Cardiac disease is the most common cause of death in patients with Fabry disease.1 Unexplained cardiac manifestations could indicate Fabry disease. The prevalence of Fabry disease in patients with left ventricular hypertrophy (LVH) or hypertrophic cardiomyopathy (HCM) is estimated to be at least 1 in 100.2–4

49% of males and 35% of females with the disease were found to have had a cardiac event by an average age of 36 and 44, respectively—although it is important to note that cardiac events may appear as early as the teen years.5

Cardiac signs and symptoms in Fabry disease6

  • Left ventricular hypertrophy (LVH)
  • Arrhythmia
  • Angina
  • Dyspnoea

Cardiac hypertrophy, fibrosis, and conduction abnormalities can be caused by GL-3 accumulation in cellular components of the heart, adversely affecting cardiac structure and function. Other cardiac manifestations may include: Electrocardiogram (ECG) abnormalities, short PR intervals, atrioventricular block (AV block), repolarisation abnormalities, ST-T changes, and/or arrhythmias.7 Persistent accumulation of GL-3 in cardiomyocytes over time may lead to LVH, ultimately resulting in heart failure.8

Cardiac manifestations over time5,9-13

    1. Waldek S, et al. BMC Nephrol. 2014:15(72):1–15.
    2. Linthorst GE, et al. J Med Genet. 2010;47(4):217–222.
    3. Monserrat L, et al. Coll Cardiol. 2007;50(25):2399–403.
    4. van der Tol L, et al. J Med Genet. 2014;51(1):1–9.
    5. Schiffmann R, et al. Nephrol Dial Transplant. 2009.24(7) 2102–2111.
    6. Germain DP. Orphanet J Rare Dis. 2010;5(30):1–49.
    7. Yousef Z, et al. Eur Heart J. 2013;34(11)–802–808.
    8. Eng CM, et al. Genet Med. 2006;8(9):539–548.
    9. Kampmann C, Linhart A, Baehner F, et al. Int J Cardiol. 2008;130(3):367–373.
    10. Linhart A, Magage S, Palecek T, et al. Acta Paediatr Suppl. 2002;91(439):15–20.
    11. Patel MR, Cecchi F, Cizmark M, et al. J Am Coll Cardiol. 2011;57(9):1093–1099.
    12. Shah JS, Hughes DA, Sachdev B, et al. Am J Cardiol. 2005;96(6):842–846.
    13. Waldek S, Patel MR, Banikazemi M, et al. Genet Med. 2009;11(11):790–796.

MAT-XU-2202629 (v1.0)
Date of preparation: August 2022