AI Article Synopsis
- Anderson-Fabry disease (AFD) is caused by a lack of enzyme activity that leads to the buildup of substances in the body's cells, leading to serious cardiovascular issues, especially hypertrophic cardiomyopathy (HCM).
- This report presents three new cases of obstructive HCM in patients with AFD, where the condition was only diagnosed after surgery through genetic and morphological tests.
- The findings suggest that surgical myectomy can be safe and effective for AFD-related HOCM, highlighting the importance of better screening for AFD symptoms in HOCM patients.
Article Abstract
Anderson-Fabry disease (AFD) results from decreased enzyme activity of lysosomal enzymes and intralysosomal storage of nonhydrolyzed forms. Cardiovascular complications, mainly in the form of HCM, contribute substantially to AFD patient mortality. Here, we report three new cases of obstructive HCM (HOCM) in nonclassical presentations of AFD and isolated cardiac involvement. In all three cases, the diagnosis of AFD was made postoperatively by routine genetic and morphological testing. Together with previously published cases, this report illustrates the potential safety and beneficial effect of septal surgical myectomy in patients with AFD-HOCM, as well as underlines the need for more thorough screening for clinical signs of AFD-associated cardiomyopathy and variants among patients with HOCM.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11432192 | PMC |
| http://dx.doi.org/10.3390/jcdd11090293 | DOI Listing |
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