Isolated cardiac manifestations in Fabry disease: the UK experience.

UNLABELLED: Cardiac abnormalities are common in patients with Fabry disease, and may be the only clinical manifestation of the disease in some patients. At St George's Hospital Medical School, a national referral centre for hypertrophic cardiomyopathy in the UK, a study of 153 consecutively referred male patients revealed that 4% had Fabry disease. This increased to 6% in patients over 40 years of age. All these patients had electrocardiographic (ECG) abnormalities, most of which were consistent with those found in patients with classic Fabry disease: left ventricular hypertrophy, repolarization abnormalities and a prolonged QRS complex. A study of heterozygote females with Fabry disease also showed ECG and echocardiographic abnormalities in most patients.

CONCLUSIONS

Fabry disease should be considered in the differential diagnosis of otherwise unexplained cardiac disease.