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The role of genetic testing in diagnosing Fabry's disease and its overlapping with cardiomyopathies: a case series.

Mustafa SuppahHema NarayanasamyJames NelsonSaid Alsidawi
Published in: European heart journal. Case reports (2024)
Fabry's disease poses diagnostic challenges due to its resemblance to HCM. Genetic testing enables precise diagnosis and personalized management, especially in cases with atypical presentations. Early recognition and intervention, facilitated by genetic testing, can improve patient outcomes in Fabry's disease.
Keyphrases
  • hypertrophic cardiomyopathy
  • replacement therapy
  • randomized controlled trial
  • heart failure
  • left ventricular