CLINICAL CASE OF NON-COMPACTION CARDIOMYOPATHY IN A PATIENT WITH PKP2 GENE MUTATION
https://doi.org/10.38109/2225-1685-2020-3-106-111
Abstract
The features of the clinical course of non-compaction cardiomyopathy, its prognosis and even its diagnosis are still the subject of discussion. The variety of phenotypes of this disease and genetic heterogeneity dictates the need for detailed clinical and molecular genetic examination of patients with this pathology. The article presents a clinical observation of a patient with a dilated phenotype of left ventricular non-compaction, progression of chronic heart failure, as well as the presence of ventricular rhythm and conduction disorders that required the implantation of cardiac resynchronization therapydefibrillator (CRT-D). The patient was found to have a missense mutation c. 1892A>G (p.Tyr631Cys, rs1060501183) in PKP2 gene in a heterozygous state. The issues of differential diagnostics with arrhythmogenic right ventricular cardiomyopathy and treatment strategies for the disease were discussed.
About the Authors
S. Komissarova
State Institution Republican Scientific and Practical Centre «Cardiology»
Belarus
Svetlana M. Komissarova, Dr. med. Sci., Associate Professor, Leading Researcher, Laboratory of Chronic Heart Failure
Belarus
Svetlana M. Komissarova, Dr. med. Sci., Associate Professor, Leading Researcher, Laboratory of Chronic Heart Failure
N. Rineiskaya
State Institution Republican Scientific and Practical Centre «Cardiology»
Belarus
Nadezhda M. Rineyskaya, junior researcher, laboratory of chronic heart failure
Belarus
Nadezhda M. Rineyskaya, junior researcher, laboratory of chronic heart failure
N. Chakova
Institute of Genetics and Cytology of Belarus National Academy of Science
Belarus
Natalya N. Chakova, Leading Researcher, Laboratory of Animal Genetics
Belarus
Natalya N. Chakova, Leading Researcher, Laboratory of Animal Genetics
S. Niyazova
Institute of Genetics and Cytology of Belarus National Academy of Science
Belarus
Svetlana N. Niyazova, Junior Researcher, Laboratory of Animal Genetics
Belarus
Svetlana N. Niyazova, Junior Researcher, Laboratory of Animal Genetics
T. Dolmatovich
Institute of Genetics and Cytology of Belarus National Academy of Science
Belarus
Tatyana V. Dolmatovich, Leading Researcher, Laboratory of Animal Genetics
Belarus
Tatyana V. Dolmatovich, Leading Researcher, Laboratory of Animal Genetics
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Review
For citations:
Komissarova S., Rineiskaya N., Chakova N., Niyazova S., Dolmatovich T. CLINICAL CASE OF NON-COMPACTION CARDIOMYOPATHY IN A PATIENT WITH PKP2 GENE MUTATION. Eurasian heart journal. 2020;(3):106-111. (In Russ.) https://doi.org/10.38109/2225-1685-2020-3-106-111
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