Desmoplakin and features of desmoplakin cardiomyopathy
R. P. Myasnikov,
N. N. Kuzina,
D. A. Nefedova,
A. V. Kiseleva,
O. V. Kulikova,
A. N. Meshkov,
M. M. Kudryavtseva,
E. A. Mershina,
M. g. Divashuk,
E. V. Ryzhkova,
M. S. Kharlap,
O. M. Drapkina https://doi.org/10.15829/1560-4071-2023-5648
EDN: JSXHYA
Abstract
Inherited cardiomyopathies (CMP) are a group of heterogeneous diseases characterized by myocardial disorders that is not caused by coronary artery disease, hypertension, valvular and congenital defects. With the development of imaging methods and molecular genetic diagnostics, it has become clear that many CMPs are characterized by phenotypic and genotypic "crossover". And although the genetic component does not always determine the specific phenotype of the disease, genetic testing plays a significant role in risk stratification, determining the prognosis and management of patients, as well as conducting family screening. Considering the high diagnostic and prognostic value of genotype, novel genotype-based strategies for classifying CMP have been proposed in recent years. One example of such a genotype-specific approach is the identification of desmoplakin CMP as a separate independent clinical entity. The article presents a case of a family with a pathogenic DSP gene variant (p.Gln948LysfsTer29) identified in three generations, leading to the development of a specific CMP phenotype. A comprehensive examination was carried out. We demonstrated the stages of natural disease course, as well as management strategy for patients with desmoplakin CMP were proposed.
About the Authors
R. P. Myasnikov
ФГБУ Национальный медицинский исследовательский центр терапии и профилактической медицины Минздрава России
Russian Federation
Russian Federation
N. N. Kuzina
National Medical Research Center for Therapy and Preventive Medicine
Moscow
D. A. Nefedova
National Medical Research Center for Therapy and Preventive Medicine
Moscow
A. V. Kiseleva
National Medical Research Center for Therapy and Preventive Medicine
Moscow
O. V. Kulikova
National Medical Research Center for Therapy and Preventive Medicine
Moscow
A. N. Meshkov
National Medical Research Center for Therapy and Preventive Medicine
Moscow
M. M. Kudryavtseva
National Medical Research Center for Therapy and Preventive Medicine
Moscow
E. A. Mershina
Medical Research and Educational Center of the Moscow State University
Moscow
M. g. Divashuk
National Medical Research Center for Therapy and Preventive Medicine;
All-Russian Research Institute of Agricultural Biotechnology
Moscow
E. V. Ryzhkova
National Medical Research Center for Therapy and Preventive Medicine;
Medical Research and Educational Center of the Moscow State University
Moscow
M. S. Kharlap
National Medical Research Center for Therapy and Preventive Medicine
Moscow
O. M. Drapkina
National Medical Research Center for Therapy and Preventive Medicine
Moscow
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Supplementary files
- Desmoplakin cardiomyopathy (CMP) is a unique CMP characterized by predominant LV involvement with extensive subepicardial fibrosis, life-threatening ventricular arrhythmias, and episodes of myocardial inflammation. However, given the recent identification of desmoplakin CMP as a separate clinical entity, the management of such patients, including the prevention of sudden cardiac death (SCD), remains controversial.
- The article presents a case of a family with desmoplakin CMP, as well as a review of current literature data on this disease.
- The need to use a genotype-specific diagnosis, choice of management tactics and prevention of SCD in patients with desmoplakin CMP is em - phasized.
Review
For citations:
Myasnikov R.P., Kuzina N.N., Nefedova D.A., Kiseleva A.V., Kulikova O.V., Meshkov A.N., Kudryavtseva M.M., Mershina E.A., Divashuk M.g., Ryzhkova E.V., Kharlap M.S., Drapkina O.M. Desmoplakin and features of desmoplakin cardiomyopathy. Russian Journal of Cardiology. 2023;28(11):5648. (In Russ.) https://doi.org/10.15829/1560-4071-2023-5648. EDN: JSXHYA
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