evrazkarЕвразийский Кардиологический ЖурналEurasian heart journal2225-16852305-0748Евразийская ассоциация кардиологов10.38109/2225-1685-2016-1-3-11evrazkar-5657Research ArticleОРИГИНАЛЬНЫЕ СТАТЬИORIGINAL PAPERSМУТАЦИИ ГЕНА ЛАМИНА A/C (LMNA) У ПАЦЕНТОВ С ДИЛАТАЦИОННОЙ КАРДИОМИОПАТИЕЙ И ИХ ФЕНОТИПИЧЕСКИЕ ПРОЯВЛЕНИЯLAMIN A/C GENE (LMNA) MUTATIONS IN PATIENTS WITH DILATED CARDIOMYOPATHY AND THEIR PHENOTYPIC MANIFESTATIONВайханскаяТ. Г.VaikhanskayaT. G.vaikh@mail.ruСивицкаяЛ. Н.SivitskayaL. N.cytoplasmic@mail.ruДаниленкоН. Г.DanilenkoN. G.cytoplasmic@mail.ruКурушкоТ. В.KurushkaT. V.tatkuko@mail.ruДавыденкоО. Г.DavydenkoO. G.cytoplasmic@mail.ruРеспубликанский научно-практический центр «Кардиология», функциональная группа клинической патофизиологии кровообращенияРоссияRepublican Scientific and Practical Center of CardiologyRussian FederationГосударственное научное учреждение «Институт генетики и цитологии», Национальная академия наук, лаборатория нехромосомной наследственностиРоссияInstitute of Genetics and Cytology, National Academy of SciencesRussian Federation20163003201601311Copyright © Вайханская Т.Г., Сивицкая Л.Н., Даниленко Н.Г., Курушко Т.В., Давыденко О.Г., 20162016Вайханская Т.Г., Сивицкая Л.Н., Даниленко Н.Г., Курушко Т.В., Давыденко О.Г.Vaikhanskaya T.G., Sivitskaya L.N., Danilenko N.G., Kurushka T.V., Davydenko O.G.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.heartj.asia/jour/article/view/5657

В статье приведены современные представления о структуре и функциях ядерных белков ламинов, патологические механизмы генных ламиновых мутаций и лечебно-диагностические проблемы ламин-ассоциированных форм дила-тационной кардиомиопатии (ДКМП). ДКМП, обусловленная мутациями ядерного гена ламина (LMNA), часто связана с нарушениями сердечного ритма, проводимости и различными скелетно-мышечными расстройствами. Это заболевание отличается неблагоприятным прогнозом, обусловленным высоким риском внезапной сердечной смерти из-за нарушений проводимости (жизнеугрожающие блокады) или желудочковой тахиаритмии (фатальные желудочковые тахикардии/ фибрилляции). В статье представлены 2 клинических случая ламиновых фенотипов ДКМП, ассоциированных с мутациями гена LMNA. В обучающем аспекте для практических врачей изложены дифференциальные клинические признаки потенциальных носителей LMNA мутаций, так как генетическая диагностика ламиновых ДКМП позволяет своевременно определить оптимальную тактику лечения и необходимость профилактической имплантации кардиовертера-дефибрил-лятора.

This article presents the current view on the structure and functions of nuclear lamin proteins, pathological phenotypes of persons with LMNA mutations and clinical problems of lamin-related dilated cardiomyopathy diagnostics and management. Dilated cardiomyopathy (DCM) caused by mutations in the LMNA gene is often associated with conduction disorders, cardiac arrhythmias and extracardiac features with discrete muscle disruption. This disease is characterized by a poor prognosis and high risk of sudden cardiac death due to conduction disturbances (life-threatening blockade) or ventricular tachyarrhythmias (fatal ventricular tachycardias\fibrillation). We describe here 2 cases of lamin-type DCM associated with definite LMNA mutations. Educational focus for reader-cardiologist is а recognition of potential carriers followed by molecular genetic testing for diagnostics of LMNA mutation and tissues regarding optimal management of patients, especially timing for prophylactic cardioverter-defibrillator.

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Cardiol 2011; 57:1641-1649Вайханская Т.Г., Сивицкая Л.Н, Даниленко Н.Г. и соавт. Что должен знать сегодня кардиолог о дилатационной кардиомиопатии, связанной с мутацией гена ламина (LMNA)? Кардиология в Беларуси 2013; 4 (29): 64-81.Вайханская Т.Г., Сивицкая Л.Н, Даниленко Н.Г. и соавт. Что должен знать сегодня кардиолог о дилатационной кардиомиопатии, связанной с мутацией гена ламина (LMNA)? Кардиология в Беларуси 2013; 4 (29): 64-81.

The authors declare that there are no conflicts of interest present.