How Cardiologists Can Help

Cardiologists can play a critical role in the detection of Fabry disease. Patients with Fabry disease often present with unexplained premature cardiac disease. By recognizing the early signs and symptoms, cardiologists have the opportunity to identify Fabry disease earlier in the disease course, and to initiate appropriate disease management.

Left ventricular hypertrophy

Progressive GL-3 accumulation in myocardial cells may lead to significant enlargement of the heart, particularly the left ventricle.1, 2

50-year-old Fabry disease patient

 Image shoes gross appearance of the heart (cut surface) from a 50-year-old Fabry disease patient with arrows denoting the markedly thick myocardium.

Gross appearance of the heart (cut surface) from a 50-year-old Fabry disease patient. Note markedly thickened myocardium. Used with permission from R.J. Desnick, MD, Phd.

Additional cardiac findings

In addition to left ventricular hypertrophy, patients with Fabry disease may present with:

  • Mitral valve prolapse and/or regurgitation
  • Premature coronary artery disease
  • Angina
  • Myocardial infarction
  • PR interval shortening
  • Conduction abnormalities, arrhythmias
  • Family history of cardiac disease

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Other clinical manifestations

Patients with Fabry disease may present with comorbidities such as:

  • Progressive and/or unexplained chronic kidney disease. Learn more
  • Corneal and lenticular abnormalities (seen through slit lamp; generally does not affect vision). Learn more
  • Premature stroke. Learn more
  • “Burning” pain in the hands and feet. Learn more
  • Heat/cold and exercise intolerance. Learn more
  • Impaired sweating. Learn more


1. Linhart A, JC Lubanda, T Palecek, et al. Cardiac manifestations in Fabry disease. J Inherit Metab Dis. 2001;24 Suppl 2:75-83; discussion 65.

2. Desnick RJ, YA Ioannou, CM Eng. α-galactosidase A deficiency: Fabry disease. In: The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill, 2001: 3733-3774.