A patient with Anderson-Fabry disease may develop a cardiomyopathy due to accumulation of globotriaosylceramide and other neutral glycosphingolipids within the heart.


Inheritance: X-linked

Gene affected: GLA on Xq22.1

Enzyme affected: alpha-galactosidase A


Features of the cardiomyopathy:

(1) left ventricular hypertrophy (usually concentric, occasionally asymmetric)

(2) variable right ventricular hypertrophy

(3) repolarization abnormalities

(4) left ventricular systolic and diastolic dysfunction

(5) associated with dyspnea, angina, palpitations and/or syncope


The cardiomyopathy tends to progress with age. Males tend to be symptomatic at a younger age but both men and women may be affected.


Other cardiac abnormalities include:

(1) disorders of the conduction system with arrhythmias

(2) valvular dysfunction

(3) coronary artery disease

(4) peripheral arterial disease


A male can be diagnosed by measuring alpha-galactosidase A activity in peripheral blood leukocytes. Identifying a female carrier may require GLA gene sequencing or identification of a known familial mutation since enzyme activity within leukocytes is often normal.


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