Title

Fabry's Disease with LVOT Obstruction: Diagnosis and Management

Publication/Presentation Date

9-2013

Abstract

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.

Volume

28

Issue

6

First Page

695

Last Page

698

ISSN

08860440

Disciplines

Cardiology | Diseases | Medical Sciences | Medical Specialties | Medicine and Health Sciences | Surgery

PubMedID

23992477

Department(s)

Department of Medicine, Cardiology Division, Department of Surgery, USF-LVHN SELECT Program, USF-LVHN SELECT Program Students

Document Type

Article