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Apical Left Ventricular Hypertrophy and Mid‐Ventricular Obstruction in Fabry Disease
Author(s) -
Cianciulli Tomás F.,
Saccheri María C.,
Fernández Segundo P.,
Fernández Cinthia C.,
Rozenfeld Paula A.,
Kisinovsky Isaac
Publication year - 2015
Publication title -
echocardiography
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.404
H-Index - 62
eISSN - 1540-8175
pISSN - 0742-2822
DOI - 10.1111/echo.12900
Subject(s) - hypertrophic cardiomyopathy , fabry disease , left ventricular hypertrophy , medicine , cardiology , muscle hypertrophy , cardiomyopathy , concentric hypertrophy , disease , ventricular hypertrophy , presentation (obstetrics) , ventricular outflow tract obstruction , heart failure , surgery , blood pressure
We report the case of a rare cardiac presentation of Fabry disease. Although concentric left ventricular hypertrophy is a major cardiac finding in Fabry disease, there is no case report of dynamic obstruction at mid‐left ventricular level. We describe a 59‐year‐old‐woman suffering from a severe form of Fabry disease, mimicking an apical hypertrophic cardiomyopathy with mid‐ventricular obstruction. Differentiation of Fabry disease from hypertrophic cardiomyopathy is crucial given the therapeutic and prognostic differences. Fabry disease should always be suspected in an adult, independently of the pattern of left ventricular hypertrophy.