Myocardial inflammation as a manifestation of genetic cardiomyopathies: from bedside to the bench

G Peretto, E Sommariva, C Di Resta, M Rabino… - Biomolecules, 2023 - mdpi.com
Over recent years, preclinical and clinical evidence has implicated myocardial inflammation
(M-Infl) in the pathophysiology and phenotypes of traditionally genetic cardiomyopathies. M …

What causes hypertrophic cardiomyopathy?

BA Maron, RS Wang, MR Carnethon, EJ Rowin… - The American journal of …, 2022 - Elsevier
Hypertrophic cardiomyopathy (HCM) is a global and relatively common cause of patient
morbidity and mortality and is among the first reported monogenic cardiac diseases. For 30 …

Human engineered cardiac tissue model of hypertrophic cardiomyopathy recapitulates key hallmarks of the disease and the effect of chronic mavacamten treatment

K Wang, BJ Schriver, R Aschar-Sobbi, AY Yi… - … in Bioengineering and …, 2023 - frontiersin.org
Introduction: The development of patient-specific induced pluripotent stem cell-derived
cardiomyocytes (iPSC-CMs) offers an opportunity to study genotype-phenotype correlation …

Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in …

S Nakhaei-Rad, F Haghighi, F Bazgir… - Communications …, 2023 - nature.com
Noonan syndrome (NS), the most common among RASopathies, is caused by germline
variants in genes encoding components of the RAS-MAPK pathway. Distinct variants …

Gene therapy for cardiac diseases: methods, challenges, and future directions

L Grisorio, R Bongianino, M Gianeselli… - Cardiovascular …, 2024 - academic.oup.com
Gene therapy is advancing at an unprecedented pace, and the recent success of clinical
trials reinforces optimism and trust among the scientific community. Recently, the cardiac …

Mitochondrial proteins as therapeutic targets in diabetic ketoacidosis: evidence from Mendelian randomization analysis

R Xie, H Xie, H Gao, C Xie, H Yuan… - Frontiers in …, 2024 - frontiersin.org
Introduction Diabetic ketoacidosis (DKA) is a severe and potentially fatal acute complication
in diabetic patients, commonly occurring in type 1 diabetes (T1D) but also seen in type 2 …

Incomplete-penetrant hypertrophic cardiomyopathy MYH7 G256E mutation causes hypercontractility and elevated mitochondrial respiration

S Lee, AS Vander Roest, CA Blair… - Proceedings of the …, 2024 - National Acad Sciences
Determining the pathogenicity of hypertrophic cardiomyopathy–associated mutations in the
β-myosin heavy chain (MYH7) can be challenging due to its variable penetrance and clinical …

Identification of potential diagnostic biomarkers and biological pathways in hypertrophic cardiomyopathy based on bioinformatics analysis

T Yu, Z Huang, Z Pu - Genes, 2022 - mdpi.com
Hypertrophic cardiomyopathy (HCM) is a genetic heterogeneous disorder and the main
cause of sudden cardiac death in adolescents and young adults. This study was aimed at …

Ventricular arrhythmia and sudden cardiac death in hypertrophic cardiomyopathy: From bench to bedside

H Shen, SY Dong, MS Ren, R Wang - Frontiers in cardiovascular …, 2022 - frontiersin.org
Patients with hypertrophic cardiomyopathy (HCM) mostly experience minimal symptoms
throughout their lifetime, and some individuals have an increased risk of ventricular …

Circulating MicroRNAs identify early phenotypic changes in sarcomeric hypertrophic cardiomyopathy

CC Sucharov, B Neltner, AE Pietra… - Circulation: Heart …, 2023 - Am Heart Assoc
Background: Hypertrophic cardiomyopathy (HCM) is the most common genetic
cardiomyopathy. Pathogenic germline variation in genes encoding the sarcomere is the …