Аннотация:
Aim. To study the nosological spectrum in the syndrome of primary left ventricle hypertrophy (PLVH) using morphological and genetic diagnostics and to compare the clinical course of true hypertrophic cardiomyopathy (HCM) and its phenocopy. Material and methods. Fifty five adult patients (29 men, 48.2±17.0 years) with PLVH (12 mm and more) were included. The exclusion criteria were athletic heart, hypertensive heart disease, severe valvular disease and other causes of secondary left ventricle (LV) hypertrophy. We performed 11 endomyocardial biopsy, 8 intraoperative biopsy, 1 study of explanted heart, 1 autopsy with virus investigation (real-time polymerase chain reaction) of the blood and myocardium. Mutational screening had included simultaneous sequencing of the MYBPC3, TAZ, TPM1, LDB3, MYL2, ACTC1, MYL3, MYH7, TNNI3 and TNNT2 genes based on NGS technology (Ion Torrent PGMTM) with following Sanger resequencing of potentially significant genetic variants. For patients with a phenotype
Благова О. В. Ольга Владимировна 1974-
Заклязьминская Е. В. Елена Валерьевна 1971-
Коган Е. А. Евгения Алтаровна 1951-
Седов В. П. Всеволод Парисович 1952-
Radzhabova G. M.
Polyak M. E.
Недоступ А. В. Александр Викторович 1939-
Blagova O. V. Ol`ga Vladimirovna 1974-
Zaklyaz`minskaya E. V. Elena Valeryevna 1971-
Kogan E. A. Evgeniya Altarovna 1951-
Sedov V. P. Vsevolod Parisovich 1952-
Раджабова Г. М.
Поляк М. Е.
Nedostup A. V. Aleksandr Viktorovich 1939-
Syndrome of primary myocardial hypertrophy: Clinical and morphological, genetic diagnostics and comparison of sarcomerial variants of cardiomyopathy and its phenocopy [Синдром первичной гипертрофии миокарда: клинико-морфологическая, генетическая диагностика и сопоставление саркомерных вариантов кардиомиопатии и ее фенокопий]
Syndrome of primary myocardial hypertrophy: Clinical and morphological, genetic diagnostics and comparison of sarcomerial variants of...
Текст визуальный непосредственный
Рациональная фармакотерапия в кардиологии
Столичная издательская компания
Т. 15, Вып. 4 С. 484-494
2019
Статья
Amyloidosis Danone's disease Fabry disease Friedreich's ataxia Hypertrophic cardiomyopathy LEOPARD syndrome Myocardial biopsy Myocarditis Primary myocardial hypertrophy
actc1 protein alpha tropomyosin ldb3 protein myh7 protein myl2 protein myl3 protein protein protein Myb protein Mybpc3 taz protein tnni3 protein tnnt2 protein unclassified drug adult amyloidosis Article autopsy cerebrovascular accident clinical feature computer assisted tomography controlled study coronary angiography Danon disease disease course disease severity echocardiography Fabry disease female follow up Friedreich ataxia gene mutation gene sequence gene targeting genetic disorder genetic screening genetic variability heart ejection fraction heart failure heart left ventricle hypertrophy heart muscle biopsy heart right ventricle hypertrophy Holter monitoring human Human herpesvirus 6 Human parvovirus B19 human tissue hypertension hypertrophic cardiomyopathy LEOPARD syndrome major clinical study male medical genetics middle aged nuclear magnetic resonance imaging phenotype QRS complex real time polymerase chain reaction Sang
Aim. To study the nosological spectrum in the syndrome of primary left ventricle hypertrophy (PLVH) using morphological and genetic diagnostics and to compare the clinical course of true hypertrophic cardiomyopathy (HCM) and its phenocopy. Material and methods. Fifty five adult patients (29 men, 48.2±17.0 years) with PLVH (12 mm and more) were included. The exclusion criteria were athletic heart, hypertensive heart disease, severe valvular disease and other causes of secondary left ventricle (LV) hypertrophy. We performed 11 endomyocardial biopsy, 8 intraoperative biopsy, 1 study of explanted heart, 1 autopsy with virus investigation (real-time polymerase chain reaction) of the blood and myocardium. Mutational screening had included simultaneous sequencing of the MYBPC3, TAZ, TPM1, LDB3, MYL2, ACTC1, MYL3, MYH7, TNNI3 and TNNT2 genes based on NGS technology (Ion Torrent PGMTM) with following Sanger resequencing of potentially significant genetic variants. For patients with a phenotype