Abstract 14735: Fabry's Disease as a Potential Overlapping Diagnosis in Progressive Hypertrophic Cardiomyopathy

Abstract

Background: Fabry's disease (FD), an X-linked lysosomal storage disorder, can present with cardiac manifestations similar to HCM. We aim to emphasize considering FD as a differential diagnosis in patients with HCM while highlighting the role of genetic testing in evaluating left ventricular hypertrophy (LVH). Cases Presentation: We present a case series of 3 patients with LVH. Despite initial clinical suspicion of primary HCM, genetic testing confirmed the diagnosis of FD. Patient 1: A 38-year-old male with no prior medical history presented with presyncope, lightheadedness, and chest tightness. EKG, Echo, and cardiac MRI suggested apical HCM. Genetic testing indicated FD. Patient 2: A 62-year-old male sought a second opinion regarding his diffuse HCM. EKG suggested RBBB. Echo showed a binary appearance of the myocardium, concentric LVH. Genetic testing confirmed FD. Patient 3: A 64-year-old male with a history of hypertension and renal disease underwent evaluation for kidney transplantation. Echo showed severely increased concentric LVH and Valsalva-induced intracavitary gradient/obstruction. Alpha-galactosidase level returned very low, suggesting FD, which was confirmed by genetic testing. Discussion: FD can be challenging to diagnose due to overlapping clinical and imaging features with HCM, leading to misdiagnosis and delayed management. Therefore, Genetic testing should be offered to all patients with suspected HCM to exclude phenocopies. Particularly, those with progressive HCM and atypical clinical features (renal disease and family history predominantly in males) and imaging features (conduction abnormalities on EKG, binary appearance on Echo). Early identification of FD enables appropriate management, including enzyme replacement therapy, potentially improving clinical outcomes. Conclusions: FD should be considered as a differential diagnosis in patients with HCM. Genetic testing plays a vital role in evaluating patients with HCM.