Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction
MN Bainbridge, EE Davis, WY Choi… - Circulation …, 2015 - Am Heart Assoc
Background—Left ventricular noncompaction (LVNC) is an autosomal-dominant, genetically
heterogeneous cardiomyopathy with variable severity, which may co-occur with cardiac …
heterogeneous cardiomyopathy with variable severity, which may co-occur with cardiac …
Genetic basis of left ventricular noncompaction
P Rojanasopondist, L Nesheiwat… - Circulation: Genomic …, 2022 - Am Heart Assoc
Background: Left ventricular noncompaction (LVNC) is the third most common pediatric
cardiomyopathy characterized by a thinned myocardium and prominent trabeculations. Next …
cardiomyopathy characterized by a thinned myocardium and prominent trabeculations. Next …
[HTML][HTML] Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies
F Mazzarotto, MH Hawley, M Beltrami, L Beekman… - Genetics in …, 2021 - Elsevier
Purpose To characterize the genetic architecture of left ventricular noncompaction (LVNC)
and investigate the extent to which it may represent a distinct pathology or a secondary …
and investigate the extent to which it may represent a distinct pathology or a secondary …
Targeted panel sequencing in adult patients with left ventricular non‐compaction reveals a large genetic heterogeneity
Left ventricular non‐compaction (LVNC) is a cardiomyopathy that may be of genetic origin;
however, few data are available about the yield of mutation, the spectrum of genes and …
however, few data are available about the yield of mutation, the spectrum of genes and …
Genetic architecture of left ventricular noncompaction in adults
SB Ross, ES Singer, E Driscoll, N Nowak… - Human genome …, 2020 - nature.com
The genetic etiology and heritability of left ventricular noncompaction (LVNC) in adults is
unclear. This study sought to assess the value of genetic testing in adults with LVNC. Adults …
unclear. This study sought to assess the value of genetic testing in adults with LVNC. Adults …
Sarcomere gene variants act as a genetic trigger underlying the development of left ventricular noncompaction
A Takasaki, K Hirono, Y Hata, C Wang, M Takeda… - Pediatric …, 2018 - nature.com
Background Left ventricular noncompaction (LVNC) is a primary cardiomyopathy with
heterogeneous genetic origins. The aim of this study was to elucidate the role of sarcomere …
heterogeneous genetic origins. The aim of this study was to elucidate the role of sarcomere …
A wide and specific spectrum of genetic variants and genotype–phenotype correlations revealed by next‐generation sequencing in patients with left ventricular …
C Wang, Y Hata, K Hirono, A Takasaki… - Journal of the …, 2017 - Am Heart Assoc
Background Left ventricular noncompaction (LVNC) has since been classified as a primary
genetic cardiomyopathy, but the genetic basis is not fully evaluated. The aim of the present …
genetic cardiomyopathy, but the genetic basis is not fully evaluated. The aim of the present …
Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation
M Luedde, P Ehlermann, D Weichenhan… - Cardiovascular …, 2010 - academic.oup.com
Aims Left ventricular non-compaction (LVNC) is caused by mutations in multiple genes. It is
still unclear whether LVNC is the primary determinant of cardiomyopathy or rather a …
still unclear whether LVNC is the primary determinant of cardiomyopathy or rather a …
Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15
S Sasse-Klaassen, S Probst, B Gerull, E Oechslin… - Circulation, 2004 - Am Heart Assoc
Background—Left ventricular noncompaction (LVNC) is a congenital unclassified
cardiomyopathy with numerous prominent trabeculations and deep intertrabecular recesses …
cardiomyopathy with numerous prominent trabeculations and deep intertrabecular recesses …
Clinical and genetic complexities of left ventricular noncompaction: preventing overdiagnosis in a disease we do not understand
SB Ross, C Semsarian - JAMA cardiology, 2018 - jamanetwork.com
The Existing Evidence Traditionally, LVNC has been diagnosed according to criteria applied
to transthoracic echocardiogram results, which focus on the ratio of noncompacted to …
to transthoracic echocardiogram results, which focus on the ratio of noncompacted to …