An adult with Fabry Disease may develop cardiac disease associated with changes in the electrocardiogram and echocardiogram.
Pathogenesis: alpha-galactosidase A deficiency
Inheritance: X-linked
ECG changes may include:
(1) left ventricular hypertrophy by Sokolow-Lyon criteria
(2) right bundle branch block
(3) prolonged QRS duration (prolonged ventricular depolarization)
(4) prolonged P wave duration
(5) prolonged PQ interval
(6) increased R wave amplitude in lead I
Changes in transthoracic echocardiogram:
(1) increased left ventricular wall thickness
(2) increased left atrial volume indexed to BSA (LAVI)
(3) impaired basal longitudinal strain and impaired global longitudinal strain
