Familial left ventricular noncompaction: phenotypes and clinical course. Results of the multicenter registry

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.

Role of cardiac magnetic resonance imaging in assessing the risk of various myocardial remodeling types in left ventricular noncompaction: genetic analysis data

“…Большинство случаев НКМЛЖ имеют генетическую природу, причем многие авторы отмечают выраженную генетическую гетерогенность данного патологического состояния. Впрочем, наиболее распространенными среди генов, предрасполагающих к развитию НКМЛЖ, являются саркомерные гены [9,10].…”

Genetic landscape in Russian patients with familial left ventricular noncompaction

“…For heterogeneous disorders such as LVNC, a better understanding of its genetic background could improve outcome prediction and patient management. The aim of this study was to clarify the genetic landscape of LVNC in a large cohort of well-phenotyped Russian patients listed in the multicenter LVNC register ( 8 ).…”