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Isolation and Functional Characterization of Human Ventricular Cardiomyocytes from Fresh Surgical Samples
Published on: April 21, 2014
Septal Myectomy in Patients with Hypertrophic Cardiomyopathy and Nonclassical Anderson-Fabry Disease
Alexandr Gurschenkov1, Sofiya Andreeva2, Vadim Zaitsev1
1Institute of Cardiovascular Science, Almazov National Medical Research Centre, 197341 Saint Petersburg, Russia.
Insights
Anderson-Fabry disease (AFD) can cause obstructive hypertrophic cardiomyopathy (HOCM). Early screening for AFD in HOCM patients is crucial for timely diagnosis and effective treatment, potentially improving outcomes.
Area of Science:
- Genetics
- Cardiology
- Metabolic Disorders
Background:
- Anderson-Fabry disease (AFD) is a genetic disorder caused by deficient lysosomal enzyme activity, leading to cellular buildup.
- Cardiovascular complications, particularly hypertrophic cardiomyopathy (HCM), are a major cause of mortality in AFD patients.
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 GLA variants among patients with HOCM.
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