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

S D Med 2021 Apr;74(4):150-152.

PMID: 344329600

Maheedhar Gedela, Rakshya Sharma, Kristin DeBerg

Highlights: In this paper, the case of a 40-year-old male FD patient with left ventricular hypertrophy is described.

Abstract

Background: The lysosomal storage disease Fabry disease (FD) has an X-linked genetic pattern. Genetic mutations in the galactosidase alpha gene on the long arm of the X-chromosome produce a deficit in the activity of the alpha-galactosidase A enzyme. This causes globotriaosylceramide to build up in a number of cells, including those in the heart. One of the most frequent cardiac manifestations of FD is left ventricular hypertrophy. The progression of cardiac disease will result in considerable morbidity and mortality. Early commencement of enzyme replacement treatment is associated with reversal or halting of the disease progression and better clinical outcomes.

Objectives: Based on the results of a transthoracic echocardiography and advanced cardiac imaging, we describe the case of a 40-year-old male patient with left ventricular hypertrophy. With the help of genetic testing, he was later diagnosed with FD. We also go through the diagnostic challenges and therapy options for FD.

Keywords: Fabry Disease, hypertrophic cardiomyopathy, genetic testing