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Fabry disease cardiomyopathy: A practical guide for cardiologists

Tala Al Saleh1, Yusuf Kamran Qadeer2, Bing Yue3

  • 1Department of Internal Medicine, Henry Ford Hospital, Detroit, MI, USA.

Current Problems in Cardiology
|January 16, 2026
PubMed

Insights

Fabry disease (FD), a rare genetic disorder, causes harmful glycosphingolipid buildup. Early detection via advanced imaging aids timely treatment, improving outcomes for affected individuals and families.

Area of Science:

  • Genetics
  • Biochemistry
  • Medical Diagnostics

Background:

  • Fabry disease (FD) is an X-linked lysosomal storage disorder.
  • It involves glycosphingolipid accumulation, primarily globotriaosylceramide (Gb3), in cells.
  • Cardiac, nervous, and renal tissues are most affected, with heart issues being a leading cause of mortality.

Purpose of the Study:

  • To highlight the diagnostic challenges of Fabry disease.
  • To emphasize the role of advanced imaging in early detection.
  • To discuss the implications for treatment initiation and family screening.

Main Methods:

  • Review of Fabry disease pathophysiology and clinical presentation.
  • Discussion of diagnostic advancements, focusing on echocardiography and MRI.
  • Analysis of the impact of early diagnosis on treatment eligibility.

Main Results:

  • Fabry disease is often misdiagnosed due to rarity and varied symptoms, particularly in women.
  • Echocardiography and MRI are crucial for identifying early cardiac involvement (Fabry cardiomyopathy).
  • Early identification of end-organ damage enables treatment for patients ineligible for advanced therapies and asymptomatic family members.

Conclusions:

  • Advanced imaging techniques are vital for early Fabry disease diagnosis and management.
  • Timely diagnosis facilitates treatment initiation, potentially altering disease progression.
  • Screening and early detection are critical for managing Fabry disease in affected families.

Keywords:
CardiomyopathyFabry Disease CardiomyopathyFabry disease

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