{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T17:32:06Z","timestamp":1793640726945,"version":"4.5.1"},"reference-count":15,"publisher":null,"issue":"4","license":[{"start":{"date-parts":[[2020,5,4]],"date-time":"2020-05-04T00:00:00Z","timestamp":1588550400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/lib.ossn.ru\/jour\/about\/editorialPolicies#openAccessPolicy"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Kardiologiia"],"abstract":"<jats:p>\n                    <jats:italic>Aim<\/jats:italic>\n                    To study the clinical course of the mixed phenotype (hypertrophic cardiomyopathy, HCMP, and left ventricular noncompaction, LVNC); to determine its genetic causes; and to evaluate incidence of cardiovascular complications (CVC) during the follow-up period.\n                    <jats:italic>Material and methods<\/jats:italic>\n                    In screening of 286 patients with HCMP, 8 of them (2.8\u200a%; median age, 41.5 years; 4 men and 4 women) from unrelated families were found to have the mixed phenotype (combination of HCMP and LVNC). For their 10 first-degree relatives, the most frequent phenotype was HCMP without LVNC; however, both isolated LVNC and the mixed phenotype were also observed. Criteria for HCMP and LVNC were confirmed by echocardiography and cardiac magnetic resonance imaging Genotyping was performed by high-throughput sequencing NGT using the TruSight Cardio Sequencing Panel kit.\n                    <jats:italic>Results<\/jats:italic>\n                    Probands with the HCMP+LVNC combination compared to first-degree relatives with isolated HCMP and LVNC were characterized by more pronounced left ventricular dysfunction (ejection fraction, 43.57\u00b17.6 and 53.64\u00b16.51\u200a%, respectively; p&lt;0.001), a higher risk of CVC, and a higher incidence of ventricular tachyarrhythmias (7.9 and 2.2\u200a%, respectively; p&lt;0.01). 11 mutations in 5 genes were found in 8 patients with the mixed phenotype. 72.7\u200a% of mutations were in the MYH7 and MYBPC3 genes that encode the heavy chain of \u03b2-myosin and myosin-binding protein C, respectively; however, in some cases, replacements in other genes (DTNA, TGFB2) were also found.\n                    <jats:italic>Conclusion<\/jats:italic>\n                    The mixed phenotype (HCMP and LVNC) is associated with more severe clinical course of the disease and unfavorable CVC.\n                  <\/jats:p>","DOI":"10.18087\/cardio.2020.4.n728","type":"journal-article","created":{"date-parts":[[2020,5,12]],"date-time":"2020-05-12T05:14:45Z","timestamp":1589260485000},"page":"137-145","source":"Crossref","is-referenced-by-count":10,"title":["Overlapping Phenotype: Left Ventricular non-Compaction and Hypertrophic Cardiomyopathy"],"prefix":"10.68900","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9917-5932","authenticated-orcid":true,"given":"S. M.","family":"Komissarova","sequence":"first","affiliation":[{"name":"State Institution Republican Scientific and Practical Centre \u00abCardiology\u00bb"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1986-1367","authenticated-orcid":true,"given":"N. M.","family":"Rineiska","sequence":"additional","affiliation":[{"name":"State Institution Republican Scientific and Practical Centre \u00abCardiology\u00bb"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4721-9109","authenticated-orcid":true,"given":"N. N.","family":"Chakova","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Cytology of Belarus National Academy of Sciences"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3566-7644","authenticated-orcid":true,"given":"S. S.","family":"Niyazova","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Cytology of Belarus National Academy of Sciences"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":null,"published-online":{"date-parts":[[2020,5,4]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","unstructured":"Gati S, Chandra N, Bennett RL, Reed M, Kervio G, Panoulas VF et al. Increased left ventricular trabeculation in highly trained athletes: do we need more stringent criteria for the diagnosis of left ventricular non-compaction in athletes? Heart. 2013;99(6):401\u20138. DOI: 10.1136\/heartjnl-2012-303418","DOI":"10.1136\/heartjnl-2012-303418"},{"key":"ref2","doi-asserted-by":"crossref","unstructured":"Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D et al. 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