Current and emerging perspectives on pathophysiology, diagnosis, and management of hypertrophic cardiomyopathy

Gartzonikas, Ilias K.; Naka, Katerina K.; Anastasakis, Aris

doi:10.1016/j.hjc.2022.11.002

Cited by 9 publications

(4 citation statements)

References 73 publications

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“…An echocardiogram is diagnostic if it shows asymmetric left ventricular wall hypertrophy in diastole greater than 15 mm in a non-dilated ventricle. In first-degree relatives, the threshold is lower at 13 mm for screening and early diagnosis (Gartzonikas et al., 2022). The ECHO may show left ventricular outflow tract obstruction (LVOTO), systolic anterior motion (SAM) of the mitral valve, MR and left atrial dilation.…”

Section: Hypertrophic Cardiomyopathymentioning

confidence: 99%

Cardiomyopathy

Ullah

2023

InnovAiT: Education and inspiration for general practice

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Cardiomyopathy is a heart muscle disorder that cannot be attributed to ischemic heart disease or abnormal loading conditions such as hypertension and valvular heart disease. It can lead to the development of arrhythmia and heart failure, and is also the leading cause of sudden cardiac death in young people. Early detection is vital for delaying or preventing complications. This review discusses the four major subtypes, i.e. hypertrophic, dilated, restricted, and arrhythmogenic cardiomyopathy, which are likely to be encountered in primary care.

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Section: Hypertrophic Cardiomyopathymentioning

confidence: 99%

Cardiomyopathy

Ullah

2023

InnovAiT: Education and inspiration for general practice

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“…Hypertrophic cardiomyopathy (HCM), a complex cardiovascular genetic disorder, is reported in one out of every 500 individuals worldwide [1,2]. In recent years, awareness of HCM has significantly improved in clinical settings [3,4]. However, HCM diagnosis is still a complex process, just like other diseases including asthma, mitral regurgitation, and coronary artery dis-Am J Transl Res 2024; 16(2):637-653 ease, resulting in a high mortality rate [5].…”

Section: Introductionmentioning

confidence: 99%

Transcriptomics data integration and analysis to uncover hallmark genes in hypertrophic cardiomyopathy

Chen

2024

Am J Transl Res

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Introduction: Hypertrophic cardiomyopathy (HCM) is a heterogeneous disease that mainly affects the myocardium. In the current study, we aim to explore HCM-related hub genes through the analysis of differentially expressed genes (DEGs) between HCM and normal sample groups. Methods: The GSE68316 and GSE36961 expression profiles were obtained from the Gene Expression Omnibus (GEO) database for the identification of DEGs, to explore hub genes, and to perform their expression analysis. Clinical HCM and control tissue samples were taken for expression and promoter methylation validation analysis via RNA-sequencing (RNA-seq) and targeted bisulfite sequencing (bisulfite-seq) analyses. Then, other different bioinformatics tools were employed to perform STRING, lncRNA-miRNA-mRNA regulatory networks, gene enrichment, and drug prediction analyses. Results: In total, the top 20 DEGs, including 10 up-regulated and 10 down-regulated, were obtained from GSE68316. Out of the 20 DEGs, we subsequently identified the 8 most important hub genes including 5 up-regulated genes (EPB42, UQCRH, CA1, PFDN5, and LSM5) and 3 down-regulated genes (RPS24, TNS1, and RPL26). Expression and promoter methylation dysregulation of these genes were further validated on clinical HCM samples paired with controls. Next, we further investigated hub genes' regulatory 6 miRNAs (has-mir-1-3p, has-mir-129-5p, has-mir-16-5p, has-mir-23b-3p, hasmir-27-3p, and has-mir-182-5p) and miRNAs regulatory 4 lncRNAs (NUTMB2-AS1, NEAT1, XIST, and GABPB1-AS1) in this study via the lncRNA-cricRNA-miRNA-mRNA regulatory network. Later on, gene enrichment analysis revealed that hub genes were enriched in various important pathways including Nitrogen metabolism, Ribosome, RNA degradation, Cardiac muscle contraction, and Coronavirus disease, etc. Finally, the drug prediction analysis highlighted different potential candidate drugs for altering the expression of hub genes in the treatment of HCM. Conclusion: In summary, the identification of key hub genes and their enrichment analysis in the current study may shed light on the mechanisms behind the occurrence and development of HCM.

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“…They found that 14% of the population had experienced syncope, and demonstrated a recent syncope occurring within 6 months was associated with a five-fold increased risk of sudden death as compared to those who did not experience syncope. Syncope in HOCM patients is primarily attributed to the dynamic left ventricular outflow tract (LVOT) obstruction, atrial and ventricular tachy-arrhythmias, and abnormal cardiac and vascular reflexes 4 .…”

Section: Introductionmentioning

confidence: 99%

Percutaneous endocardial septal radiofrequency ablation on syncope in patients with hypertrophic obstructive cardiomyopathy：a short-term safety and efficacy study

Tian,

Zhang,

Jia

et al. 2024

Annals of Medicine &Amp; Surgery

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Background: Syncope is a serious consequence in patients with hypertrophic obstructive cardiomyopathy (HOCM). Percutaneous endocardial septal radiofrequency ablation (PESA) has emerged as a promising intervention to alleviate symptoms and enhance the quality of life for HOCM patients. However, little is known about the effects of PESA on syncope in HOCM. We aimed to study the effects of PESA on syncope in patients with HOCM. Materials and Methods: Nineteen patients with HOCM and syncope were enrolled. The left ventricular outflow tract gradient (LVOTG) of the patients was more than 50 mmHg despite medication. The participants underwent PESA under the guidance of intracardiac echocardiography (ICE) combined with a three-dimensional electrophysiological mapping system. The patients were followed for 3 (3-5.5) months. Results: The mean age of the patients was 54.8±13.7 years. Out of the 19 participants, 7 (37%) were females. During the follow-up, the syncope was completely alleviated in 14 patients (73.7%) or the syncope episodes were reduced ≥ 80% in 16 patients (84.2%). The mean NYHA functional class significantly improved from 2.2±0.7 at baseline to 1.7±0.6 during follow-up (P=0.002).The LVOTG and septal thickness showed a decreasing trend from baseline to follow-up (LVOTG: P=0.083, septal thickness: P=0.086). Conclusion: Our investigation provides evidence supporting the effectiveness of PESA in reducing syncope episodes in patients with HOCM.

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Current and emerging perspectives on pathophysiology, diagnosis, and management of hypertrophic cardiomyopathy

Cited by 9 publications

References 73 publications

Cardiomyopathy

Cardiomyopathy

Transcriptomics data integration and analysis to uncover hallmark genes in hypertrophic cardiomyopathy

Percutaneous endocardial septal radiofrequency ablation on syncope in patients with hypertrophic obstructive cardiomyopathy：a short-term safety and efficacy study

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