A 72 year old woman presented for a total knee replacement, but a cardiology consult was requested when she was found to have an abnormal ECG preoperatively. The ECG (panel) demonstrated sinus rhythm, a short PR interval, left axis deviation and right bundle branch block, as well as widespread T wave inversion.
Closer questioning revealed that the patient's brother had died from complications of Fabry's disease, and that she was a known carrier. Subsequent echocardiography, Holter monitoring and coronary angiography were all normal and the patient underwent surgery with no cardiovascular complications.
Females who are heterozygous for the gene coding for α‐galactosidase A, an enzyme involved in the biodegradation of glycosphingolipids, can display the ECG changes seen here. Left ventricular hypertrophy can also occasionally be seen, but is less common than in male Fabry's patients. As in this case, the ECG changes present in female carriers of the disease are almost always asymptomatic and are picked up incidentally. The more serious non‐cardiac consequences of Fabry's disease, such as cerebrovascular accidents and renal failure, occur in only 1% of female carriers.