Application of Genetic Testing in Unveiling the Diagnosis of Fabry Disease in a Patient with Hypertrophic Cardiomyopathy.

Fabry disease (FD) is a lysosomal storage disorder with an X-linked genetic pattern. It is caused by the genetic mutations in the galactosidase alpha gene on the long arm of the X-chromosome, resulting in the deficiency of the alpha-galactosidase A enzyme activity. This leads to an accumulation of globotriaosylceramide in a variety of cells, including cells in the heart. Left ventricular hypertrophy is one of the most common manifestations of FD involving the heart. Further cardiac disease progression portends significant morbidity and mortality. The early initiation of enzyme replacement therapy is associated with reversal or halting of the disease's progression and an improved clinical outcome. Here, we present the case of a 40-year-old male patient with left ventricular hypertrophy based on the results of a transthoracic echocardiogram and advanced cardiac imaging. He was later diagnosed with FD with the assistance of genetic testing. We also briefly outline the diagnostic challenges and treatment of FD.