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Treatment of hypertrophic cardiomyopathy caused by cardiospecific variants of Fabry disease with chaperone therapy
Jonas Müntze, Tim Salinger, Daniel Gensler, Christoph Wanner, and Peter Nordbeck*
Department of Internal Medicine I and Comprehensive Heart Failure Center, University Hospital Würzburg, Oberdürrbacher Straße 6, 97080 Würzburg, Germany
*Corresponding author. Tel: +49 931 201 39181, Fax: +49 931 201 639191, Email: nordbeck_p@ukw.de
A 52-year-old male patient diagnosed for hypertrophic cardiomyopathy was admitted to our clinic in October 2015 for unusual rapid worsening of heart failure symptoms. The electrocardiogram showed negative T-waves in inferior leads and a positive Sokolow index for left ventricular (LV) hypertrophy (
Just recently, several specific mutations have been reported responsible for cardiac variants of Fabry disease, most prominently N215S and IVS4. For the Chinese hotspot mutation IVS4, a Taiwanese screening study revealed a prevalence of >1:1000 individuals, implying a disease frequency comparable to sarcomeric hypertrophic cardiomyopathy in related populations. While treatment for classic Fabry disease in form of enzyme replacement therapy has been introduced more than 15 years ago, both short- and long-term data question substantial positive
Supplementary material is available at