Cardiac phenotype of Fabry Disease
M. S. Kharlap,
R. P. Myasnikov,
T. О. Pavlunina,
S. A. Beregovskaya,
N. A. Sonicheva,
E. A. Mershina,
K. V. Davtyan https://doi.org/10.15829/1560-4071-2018-7-80-83
Abstract
Clinical case demonstrates a cardiovascular phenotype of Fabry disease — rare inherited disorder, linked with female sex. Clinically manifest Fabry disease is described in female patient with paroxysmal atrial fibrillation. The specifics of differential diagnostics described, as of management, and indications for genetic diagnostics and prescription of genotype-specific enzyme replacement therapy.
About the Authors
M. S. Kharlap
National Research Center for Preventive Medicine of the Ministry of Health
Russian Federation
Moscow
Russian Federation
Moscow
R. P. Myasnikov
National Research Center for Preventive Medicine of the Ministry of Health
Russian Federation
Moscow
Russian Federation
Moscow
T. О. Pavlunina
National Research Center for Preventive Medicine of the Ministry of Health
Russian Federation
Moscow
Russian Federation
Moscow
S. A. Beregovskaya
National Research Center for Preventive Medicine of the Ministry of Health
Russian Federation
Moscow
Russian Federation
Moscow
N. A. Sonicheva
Scientific committee of the genetic laboratory «Health in Code»
Spain
La Corugna
Spain
La Corugna
E. A. Mershina
Lomonosov Moscow State University
Moscow
Moscow
K. V. Davtyan
National Research Center for Preventive Medicine of the Ministry of Health
Russian Federation
Moscow
Russian Federation
Moscow
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Review
For citations:
Kharlap M.S., Myasnikov R.P., Pavlunina T.О., Beregovskaya S.A., Sonicheva N.A., Mershina E.A., Davtyan K.V. Cardiac phenotype of Fabry Disease. Russian Journal of Cardiology. 2018;(7):80-83. (In Russ.) https://doi.org/10.15829/1560-4071-2018-7-80-83
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