National Medical Research Center for Therapy and Preventive Medicine, 101990 Moscow, Russia.
Federal State Budgetary Institution "National Medical Research Center of Endocrinology" of the Ministry of Health of Russia, 115478 Moscow, Russia.
Genes (Basel). 2022 Feb 7;13(2):309. doi: 10.3390/genes13020309.
Left ventricular noncompaction (LVNC) is a highly heterogeneous primary disorder of the myocardium. Its clinical features and genetic spectrum strongly overlap with other types of primary cardiomyopathies, in particular, hypertrophic cardiomyopathy. Study and the accumulation of genotype-phenotype correlations are the way to improve the precision of our diagnostics. We present a familial case of LVNC with arrhythmic and thrombotic complications, myocardial fibrosis and heart failure, cosegregating with the splicing variant in the gene. This is the first description of -dependent LVNC to our knowledge. We also revise the assumed mechanism of pathogenesis in the case of splicing alterations.
左心室心肌致密化不全（LVNC）是一种高度异质性的原发性心肌疾病。其临床特征和遗传谱与其他类型的原发性心肌病，尤其是肥厚型心肌病高度重叠。对基因型-表型相关性的研究和积累是提高我们诊断精度的途径。我们报告了一个伴有心律失常和血栓并发症、心肌纤维化和心力衰竭的 LVNC 家族病例，该疾病与 基因的剪接变异相关。据我们所知，这是首例报道的 依赖性 LVNC。我们还在该病例中修正了剪接改变导致发病的假设机制。
