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Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy
Clin Genet. 2024 Feb 14. doi: 10.1111/cge.14505. Online ahead of print.ABSTRACTBiallelic disease-causing variants in the ALPK3 gene were first identified in children presenting with a severe cardiomyopathy. More recently, it was shown that carriers of heterozygous ALPK3 null variants are at risk of developing hypertrophic cardiomyopathy (HCM) with an adult onset. Since the number of reported ALPK3 patients is small, the mutational spectrum and clinical data are not fully described. In this multi-centric study, we described the molecular and clinical spectrum of a large cohort of ALPK3 patients. Genetic testing using target...
Source: Clinical Genetics - February 15, 2024 Category: Genetics & Stem Cells Authors: Flavie Ader Guillaume Jedraszak Alexandre Janin Clarisse Billon Nathalie Roux Buisson Adrien Bloch Meriem Bensalah Anachiara De Sandre-Giovannoli Adeline Goudal Luisa Marsili C écile Cazeneuve Philippe Charron Gilles Millat Pascale Richard Cardiogen Fren Source Type: research

Practice guidance for stress echocardiography
AbstractStress echocardiography has been one of the most promising methods for the diagnosis of ischemic heart disease, hypertrophic cardiomyopathy, and pulmonary hypertension. The Japanese Society of Echocardiography produced practical guidance for the implementation of stress echocardiography in 2018. At that time, stress echocardiography was not yet widely disseminated in Japan; therefore, the 2018 practical guidance for the implementation of stress echocardiography included a report on stress echocardiography and a specific protocol to promote its use at many institutions in Japan in the future. And now, an era of rene...
Source: Journal of Echocardiography - February 15, 2024 Category: Cardiology Source Type: research

Electrocardiography deep-learning models to predict high-risk Imaging features in Patients with Hypertrophic Cardiomyopathy: Can It Change Clinical Practice?
Hypertrophic cardiomyopathy (HCM) is the leading cause of sudden cardiac death (SCD) in youth. Cardiac; magnetic resonance imaging (CMR) has been invaluable in improving the risk stratification of these patients for SCD1. Nevertheless, the widespread use of CMR imaging in HCM patients has been limited by high costs, availability, and insufficient insurance coverage in developing countries. (Source: Heart Rhythm)
Source: Heart Rhythm - February 14, 2024 Category: Cardiology Authors: Ghassan Bidaoui, Hadi Younes, Nassir Marrouche Source Type: research

Electrocardiography deep learning models to predict high-risk imaging features in patients with hypertrophic cardiomyopathy: Can it change clinical practice?
Hypertrophic cardiomyopathy (HCM) is the leading cause of sudden cardiac death (SCD) in youth. Cardiac magnetic resonance (CMR) imaging has been invaluable in improving the risk stratification of these patients for SCD.1 Nevertheless, the widespread use of CMR imaging in patients with HCM has been limited by high costs, availability, and insufficient insurance coverage in developing countries. (Source: Heart Rhythm)
Source: Heart Rhythm - February 14, 2024 Category: Cardiology Authors: Ghassan Bidaoui, Hadi Younes, Nassir Marrouche Tags: Editorial Commentary Source Type: research

Reduced plakoglobin increases the risk of sodium current defects and atrial conduction abnormalities in response to androgenic anabolic steroid abuse
In this study, we observed a significantly higher proportion of males who had ARVC compared with females, and atrial arrhythmias and P wave changes represented a common observation in advanced ARVC stages. In mice with reduced plakoglobin expression, chronic administration of 5α-dihydrotestosterone led to P wave abnormalities, atrial conduction slowing, sodium current depletion and a decrease in membrane-localized NaV 1.5 clusters. 5α-Dihydrotestosterone, therefore, represents a stimulus aggravating the pro-arrhythmic phenotype in carriers of desmosomal mutations and can affect atrial electrical function.PMID:38345865 | ...
Source: The Journal of Physiology - February 12, 2024 Category: Physiology Authors: Laura C Sommerfeld Andrew P Holmes Ting Y Yu Christopher O'Shea Deirdre M Kavanagh Jeremy M Pike Thomas Wright Fahima Syeda Areej Aljehani Tania Kew Victor R Cardoso S Nashitha Kabir Claire Hepburn Priyanka R Menon Sophie Broadway-Stringer Molly O'Reilly Source Type: research

Estimating the risk of sudden death in hypertrophic cardiomyopathy might be solved by artificial intelligence
Hypertrophic cardiomyopathy (HCM) is a disease defined by inadequate left ventricular hypertrophy [1]. This disease has several major clinical consequences, the most important of which is an increased risk of sudden cardiac death (SCD). (Source: International Journal of Cardiology)
Source: International Journal of Cardiology - February 12, 2024 Category: Cardiology Authors: Josef Veselka Tags: Editorial Source Type: research

Aggressive treatment of atrial fibrillation in hypertrophic cardiomyopathy patients improve quality of life
(Source: Journal of Cardiovascular Electrophysiology)
Source: Journal of Cardiovascular Electrophysiology - February 9, 2024 Category: Cardiology Authors: Gerald V. Naccarelli, Eric D. Popjes Tags: INVITED EDITORIAL Source Type: research

Downregulation of salusins alleviates hypertrophic cardiomyopathy via attenuating oxidative stress and autophagy
ConclusionsAll these findings suggest that the levels of salusins were elevated in the HCM, and targeting of salusins contributes to alleviation of cardiac hypertrophy and fibrosis probably via attenuating oxidative stress and autophagy. Accordingly, targeting of salusins may be a strategy for HCM therapy. (Source: European Journal of Medical Research)
Source: European Journal of Medical Research - February 9, 2024 Category: Research Source Type: research

Cardiac mri IN diagnosis, prognosis, AND follow-UP OF hypertrophic cardiomyopathy IN children: current perspectives
Br J Radiol. 2024 Feb 8:tqae033. doi: 10.1093/bjr/tqae033. Online ahead of print.ABSTRACTHypertrophic Cardiomyopathy (HCM) is an inherited myocardial disease characterised by left ventricular hypertrophy, which carries an increased risk of life-threatening arrhythmias and sudden cardiac death. The age of presentation and the underlying aetiology have a significant impact on the prognosis and quality of life of children with HCM, as childhood-onset HCM is associated with high mortality risk and poor long-term outcomes. Accurate cardiac assessment and identification of the HCM phenotype are therefore crucial to determine the...
Source: The British Journal of Radiology - February 8, 2024 Category: Radiology Authors: Tessa O M Spaapen Anneloes E Bohte Martijn G Slieker Heynric B Grotenhuis Source Type: research

Left ventricular hypertrophy: hypertensive or hypertrophic cardiomyopathy? What a dilemma! A case report
We present the case of a 46-year-old Afro-American man with poorly controlled hypertension who was found to have severe LVH, and who presented with symptoms of exertional angina during follow-up. We will review the clinical features that can help us in the differential diagnosis in this context.PMID:38330445 | DOI:10.24875/ACM.23000063 (Source: Archivos de Cardiologia de Mexico)
Source: Archivos de Cardiologia de Mexico - February 8, 2024 Category: Cardiology Authors: Albina Aldom à-Balasch Marta Z Zielonka Pedro K Rivera-Aguilar Ram ón Bascompte-Claret Source Type: research

A MYH7 variant in a five-generation-family with hypertrophic cardiomyopathy
Conclusion: Herein, we report a MYH7 variant responsible for HCM. Familial HCM is inherited primarily in autosomal dominant mode, which is in accordance with our study. However, the presented family showed a broad clinical spectrum of HCM. Out of 10 family members with positive genetic testing 8 had severe presentation of the disease and 2 had a mild phenotype. This suggests that the severity of the disease may depend on other factors, most likely genetic. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - February 8, 2024 Category: Genetics & Stem Cells Source Type: research

GSE227734 Single-cell sequencing reveals the cardio-protective role of overexpressing Cox7B in hypertrophic cardiomyopathy
Contributors : Jingyu Wang ; Shi ChenSeries Type : Expression profiling by high throughput sequencingOrganism :Hypertrophic cardiomyopathy (HCM) is an important cause leading to heart failure. Preserving cardiac function particularly in cardiomyocytes (CMs) is essential for improving prognosis in HCM patients. Therefore, understanding single-cell transcriptome characteristics of CMs in HCM would be indispensable to investigate potential therapeutic targets. We applied single-cell tagged reverse transcription (STRT-seq) approach and obtained 338 CM transcriptomes. The human heart samples were collected from HCM patients w...
Source: GEO: Gene Expression Omnibus - February 7, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Source Type: research

Molecules, Vol. 29, Pages 760: Chlorogenic Acid Attenuates Isoproterenol Hydrochloride-Induced Cardiac Hypertrophy in AC16 Cells by Inhibiting the Wnt/ & beta;-Catenin Signaling Pathway
This study established a CH model by stimulating AC16 cells with isoproterenol (Iso). The observed significant decrease in cell surface area, evaluated through fluorescence staining, along with the downregulation of CH-related markers, including atrial natriuretic peptide (ANP), brain natriuretic peptide (BNP), and &beta;-myosin heavy chain (&beta;-MHC) at both mRNA and protein levels, provide compelling evidence of the protective effect of CGA against isoproterenol-induced CH. Mechanistically, CGA induced the expression of glycogen synthase kinase 3&beta; (GSK-3&beta;) while concurrently at...
Source: Molecules - February 7, 2024 Category: Chemistry Authors: Kai He Xiaoying Wang Tingting Li Yanfei Li Linlin Ma Tags: Article Source Type: research

Emerging antioxidant therapies in Friedreich ’s ataxia
Friedreich’s ataxia (FRDA) is a rare childhood neurologic disorder, affecting 1 in 50,000 Caucasians. The disease is caused by the abnormal expansion of the GAA repeat sequence in intron 1 of the FXN gene, leading to the reduced expression of the mitochondrial protein frataxin. The disease is characterised by progressive neurodegeneration, hypertrophic cardiomyopathy, diabetes mellitus and musculoskeletal deformities. The reduced expression of frataxin has been suggested to result in the downregulation of endogenous antioxidant defence mechanisms and mitochondrial bioenergetics, and the increase in mitochondrial iron acc...
Source: Frontiers in Pharmacology - February 6, 2024 Category: Drugs & Pharmacology Source Type: research

Re-evaluating the Incidence and Prevalence of Clinical Hypertrophic Cardiomyopathy
To contemporaneously reappraise the incidence-rate, prevalence, and natural history of hypertrophic cardiomyopathy (HCM) in Olmsted County, Minnesota, from 1984 to 2015. (Source: Mayo Clinic Proceedings)
Source: Mayo Clinic Proceedings - February 6, 2024 Category: Internal Medicine Authors: Shahid Karim, C. Anwar A. Chahal, Akil A. Sherif, Mohammed Y. Khanji, Christopher G. Scott, Alanna M. Chamberlain, Jeffrey B. Geske, Steve R. Ommen, Bernard J. Gersh, Virend K. Somers, Peter A. Brady, Grace Lin Tags: Original Article Source Type: research