A 37-year-old woman, who had been healthy and had no symptoms, was diagnosed with Fabry’s disease (FD) , passed on by her mother, in 20XX-1, and came to our hospital after a negative T wave was found in her physical examination in 20XX. Echocardiography revealed a left ventricular ejection fraction of 72%, an interventricular septal wall thickness (I VS) of 10 mm, a posterior left ventricular wall thickness (PW) of 9 mm, and a cardiac MRI that showed no delayed contrast, but a deletion mutation in the GLA gene, the same as that in her mother, leading to the diagnosis of FD. Echocardiographic measurements of left ventricular wall thickness showed no evidence of left ventricular hypertrophy, but the left ventricular relative wall thickness (RWT) was 0.43, indicating relative left ventricular hypertrophy, and enzyme replacement therapy was introduced early. After 6 months of treatment, the RWT was 0.57, but the RWT was rechecked every 6 months, and the left ventricular hypertrophy gradually improved to 0.52, 0.51, and 0.47; the the progress was good.

According to the guidelines for the treatment of cardiomyopathy, hypertrophic cardiomyopathy should be suspected when the left ventricular wall thickness is greater than 13 mm. Of these patients, 5 -10 % have secondary cardiomyopathy, with FD being the most frequent. It is well known that among FD patients with only mild left ventricular hypertrophy, those diagnosed relatively early without delayed contrast on cardiac magnetic resonance imaging can have improved left ventricular wall thickness with enzyme replacement therapy. We report here a review of the literature on the use of RWT to evaluate left ventricular hypertrophy in patients with very early-stage FD.