Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675 individuals
F Sedaghat-Hamedani, E Kayvanpour… - Clinical Research in …, 2018 - Springer
Background Hypertrophic cardiomyopathy (HCM) is the most common genetic
cardiovascular disease, which goes along with increased risk for sudden cardiac death …
cardiovascular disease, which goes along with increased risk for sudden cardiac death …
Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature
PMR Cruz, C Sewry, D Beeson, S Jayawant… - Neuromuscular …, 2014 - Elsevier
Congenital myopathies are a clinically and genetically heterogeneous group of disorders
characterized by early onset hypotonia, weakness and characteristic, but not …
characterized by early onset hypotonia, weakness and characteristic, but not …
Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing
J Gómez, JR Reguero, C Morís, M Martín… - Circulation …, 2014 - jstage.jst.go.jp
Background: Mutations in at least 30 genes have been linked to hypertrophic
cardiomyopathy (HCM). Due to the large size of the main HCM genes, Sanger sequencing is …
cardiomyopathy (HCM). Due to the large size of the main HCM genes, Sanger sequencing is …
Heart Failure Progression in Hypertrophic Cardiomyopathy–Possible Insights From Cardiopulmonary Exercise Testing–
D Magrì, F Re, G Limongelli, P Agostoni… - Circulation …, 2016 - jstage.jst.go.jp
Background: Heart failure (HF) progression and its complications represent major emergent
concerns in hypertrophic cardiomyopathy (HCM). We investigated the possible adjunctive …
concerns in hypertrophic cardiomyopathy (HCM). We investigated the possible adjunctive …
Investigation of pathogenic genes in Chinese sporadic hypertrophic cardiomyopathy patients by whole exome sequencing
J Xu, Z Li, X Ren, M Dong, J Li, X Shi, Y Zhang, W **e… - Scientific reports, 2015 - nature.com
Hypertrophic cardiomyopathy (HCM) is a cardiovascular disease with high heterogeneity.
Limited knowledge concerning the genetic background of nearly 40% HCM cases indicates …
Limited knowledge concerning the genetic background of nearly 40% HCM cases indicates …
Myocardial shortening in 3 orthogonal directions and its transmural variation in patients with nonobstructive hypertrophic cardiomyopathy
K Okada, S Yamada, H Iwano, H Nishino… - Circulation …, 2015 - jstage.jst.go.jp
Background: Although longitudinal strain (LS) is known to be reduced in patients with
hypertrophic cardiomyopathy (HCM), it has not been elucidated whether or not …
hypertrophic cardiomyopathy (HCM), it has not been elucidated whether or not …
Recessive MYH7-related myopathy in two families
Myopathies due to recessive MYH7 mutations are exceedingly rare, reported in only two
families to date. We describe three patients from two families (from Australia and the UK) …
families to date. We describe three patients from two families (from Australia and the UK) …
Sorafenib reduces the production of epoxyeicosatrienoic acids and leads to cardiac injury by inhibiting CYP2J in rats
Y Zhang, B Yao, Y Guo, S Huang, J Liu, Y Zhang… - Biochemical …, 2024 - Elsevier
Sorafenib, an important cancer drug in clinical practice, has caused heart problems such as
hypertension, myocardial infarction, and thrombosis. Although some mechanisms of …
hypertension, myocardial infarction, and thrombosis. Although some mechanisms of …
Dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 genes in a three-generation Chinese …
L Wang, L Zuo, J Hu, H Shao, C Lei, W Qi, Y Liu… - Europace, 2016 - academic.oup.com
Aims Hypertrophic cardiomyopathy (HCM) mainly results from autosomal-dominant inherited
single heterozygous mutations in cardiac sarcomere genes. Contributions of multiple gene …
single heterozygous mutations in cardiac sarcomere genes. Contributions of multiple gene …
Founder mutation in myosin-binding protein C with an early onset and a high penetrance in males
I Méndez, AI Fernández, MÁ Espinosa, S Cuenca… - Open …, 2021 - openheart.bmj.com
Objective One of the challenges in hypertrophic cardiomyopathy (HCM) is to determine the
pathogenicity of genetic variants and to establish genotype/phenotype correlations. This …
pathogenicity of genetic variants and to establish genotype/phenotype correlations. This …