Paradoxical Response to Enzyme Replacement Therapy of Fabry Disease Cardiomyopathy

Circ Cardiovasc Imaging. 2016 Aug;9(8):e005078. doi: 10.1161/CIRCIMAGING.116.005078.

Authors

Andrea Frustaci¹, Matteo A Russo², Cristina Chimenti²

Affiliations

¹ From the Department of Cardiovascular, Respiratory, Nefrologic and Geriatric Sciences, La Sapienza University, Rome, Italy (A.F., C.C.); and Mebic Consortium, San Raffaele University, Rome, Italy (M.A.R.). biocard@inmi.it.
² From the Department of Cardiovascular, Respiratory, Nefrologic and Geriatric Sciences, La Sapienza University, Rome, Italy (A.F., C.C.); and Mebic Consortium, San Raffaele University, Rome, Italy (M.A.R.).

PMID: 27486136
DOI: 10.1161/CIRCIMAGING.116.005078

No abstract available

Keywords: Fabry disease; atenolol; biopsy; cell size; dyspnea.

Publication types

Case Reports

MeSH terms

DNA Mutational Analysis
Drug Resistance
Enzyme Replacement Therapy*
Fabry Disease / diagnosis
Fabry Disease / drug therapy*
Fabry Disease / enzymology
Fabry Disease / genetics
Genetic Predisposition to Disease
Humans
Isoenzymes / therapeutic use
Male
Microfilament Proteins / genetics
Middle Aged
Mutation
Phenotype
Treatment Failure
alpha-Galactosidase / genetics
alpha-Galactosidase / therapeutic use*

Substances

Isoenzymes
Microfilament Proteins
NEXN protein, human
GLA protein, human
alpha-Galactosidase

Supplementary concepts

Fabry Disease, Cardiac Variant