Misconceptions and Facts About Hypertrophic Cardiomyopathy

Argulian, Edgar; Sherrid, Mark V.; Messerli, Franz H.

doi:10.1016/j.amjmed.2015.07.035

Cited by 23 publications

(16 citation statements)

References 25 publications

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“…HCM is one of the most common genetically inherited cardiomyopathies and is linked to ventricular and septum hypertrophy caused by hypertrophic CMs and fibrosis, resulting in decreased cardiac function ( Wexler et al, 2009 ; Argulian et al, 2016 ). Hypertrophy of CMs is due to mutations in the genes responsible for sarcomere function, such as myosin heavy chains (MYH6, MYH7), myosin binding protein C (MYBPC3), troponin I (TNNT2, TNNT3), and tropomyosin-α-1 chain (TMP1) ( Girolami et al, 2010 ; Sisakian, 2014 ).…”

Section: Hipsc Applications For Cardiovascular Researchmentioning

confidence: 99%

Human iPSCs and Genome Editing Technologies for Precision Cardiovascular Tissue Engineering

Gähwiler

Motta

Martin

et al. 2021

Front. Cell Dev. Biol.

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Induced pluripotent stem cells (iPSCs) originate from the reprogramming of adult somatic cells using four Yamanaka transcription factors. Since their discovery, the stem cell (SC) field achieved significant milestones and opened several gateways in the area of disease modeling, drug discovery, and regenerative medicine. In parallel, the emergence of clustered regularly interspaced short palindromic repeats (CRISPR)-associated protein 9 (CRISPR-Cas9) revolutionized the field of genome engineering, allowing the generation of genetically modified cell lines and achieving a precise genome recombination or random insertions/deletions, usefully translated for wider applications. Cardiovascular diseases represent a constantly increasing societal concern, with limited understanding of the underlying cellular and molecular mechanisms. The ability of iPSCs to differentiate into multiple cell types combined with CRISPR-Cas9 technology could enable the systematic investigation of pathophysiological mechanisms or drug screening for potential therapeutics. Furthermore, these technologies can provide a cellular platform for cardiovascular tissue engineering (TE) approaches by modulating the expression or inhibition of targeted proteins, thereby creating the possibility to engineer new cell lines and/or fine-tune biomimetic scaffolds. This review will focus on the application of iPSCs, CRISPR-Cas9, and a combination thereof to the field of cardiovascular TE. In particular, the clinical translatability of such technologies will be discussed ranging from disease modeling to drug screening and TE applications.

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Section: Hipsc Applications For Cardiovascular Researchmentioning

confidence: 99%

Human iPSCs and Genome Editing Technologies for Precision Cardiovascular Tissue Engineering

Gähwiler

Motta

Martin

et al. 2021

Front. Cell Dev. Biol.

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“…2D, 2E & 2F: sarcoglycanopathies; LGMD2I: mutation of fukutin-related protein gene; 19q), Rarely autosomal dominant (LGDM1; 1B due to mutation of the LMNA gene encoding lamin A/C), and Myotonic Dystrophy (DM) is autosomal dominant: type 1 (DM1, Steinert's disease): unstable expansion of CTG the myotonic dystrophy protein kinase gene (DMPK) on chromosome 19q13.3, type 2 (DM2): CCTG tetranucleotide repeat expansion in intron 1 of the zinc finger protein 9 gene (ZNF9) on chromosome 3q21.3 [63]. Almost all DMD patients develop cardiomyopathy early on, on the other hand, symptom progression in BMD patients is slow but may present with severe heart failure [64,65]. Cardiomyopathy in EDMD patients develops in the same way as that of DMD patients [ 66].…”

Section: Cardiomyopathy In Muscular Dystrophymentioning

confidence: 99%

“…Hypertrophic cardiomyopathy (HCM) is the common primary cardiomyopathy, with a prevalence of 1:500 persons [64]. It is defined as left ventricular hypertrophy without chamber dilation and is caused by gene mutations that encode 8 sarcomere proteins: beta-myosin heavy chain (MYH7), cardiac myosin-binding protein C (MYPBC3), cardiac troponin T (TNNT2), cardiac troponin I (TNNI3), cardiac actin (ACTC), alpha-tropomyosin (TPM1), essential myosin light chain (MYL3) and regulatory myosin light chain (MYL2) [70].…”

Section: Hypertrophic Cardiomyopathy (Hcm)mentioning

confidence: 99%

“…All patients with HCM should undergo risk stratification for SCD and be evaluated for placement of an implantable cardioverter-defibrillator [69]. Additionally, these devices are recommended for secondary prevention of SCD when there is any personal history of ventricular fibrillation or sustained ventricular tachycardia [64]. Although the main goals of therapy in HCM patients are to decrease exertional dyspnea and chest pain and prevent SCD, about 25% of HCM patients achieve normal longevity.…”

Section: Hypertrophic Cardiomyopathy (Hcm)mentioning

confidence: 99%

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Cardiomyopathy: Recent Findings

Yamada¹,

Sugi²,

Nakajima³

et al. 2021

Cardiomyopathy - Disease of the Heart Muscle

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In 1957, Wallace Brigden published an article on the Lancet, such as uncommon myocardial diseases: the non-coronary cardiomyopathy. In this article, he mentioned that “the term cardiomyopathy is used here to indicate isolated noncoronary myocardial disease.” Then “cardiomyopathy” has become a commonly used term in the cardiovascular field, and has been defined and classified by many researchers and academic societies. The basic concept of cardiomyopathy is a group of diseases with mechanical and/or electrophysiological dysfunction of the ventricles, and cardiomyopathy is distinguished with normal ischemic heart disease, valvular disease, and hypertensive heart disease. It can often cause heart failure and cardiac death. In this chapter, we describe the classification, details, and treatment of cardiomyopathy, and iPS cell from pathological myocardium.

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“…Recently, great progress has been made in diagnosis and treatment selection, and the awareness of the disease has been improved in clinical practice (3). However, the diagnosis of HCM is often misdiagnosed as asthma, anxiety, mitral valve prolapse and coronary artery disease (4). HCM is easy to cause angina, heart failure and arrhythmia, which is the most terrible complication of HCM and the most common cause of sudden cardiac death in young people (5,6).…”

Section: Introductionmentioning

confidence: 99%

Dysfunctional network and mutation genes of hypertrophic cardiomyopathy

Cui

Liu

Liang

2020

Preprint

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Background Hypertrophic cardiomyopathy (HCM) is a group of heterogeneous diseases that affect the myocardium. It is also a common familial disease. The symptoms are not common and easy to find. Methods In this study, gene expression profiles of 37 samples (GSE130036) were downloaded from GEO database. Differential analysis was used to identify the related dysregulated genes in patients with HCM. Enrichment analysis identified the biological function and signal pathway of these differentially expressed genes. Then, we build PPI network and verify it in GSE36961 dataset. Finally, the gene of single nuclear variants (SNVs) in HCM samples was screened by means of maftools. Results Herein, we obtained 920 differentially expressed genes, and found that these genes are mainly related to metabolic related signaling pathways. 187 interacting genes were identified by PPI network analysis, and the expression trends of C1QB, F13A1, CD163, FCN3, PLA2G2A and CHRDL2 were verified by another dataset. ROC curve analysis showed that they had certain clinical diagnostic ability, and they were the potential key dysfunctional genes of HCM. In addition, we found that PRMT5 mutation was the most frequent in HCM samples, which may affect the pathogenesis of HCM. Conclusions Therefore, the key genes and enrichment results identified by our analysis may provide a reference for the occurrence and development mechanism of HCM. In addition, mutations in PRMT5 may be a useful therapeutic and diagnostic target for HCM.

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Misconceptions and Facts About Hypertrophic Cardiomyopathy

Cited by 23 publications

References 25 publications

Human iPSCs and Genome Editing Technologies for Precision Cardiovascular Tissue Engineering

Human iPSCs and Genome Editing Technologies for Precision Cardiovascular Tissue Engineering

Cardiomyopathy: Recent Findings

Dysfunctional network and mutation genes of hypertrophic cardiomyopathy

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