Email this article Familial left ventricular noncompaction: phenotypes and clinical course. Results of the multicenter registry
- Authors: Kulikova O.V.1, Myasnikov R.P.1, Mershina E.A.2, Pilus P.S.2, Koretskiy S.N.1, Meshkov A.N.1, Kiseleva A.V.1, Kharlap M.S.1, Sinitsyn V.E.2, Sdvigova N.A.3, Gandaeva L.A.3, Barskiy V.I.3, Derevnina Y.V.3, Zharova O.P.3, Basargina E.N.3, Boytsov S.A.4, Drapkina O.M.1
-
Affiliations:
- National Medical Research Center for Therapy and Preventive Medicine
- Lomonosov Moscow State University
- National Medical Research Center for Children’s Health
- National Medical Research Center of Cardiology
- Issue: Vol 93, No 4 (2021)
- Pages: 381-388
- Section: Original articles
- URL: https://journals.rcsi.science/0040-3660/article/view/71171
- DOI: https://doi.org/10.26442/00403660.2021.04.200677
- ID: 71171
Cite item
Full Text
Abstract
Aim. To analyze and demonstrate various phenotypes in patients with familial left ventricular noncompaction (LVNC).
Materials and methods. In 2013 was created a multicenter registry of LVNC patients. On its basis 30 families with a familial LVNC were selected.
Results. 30 LVNC families were selected from the register. From a total of 115 people (probands and relatives) in 71 (61.7%) LVNC was diagnosed (30 probands and 41 relatives with non-compact myocardial criteria). The most common type of remodeling in patients was the dilated type (DT) (n=30), the isolated LVNC with preserved ejection fraction (EF) was slightly less common (n=23), and the hypertrophic type (GT) was detected in 8 patients. 4 patients were diagnosed with the isolated LVNC with a reduced EF. 3 patients were with a combination of non-compact myocardium with congenital heart disease and with a combination of DT and GT (DT+GT). During the analysis of cases a combination of different phenotypes in the same family was observed. The largest number of families was diagnosed with a combination of DT and the isolated LVNC with preserved EF. The development of cardiovascular complications was associated with DT.
Conclusion. Family cases of LVNC had different types of myocardial remodeling and variants of clinical course. In one family a combination of different types of left ventricular remodeling is possible. DT is associated with the most severe clinical manifestations. The clinical picture of the isolated LVNC with preserved EF, is the most favorable, but in rare cases, serious clinical manifestations were observed.
Full Text
##article.viewOnOriginalSite##About the authors
Olga V. Kulikova
National Medical Research Center for Therapy and Preventive Medicine
Author for correspondence.
Email: olgakulikova2014@mail.ru
ORCID iD: 0000-0002-3138-054X
мл. науч. сотр. отд. клинической кардиологии
Russian Federation, MoscowRoman P. Myasnikov
National Medical Research Center for Therapy and Preventive Medicine
Email: olgakulikova2014@mail.ru
ORCID iD: 0000-0002-9024-5364
к.м.н., ст. науч. сотр. отд. клинической кардиологии
Russian Federation, MoscowElena A. Mershina
Lomonosov Moscow State University
Email: olgakulikova2014@mail.ru
ORCID iD: 0000-0002-1266-4926
к.м.н., зав. отд-нием рентгенодиагностики
Russian Federation, MoscowPolina S. Pilus
Lomonosov Moscow State University
Email: olgakulikova2014@mail.ru
ORCID iD: 0000-0001-7802-2734
врач-рентгенолог отд-ния рентгенодиагностики
Russian Federation, MoscowSergei N. Koretskiy
National Medical Research Center for Therapy and Preventive Medicine
Email: olgakulikova2014@mail.ru
ORCID iD: 0000-0001-6009-5775
к.м.н., ст. науч. сотр. отд. фундаментальных и прикладных аспектов ожирения
Russian Federation, MoscowAleksei N. Meshkov
National Medical Research Center for Therapy and Preventive Medicine
Email: olgakulikova2014@mail.ru
ORCID iD: 0000-0001-5989-6233
к.м.н., рук. лаб. молекулярной генетики
Russian Federation, MoscowAnna V. Kiseleva
National Medical Research Center for Therapy and Preventive Medicine
Email: olgakulikova2014@mail.ru
ORCID iD: 0000-0003-4765-8021
к.б.н., ст. науч. сотр. лаб. молекулярной генетики
Russian Federation, MoscowMariia S. Kharlap
National Medical Research Center for Therapy and Preventive Medicine
Email: olgakulikova2014@mail.ru
ORCID iD: 0000-0002-6855-4857
к.м.н., ст. науч. сотр. отд. нарушений сердечного ритма и проводимости сердца
Russian Federation, MoscowValentin E. Sinitsyn
Lomonosov Moscow State University
Email: olgakulikova2014@mail.ru
ORCID iD: 0000-0002-5649-2193
д.м.н., проф.
Russian Federation, MoscowNataliia A. Sdvigova
National Medical Research Center for Children’s Health
Email: olgakulikova2014@mail.ru
ORCID iD: 0000-0002-5313-1237
врач-педиатр отд-ния кардиологии
Russian Federation, MoscowLeila A. Gandaeva
National Medical Research Center for Children’s Health
Email: olgakulikova2014@mail.ru
ORCID iD: 0000-0003-0890-7849
к.м.н., ст. науч. сотр., врач – детский кардиолог
Russian Federation, MoscowVladimir I. Barskiy
National Medical Research Center for Children’s Health
Email: olgakulikova2014@mail.ru
ORCID iD: 0000-0003-1267-1517
к.м.н., ст. науч. сотр. врач-рентгенолог
Russian Federation, MoscowYuliia V. Derevnina
National Medical Research Center for Children’s Health
Email: olgakulikova2014@mail.ru
ORCID iD: 0000-0002-6394-4020
мл. науч. сотр., врач – детский кардиолог
Russian Federation, MoscowOlga P. Zharova
National Medical Research Center for Children’s Health
Email: olgakulikova2014@mail.ru
ORCID iD: 0000-0003-4221-8406
науч. сотр., врач кардиологического отд-ния
Russian Federation, MoscowElena N. Basargina
National Medical Research Center for Children’s Health
Email: olgakulikova2014@mail.ru
ORCID iD: 0000-0002-0144-2885
д.м.н., проф., гл. науч. сотр., зав. отд-нием кардиологии
Russian Federation, MoscowSergey A. Boytsov
National Medical Research Center of Cardiology
Email: olgakulikova2014@mail.ru
ORCID iD: 0000-0001-6998-8406
акад. РАН, д.м.н., проф., ген. дир.
Russian Federation, MoscowOksana M. Drapkina
National Medical Research Center for Therapy and Preventive Medicine
Email: olgakulikova2014@mail.ru
ORCID iD: 0000-0002-4453-8430
чл.-кор. РАН, д.м.н., проф., дир.
Russian Federation, MoscowReferences
- Towbin JA, Lorts A, Jefferies JL. Left ventricular non-compaction cardiomyopathy. Lancet. 2015;386(9995):813-25. doi: 10.1016/S0140-6736(14)61282-4
- Grothoff M, Pachowsky M, Hoffmann J, et al. Value of cardiovascular MR in diagnosing left ventricular non-compaction cardiomyopathy and in discriminating between other cardiomyopathies. Eur Radiol. 2012;22(12):2699-709. doi: 10.1007/s00330-012-2554-7
- van Waning JI, Moesker J, Heijsman D, et al. Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy. J Am Heart Assoc. 2019;8(23):e012993. doi: 10.1161/JAHA.119.012993
- Мясников Р.П., Щербакова Н.В., Куликова О.В., и др. Мутация гена DES в семье пробанда с миофибриллярной миопатией и развитием некомпактной кардиомиопатии, приведшей к трансплантации сердца. Рос. кардиол. журн. 2017;10:9-16 [Myasnikov RP, Shcherbakova NV, Kulikova ОV, et al. Des gene mutation in a family of proband with myofibrillary myopathy and non-compaction cardiomyopathy, resulted in cardiac transplantation. Russian Journal of Cardiology. 2017;10:9-16 (In Russ.)]. doi: 10.15829/1560-4071-2017-10-9-16
- Gati S, Papadakis M, Papamichael ND, et al. Reversible De Novo Left Ventricular Trabeculations in Pregnant Women. Circulation. 2014;130(6):475-83. doi: 10.1161/CIRCULATIONAHA.114.008554
- Gati S, Papadakis M, Van Niekerk N, et al. Increased left ventricular trabeculation in individuals with sickle cell anaemia: Physiology or pathology? Int J Cardiol. 2013;168(2):1658-60. doi: 10.1016/j.ijcard.2013.03.039
- Gati S, Chandra N, Bennett RL, 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):401-8. doi: 10.1136/heartjnl-2012-303418
- Stöllberger C, Wegner C, Finsterer J. Left ventricular hypertrabeculation/noncompaction, cardiac phenotype, and neuromuscular disorders. Herz. 2019;44(7):659-65. doi: 10.1007/s00059-018-4695-1
Supplementary files
