Cardiac symptoms are common in both males and females.1 Cardiovascular disease is one of the most frequent causes of death in patients with Fabry disease.2

Common cardiac defects include:1,3

  • Left ventricular hypertrophy
  • Ischaemia
  • Enlarged left atrium
  • Heart valve abnormalities
  • Conduction disturbances and arrhythmias

Common cardiac-related Fabry disease manifestations

common fabry disease cardiac symptoms and manifestations image

Heart (chest pain):5

males, 13%; females, 14%

Left ventricular hypertrophy:2

males, ~67%; females, ~48%


males, 42%; females, 27%

Valvular abnormalities:9

males, ~9%; females, ~7%

These defects cause dyspnoea, angina, palpitations and syncope.1 Cardiac abnormalities may be observed in children; the earliest manifestation of abnormal cardiac rhythm is bradycardia; in male children (as young as 12 years), a reduction in heart rate variability has also been observed.4,5 A recent study reported that cardiac arrhythmias were observed in males (but not females) of less than 18 years of age and recommended the routine performance of cardiac evaluation in teenage (and older) patients with Fabry disease.5,6 Cardiac abnormalities in Fabry disease are associated with the accumulation of Gb3 and other glycosphingolipids in the tissues, particularly in the endothelium and media of small blood vessels, the cardiac muscle and conducting fibres.7 Gb3 storage induces progressive lysosomal and cellular malfunctioning that subsequently activates common signalling pathways, leading to hypertrophy, apoptosis, necrosis and cardiac fibrosis. The degree of fibrosis in Fabry disease varies depending on the stage of disease.1 Left ventricular hypertrophy (LVH) is the predominant finding from echocardiograms and magnetic resonance imaging;1,8 LVH is progressive and typically occurs earlier in males than in females.1,8 Cardiovascular abnormalities make a substantial contribution to disease-related morbidity and mortality in males and may be the major cause of premature death.9

Screening for Fabry disease should be performed in all cardiac patients above the age of 30 years with a confirmed diagnosis of hypertrophic cardiomyopathy or unexplained LVH of 13 mm or more.10


Hypertrophic cardiomyopathy:Hypertrophic cardiomyopathy is defined by the presence of increased left ventricular wall thickness that is not solely explained by abnormal loading conditions

Please download this leaflet for further information on the causes of hypertrophic cardiomyopathy

Download brochure: Causes of hypertrophic cardiomyopathy

Sign up to receive more information about Anderson-Fabry Disease

First Name
Last Name

With your permission, Shire would like to contact you by electronic means (such as email or SMS) with information about products and services that we feel may be of interest to you. You have the right to opt out of receiving such electronic communications, at any time, by contacting us. Depending on the country you reside in, Shire may be required by law to obtain your consent in order to be able to send such electronic communications to you.

I consent to be contacted by Shire by electronic means with information about Shire's products and services.
We encourage you to read our privacy policy.

Start typing and press Enter to search