Abstract
AimTo investigate the contribution of unaffected cardiomyocytes in Fabry disease cardiomyopathy.FindingsLeft ventricular (LV) endomyocardial biopsies from twenty-four females (mean age 53 ± 11 ys) with Fabry disease cardiomyopathy were studied. Diagnosis of FD was based on the presence of pathogenic GLA mutation, Patients were divided in four groups according with LV maximal wall thickness (MWT): group 1 MWT ≤ 10.5 mm, group 2 MWT 10.5–15 mm, group 3 MWT 16–20 mm, group 4 MWT > 20 mm. At histology mosaic of affected and unaffected cardiomyocytes was documented. Unaffected myocytes’ size ranged from normal to severe hypertrophy. Hypertrophy of unaffected cardiomyocytes correlated with severity of MWT (p < 0.0001, Sperman r 0,95). Hypertrophy of unaffected myocytes appear to concur to progression and severity of FDCM. It is likely a paracrine role from neighboring affected myocytes.
Highlights
We investigated the possible contribute of unaffected cardiomyocytes to severity of FDCM in female patients
Diagnosis of FDCM was based on the presence of pathogenic galactosidase A (GLA) mutation in female members of 11 families with different age and severity of cardiac involvement, and accumulation of glycosphyngolipids in the cardiac cells manifesting as myelin bodies at ultrastructural examination of glutaraldehyde-fixed endomyocardial samples
Patients were divided in four groups according with Left ventricular (LV) maximal wall thickness (MWT): group 1 MWT ≤ 10.5 mm, group 2 MWT 10.5–15 mm, group 3
Summary
Full list of author information is available at the end of the article involvement, consisting of progressive left ventricular hypertrophy (LVH), is very common and is the most frequent cause of death. We investigated the possible contribute of unaffected cardiomyocytes to severity of FDCM in female patients. Left ventricular (LV) endomyocardial biopsies from twenty-four females (mean age 53 ± 11 ys) with FDCM were studied.
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
