Kulikova O V, Myasnikov R P, Mershina E A, Pilus P S, Koretskiy S N, Meshkov A N, Kiseleva A V, Kharlap M S, Sinitsyn V E, Sdvigova N A, Gandaeva L A, Barskiy V I, Derevnina Y V, Zharova O P, Basargina E N, Boytsov S A, Drapkina O M
National Medical Research Center for Therapy and Preventive Medicine.
Lomonosov Moscow State University.
Ter Arkh. 2021 Apr 15;93(4):381-388. doi: 10.26442/00403660.2021.04.200677.
To analyze and demonstrate various phenotypes in patients with familial left ventricular noncompaction (LVNC).
In 2013 was created a multicenter registry of LVNC patients. On its basis 30 families with a familial LVNC were selected.
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.
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.
分析并展示家族性左心室心肌致密化不全（LVNC）患者的各种表型。
2013年建立了LVNC患者多中心登记处。在此基础上，选择了30个患有家族性LVNC的家庭。
从登记处选取了30个LVNC家庭。在总共115人（先证者及亲属）中，71人（61.7%）被诊断为LVNC（30名先证者和41名符合非致密心肌标准的亲属）。患者中最常见的重构类型是扩张型（DT）（n = 30），射血分数（EF）保留的孤立性LVNC稍少见（n = 23），8例患者检测到肥厚型（GT）。4例患者被诊断为EF降低的孤立性LVNC。3例患者合并非致密心肌与先天性心脏病以及DT和GT合并（DT + GT）。在病例分析过程中，观察到同一家庭中存在不同表型的组合。诊断出最多家庭的是DT与EF保留的孤立性LVNC的组合。心血管并发症的发生与DT相关。
LVNC的家族病例有不同类型的心肌重构和临床病程变异。在一个家庭中，可能存在不同类型左心室重构的组合。DT与最严重的临床表现相关。EF保留的孤立性LVNC的临床表现最有利，但在少数情况下，也观察到严重的临床表现。
