Cardiac and skeletal myopathy in Fabry disease: A clinicopathologic correlative study

Cristina Chimenti, Luca Padua, Costanza Pazzaglia, Emanuela Morgante, Carlos Centurion, Daniela Antuzzi, Matteo A. Russo, Andrea Frustaci

Research output: Contribution to journalArticlepeer-review


Skeletal muscle disturbances are commonly reported in patients with Fabry disease. Whether they derive from cardiac dysfunction or direct muscle involvement is still unclear. Clinical, noninvasive, and invasive cardiac and muscle studies, including an endomyocardial and muscle biopsy, were obtained in 12 patients (mean age, 42.1 ± 12.6 years; range, 24-58 years) with Fabry disease. In the youngest patients (group A, 4 men aged 35 years) showed ultrasound muscle disarray and electromyography signs of myopathy, increased left ventricular mass, and normal cardiac function. Histologic examination showed that muscle myocytes contained mild glycosphingolipid accumulation compared with severe engulfment of cardiomyocytes. Moreover, similar infiltration of myocardial and muscle intramural vessels, causing lumen narrowing and fibrofatty tissue replacement, was observed. Direct muscle involvement occurs in patients with Fabry disease. It is milder and delayed compared with that in the heart. The difference in organ function and the need of residual α-galactosidase A activity are the likely causes.

Original languageEnglish
Pages (from-to)1444-1452
Number of pages9
JournalHuman Pathology
Issue number9
Publication statusPublished - Sep 2012


  • Cardiomyopathy
  • Fabry disease
  • Muscles
  • Pathology

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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