Hypertrophy of unaffected cardiomyocytes correlates with severity of cardiomyopathy in female patients with Fabry disease

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Abstract

Aim: To investigate the contribution of unaffected cardiomyocytes in Fabry disease cardiomyopathy. Findings: Left 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.

Original languageEnglish
Article number169
JournalOrphanet Journal of Rare Diseases
Volume16
Issue number1
DOIs
Publication statusPublished - Dec 2021

Keywords

  • Endomyocardial biopsies
  • Fabry Disease
  • Gene mutation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pharmacology (medical)

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