Hypertrophic Cardiomyopathy Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

MYBPC3-c.772G > A mutation results in haploinsufficiency and altered myosin cycling kinetics in a patient induced stem cell derived cardiomyocyte model of hypertrophic cardiomyopathy
Approximately 40% of hypertrophic cardiomyopathy (HCM) mutations are linked to the sarcomere protein cardiac myosin binding protein-C (cMyBP-C). These mutations are either classified as missense mutations or truncation mutations. One mutation whose nature has been inconsistently reported in the literature is the MYBPC3-c.772G > A mutation. Using patient-derived human induced pluripotent stem cells differentiated to cardiomyocytes (hiPSC-CMs), we have performed a mechanistic study of the structure-function relationship for this MYBPC3-c.772G > A mutation versus a mutation corrected, isogenic cell line. (Source: Journal...
Source: Journal of Molecular and Cellular Cardiology - April 20, 2024 Category: Cytology Authors: Sonette Steczina, Saffie Mohran, Logan R.J. Bailey, Timothy S. McMillen, Kristina B. Kooiker, Neil B. Wood, Jennifer Davis, Michael J. Previs, Iacopo Olivotto, Jos è Manuel Pioner, Michael A. Geeves, Corrado Poggesi, Michael Regnier Source Type: research

Exercise limitation in hypertrophic cardiomyopathy: combined stress echocardiography and cardiopulmonary exercise test
ConclusionsBoth central and peripheral cardiovascular limitations are involved in exercise intolerance in HCM. Diastolic dysfunction seems to be the main driver for this limitation. (Source: ESC Heart Failure)
Source: ESC Heart Failure - April 19, 2024 Category: Cardiology Authors: Yonatan Erez, Eihab Ghantous, Aviel Shetrit, Ryan S. Zamanzadeh, David Zahler, Yoav Granot, Orly Ran Sapir, Michal Laufer Perl, Shmuel Banai, Yan Topilsky, Ofer Havakuk Tags: Original Article Source Type: research

Childhood-onset hypertrophic cardiomyopathy caused by thin-filament sarcomeric variants
This study describes the natural history and outcomes of children with thin-filament-associated HCM and compares it to thick-filament-associated disease. Longitudinal data were collected from 40 children under 18 years with a disease-causing variant in a thin-filament protein from a single quaternary referral centre. Twenty-one (female n=6, 35.5%) were diagnosed with HCM at a median age of 13.0 years (IQR 8.3–14.0). Over a median follow-up of 5.0 years (IQR 4.0–8.5), three (14.3%) experienced one or more major adverse cardiac events (MACE) (two patients had an out-of-hospital arrest and eight appropriate implan...
Source: Journal of Medical Genetics - April 19, 2024 Category: Genetics & Stem Cells Authors: Norrish, G., Gasparini, M., Field, E., Cervi, E., Kaski, J. P. Tags: Open access Genotype-phenotype correlations Source Type: research

Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers
Formin homology 2 domain-containing 3 (FHOD3) gene has emerged as one of the main non-sarcomeric genes associated with hypertrophic cardiomyopathy (HCM), but no cases of biallelic variants associated with disease have been described to date. From 2014 until 2021, FHOD3 was evaluated in our center by next-generation sequencing in 22 806 consecutive unrelated probands. The p.Arg637Gln variant in FHOD3 was enriched in our HCM cohort (284 of 9668 probands; 2.94%) compared with internal controls (64 of 11 480; 0.59%) and gnomAD controls (373 of 64 409; 0.58%), with ORs of 5.40 (95% CI: 4.11 to 7.09) and 5.19 (95% CI: 4.44 to 6....
Source: Journal of Medical Genetics - April 19, 2024 Category: Genetics & Stem Cells Authors: Piqueras-Flores, J., Villacorta-Argüelles, E., Galvin, J., Climent-Paya, V., Escobar-Lopez, L. E., Amor-Salamanca, A., Garcia-Hernandez, S., Esmonde, S., Martinez-Del Rio, J., Soto-Perez, M., Garcia-Pavia, P., Ochoa, J. P. Tags: Genotype-phenotype correlations Source Type: research

Circular RNA circZFPM2 regulates cardiomyocyte hypertrophy and survival
AbstractHypertrophic cardiomyopathy (HCM) constitutes the most common genetic cardiac disorder. However, current pharmacotherapeutics are mainly symptomatic and only partially address underlying molecular mechanisms. Circular RNAs (circRNAs) are a recently discovered class of non-coding RNAs and emerged as specific and powerful regulators of cellular functions. By performing global circRNA-specific next generation sequencing in cardiac tissue of patients with hypertrophic cardiomyopathy compared to healthy donors, we identified circZFPM2 (hsa_circ_0003380). CircZFPM2, which derives from the ZFPM2 gene locus, is a highly ...
Source: Basic Research in Cardiology - April 19, 2024 Category: Cardiology Source Type: research

Intramyocardial calcification in apical hypertrophic cardiomyopathy assessed using multimodality imaging: a case series
We report five cases of ApHCM, with evidence of intramyocardial calcification on echocardiogram. On cardiac magnetic imaging (MRI), a hypointense component at early gadolinium enhancement (EGE) sequences, compatible with calcium, and a deep layer, with hyperintensity at late gadolinium enhancement (LGE) sequences, referable to fibrosis, suggest an endomyocardial fibrosis (EMF) diagnosis. EMF pathologic hallmark is endocardium and myocardium scarring, evolving to dystrophic calcification. It is found only in few ApHCM patients. Our series is the largest one described until now. Analysing patients' history, coexistent inflam...
Source: ESC Heart Failure - April 18, 2024 Category: Cardiology Authors: Ilaria Radano, Barbara Mabritto, Stefania Luceri, Sergio Bongioanni, Francesco Maiellaro, Luca Zappia, Chiara Lario, Annalisa Macera, Stefano Cirillo, Alfredo Pizzuti, Rodolfo Citro, Gennaro Galasso, Giuseppe Musumeci Tags: Case Report Source Type: research

The feasibility of left ventricular strain and strain rate for evaluating patients with risk factors of sudden cardiac death in hypertrophic cardiomyopathy by Feature-tracking Cardiac Magnetic Resonance
Sudden cardiac death (SCD) represents the most severe complication of hypertrophic cardiomyopathy (HCM). However, the relationship between strain, strain rate, and risk factors in SCD risk stratification remains elusive. The study aimed to assess the attenuation of strain and strain rate in HCM by feature-tracking cardiac magnetic resonance (FT-CMR). All strain and strain rates were obtained automatically by FT, with manual adjustment of endocardial and epicardial borders. Strain indicators included left ventricular (LV) global longitudinal (GLS), circumferential (GCS), radial strain (GRS), peak diastolic-longitudinal (PD-...
Source: The American Journal of Cardiology - April 18, 2024 Category: Cardiology Authors: Xinyu Zhu, Yuan Tian, Ying Shi, Jianxiu Lian, Honghu Shen, Lulu Li, Haishan Wu, Pengfei Liu Source Type: research

Calorie restriction anti-hypertrophic effects are associated with improved mitochondrial content, blockage of Ca < sup > 2+ < /sup > -induced mitochondrial damage, and lower reverse electron transport-mediated oxidative stress
In this study, we show that this dietetic intervention prevents cardiac protein elevation, avoids fetal gene reprogramming (atrial natriuretic peptide), and blocks the increase in heart weight per tibia length index (HW/TL) seen in isoproterenol-induced cardiac hypertrophy. Our findings suggest that calorie restriction inhibits cardiac pathological growth while also lowering mitochondrial reverse electron transport-induced hydrogen peroxide formation and improving mitochondrial content. Calorie restriction also attenuated the opening of the Ca2+-induced mitochondrial permeability transition pore. We also found that calorie...
Source: Free Radical Research - April 17, 2024 Category: Research Authors: Aline Maria Brito Lucas Plinio Bezerra Palacio Pedro Lourenzo Oliveira Cunha Heberty Tarso Facundo Source Type: research