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Microvascular pathology in Friedreich cardiomyopathy

Arnulf H Koeppen1,2, Jiang Qian2, Alicia M Travis3

  • 1Research Service, Veterans Affairs Medical Center, Albany, New York, USA. arnulf.koeppen@med.va.gov.

Histology and Histopathology
|June 6, 2019
PubMed

Insights

Friedreich

Area of Science:

  • Cardiovascular Pathology
  • Genetics
  • Cell Biology

Background:

  • Heart disease is a significant complication of Friedreich ataxia (FA).
  • FA involves cardiomyocyte hypertrophy, necrosis, inflammation, fibrosis, and disorganized capillaries in the heart.
  • Understanding cardiac pathology in FA is crucial for patient management.

Purpose of the Study:

  • To quantify capillary and cardiomyocyte numbers in Friedreich ataxia (FA) hearts.
  • To investigate the relationship between GAA repeat length and cardiac pathology.
  • To explore the role of endothelial-to-mesenchymal transition in FA cardiac fibrosis.

Main Methods:

  • Immunohistochemistry using CD34 antibody for capillary counting.
  • Analysis of left ventricular wall (LVW) tissue from 41 FA patients and 21 controls.
  • Double-label immunofluorescence for CD34 and S100A4 (fibroblast marker).

Main Results:

  • FA hearts showed significantly fewer cardiomyocytes compared to controls.
  • The ratio of capillaries to cardiomyocytes was higher in FA patients (median 2.0) than controls (median 1.0).
  • Longer GAA repeat expansions correlated with younger onset, shorter duration, lower cardiomyocyte counts, and higher capillary-to-fiber ratios.

Conclusions:

  • Friedreich ataxia (FA) heart disease is characterized by reduced cardiomyocyte numbers and an increased capillary-to-heart fiber ratio.
  • The genetic mutation (GAA repeat length) influences cardiac pathology severity.
  • Endothelial-to-mesenchymal transition contributes to cardiac fibrosis in FA, suggesting primary fibrosis as a key pathogenic mechanism.

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