A burden of sarcomere gene variants in fetal-onset patients with left ventricular noncompaction

K Hirono, Y Hata, SW Ozawa, T Toda, N Momoi… - International Journal of …, 2021 - Elsevier
… by variants in sarcomere and cytoskeletal proteins as shown in … genetic backgrounds and
high prevalence of sarcomere … useful tools for analyzing specific mutations, however, typically, …

Genetic basis of left ventricular noncompaction

P Rojanasopondist, L Nesheiwat… - Circulation: Genomic …, 2022 - Am Heart Assoc
… One recent systematic review reported that 292 (52%) of the 561 genetic LVNC patients
they identified had carried a sarcomere-related mutation. The next 2 most common gene

[HTML][HTML] Left ventricular noncompaction− Risk stratification and genetic consideration−

F Ichida - Journal of Cardiology, 2020 - Elsevier
… , for mutations in seven genes encoding sarcomere proteins, … Sarcomere genes are implicated
as genetic triggers in the … expression of numerous genes involved in heart development, …

Left ventricular noncompaction

YM Hoedemaekers, T Germans - Clinical Cardiogenetics, 2020 - Springer
Mutations in sarcomere genes may exert their effect … the mutant protein acts as a “poison
polypeptide” or by haplo-insufficiency resulting in less protein); mutated cytoskeletal proteins

Genetic spectrum of left ventricular non-compaction in paediatric patients

T Vershinina, Y Fomicheva, A Muravyev, J Jorholt… - Cardiology, 2020 - karger.com
sarcomeric gene mutations. However, mutations in cytoskeletal and ion channel-encoding
genes as well as in genes … patients with left ventricular noncompaction reveals a large genetic

Left ventricular noncompaction syndrome: genetic insights and therapeutic perspectives

J Finsterer, C Stöllberger - Current Cardiology Reports, 2020 - Springer
… In a comprehensive review of 172 studies on the genotype - phenotype correlation in LVHT
patients mutations in sarcomere genes such as MYH7, ACTC1, MYBPC3, and TTN were the …

[HTML][HTML] A novel mutation in the TTN gene resulted in left ventricular noncompaction: a case report and literature review

S Tian, H Liang, X Li, B Cao, L Feng… - BMC Cardiovascular …, 2023 - Springer
protein genes are the most common pathogenic genes [12]. Relevant studies have confirmed
that the sarcomere protein genes … titin gene (TTN) belongs to the sarcomere protein genes

[HTML][HTML] Left ventricular noncompaction in children: the role of genetics, morphology, and function for outcome

S Klaassen, J Kühnisch, A Schultze-Berndt… - Journal of …, 2022 - mdpi.com
… Single missense mutations in sarcomere genes were the main causes for the phenotype,
and 48% of the of the sarcomere mutations were in MYH7 [32]. MYH7 and ACTC1 mutations

[HTML][HTML] A novel missense variant in actin binding domain of MYH7 is associated with left ventricular noncompaction

M Hesaraki, U Bora, S Pahlavan, N Salehi… - Frontiers in …, 2022 - frontiersin.org
… Leu655Met mutation of the protein structure was induced by the psfgen … Genetic screening
of LVNC patients has identified several variations in genes encoding for sarcomeric proteins

[HTML][HTML] … left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation

Y Lin, J Huang, Z Zhu, Z Zhang, J Xian, Z Yang… - Orphanet Journal of …, 2021 - Springer
… A previous genetic study indicated that the mutations of genes encoding sarcomeric proteins
account for up to 30% of LVNC [7]. Other common mutations of genes encoding cytoskeletal…