Fabry's Disease with LVOT Obstruction: Diagnosis and Management
A 46-year-old male was diagnosed with hypertrophic cardiomyopathy (HCM) and severe left ventricular outflow tract (LVOT) obstruction. Genetic testing revealed that this was a "mimic of HCM" and the true diagnosis was Fabry's disease, although there were no other clinical features of Fabry's. Despite maximal medical therapy he remained symptomatic from the outflow tract gradient and required surgical myectomy for symptom relief. This case illustrates the diagnosis of an HCM mimic by genetic testing.
Published In/Presented At
Blount, J., Wu, J., & Martinez, M. (2013). Fabry's disease with LVOT obstruction: diagnosis and management. Journal Of Cardiac Surgery, 28(6), 695-698. doi:10.1111/jocs.12209
Cardiology | Diseases | Medical Sciences | Medical Specialties | Medicine and Health Sciences | Surgery
Department of Medicine, Cardiology Division, Department of Surgery, USF-LVHN SELECT Program, USF-LVHN SELECT Program Students