2016


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2016/№4

Genetic variants of cardiomyopathies with the neuromuscular phenotype

Kostareva A. A.1, Pervunina T. M.1, Moiseeva O. M.1, Vershinina T. L.1, Gudkova A. Ya.1, Romanova E. I.1, Kozlova S. N.1, Rudenko D. I.2, Sejersen T.3, Sjoberg G.3, Shlyakhto E. V.1
1 – Federal State Budgetary Institution, "Almazov North-West Federal Medical Research Center" of the RF Ministry of Health Care, Akkuratova 2, St. Petersburg 97341
2 – State Budgetary Educational Institution of Higher Professional Education, "I.P. Pavlov First St.-Petersburg State Medical University" of the RF Ministry of Health Care, L. Tolstogo 6/8, St. Petersburg 197022
3 – Karolinska Institute, Stockholm 17176, Sweden

Keywords: cardiomyopathy, genetic diagnosis, neuromuscular diseases, gene mutations, dystrophin, desmin, lamin

DOI: 10.18087/rhfj.2016.4.2241

Cardiomyopathies can be associated with damage of the neuromuscular system. However, due to low physical activity of patients, manifestations of neuromuscular diseases may be obscure. At the same time, manifestations of HF and heart rhythm disorders may be the first clinical symptoms of a number of neuromuscular diseases. Among more than 100 genes associated with development of various cardiomyopathies, 25% of these genes can also be responsible for development of neuromuscular diseases. This review focuses on the cardiomyopathy variants, in which major clinical cardiovascular signs can be associated with signs of neuromuscular pathology, such as dystrophinopathy, laminopathy, desmin myopathy, congenital muscular dystrophy, and limb-girdle myodystrophy.
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Kostareva A.A., Pervunina T.M., Moiseeva O.M., Vershinina T.L., Gudkova A.Ya., Romanova E.I. et al. Genetic variants of cardiomyopathies with the neuromuscular phenotype. Russian Heart Failure Journal. 2016;17 (4):278–286

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