Premium
Fabry's Disease with LVOT Obstruction: Diagnosis and Management
Author(s) -
Blount Jacob R.,
Wu James K.,
Martinez Matthew W.
Publication year - 2013
Publication title -
journal of cardiac surgery
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.428
H-Index - 58
eISSN - 1540-8191
pISSN - 0886-0440
DOI - 10.1111/jocs.12209
Subject(s) - medicine , hypertrophic cardiomyopathy , ventricular outflow tract , ventricular outflow tract obstruction , cardiology , fabry disease , septal myectomy , genetic testing , disease , medical therapy , cardiomyopathy , obstructive cardiomyopathy , heart failure
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. doi: 10.1111/jocs.12209 (J Card Surg 2013;28:695–698)