli, Belfiore, M. P., Iacobellis, F., Acampora, E., Caiazza, M., Rubino, M., Monda, E., Magaldi, M. R., Tarallo, A., Sasso, M., De Pasquale, V., Grassi, R., Cappabianca, S., Calabro, P., Fecarotta, S., Esposito, S., Esposito, G., Pisani, A., Pavone, L. M., Parenti, G., Limongelli, G., Belfiore, Maria Paola, Iacobellis, Francesca, Acampora, Emma, Caiazza, Martina, Rubino, Marta, Monda, Emanuele, Magaldi, Maria Rosaria, Tarallo, Antonietta, Sasso, Marcella, De Pasquale, Valeria, Grassi, Roberto, Cappabianca, Salvatore, Calabrò, Paolo, Fecarotta, Simona, Esposito, Salvatore, Esposito, Giovanni, Pisani, Antonio, Pavone, Luigi Michele, Parenti, Giancarlo, and Limongelli, Giuseppe
Introduction Lysosomal storage diseases (LSDs) are rare inherited metabolic diseases characterized by an abnormal accumulation of various toxic materials in the cells as a result of enzyme deficiencies leading to tissue and organ damage. Among clinical manifestations, cardiac diseases are particularly important in Pompe glycogen storage diseases (PD), in glycosphingolipidosis Fabry disease (FD), and mucopolysaccharidoses (MPS). Here, we evaluated the occurrence of aortopathy in knock out (KO) mouse models of three different LSDs, including PD, FD, and MPS IIIB. Methods We measured the aortic diameters in 15 KO male mice, 5 for each LSD: 5 GLA-/- mice for FD, 5 NAGLU-/- mice for MPS IIIB, 5 GAA-/- mice for PD, and 15 wild type (WT) mice: 5 for each strain. In order to compare the aortic parameters between KO and WT mice deriving from the same colonies, different diameters were echocardiographically measured: aortic annulus, aortic sinus, sino-tubular junction, ascending aorta, aortic arch and descending aorta. Storage material content and aortic defects of the KO mice were also analyzed by histology, when available. Results Compared to their correspondent WT mice: GAA-/- mice showed greater diameters of ascending aorta (1.61mm vs. 1.11mm, p-value = 0.01) and descending aorta (1.17mm vs 1.02mm, p-value 0.04); GLA-/- mice showed greater diameters of aortic annulus (1.35mm vs. 1.22mm, p-value = 0.01), sinus of Valsalva (1.6mm vs. 1.38mm, p-value