21,511 results match your criteria Cardiomyopathy Hypertrophic

A computational pipeline for data augmentation towards the improvement of disease classification and risk stratification models: A case study in two clinical domains.

Comput Biol Med 2021 Jun 6;134:104520. Epub 2021 Jun 6.

Unit of Medical Technology and Intelligent Information Systems, Department of Materials Science and Engineering, University of Ioannina, Ioannina, GR45110, Greece; Department of Biomedical Research, FORTH-IMBB, Ioannina, GR45110, Greece. Electronic address:

Virtual population generation is an emerging field in data science with numerous applications in healthcare towards the augmentation of clinical research databases with significant lack of population size. However, the impact of data augmentation on the development of AI (artificial intelligence) models to address clinical unmet needs has not yet been investigated. In this work, we assess whether the aggregation of real with virtual patient data can improve the performance of the existing risk stratification and disease classification models in two rare clinical domains, namely the primary Sjögren's Syndrome (pSS) and the hypertrophic cardiomyopathy (HCM), for the first time in the literature. Read More

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Hypertrophic cardiomyopathy β-cardiac myosin mutation (P710R) leads to hypercontractility by disrupting super relaxed state.

Proc Natl Acad Sci U S A 2021 Jun;118(24)

Department of Pediatrics (Cardiology), Stanford University School of Medicine, Palo Alto, CA 94304;

Hypertrophic cardiomyopathy (HCM) is the most common inherited form of heart disease, associated with over 1,000 mutations, many in β-cardiac myosin (MYH7). Molecular studies of myosin with different HCM mutations have revealed a diversity of effects on ATPase and load-sensitive rate of detachment from actin. It has been difficult to predict how such diverse molecular effects combine to influence forces at the cellular level and further influence cellular phenotypes. Read More

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Symptomatic Val122del mutated hereditary transthyretin amyloidosis: Need for early diagnosis and prioritization for heart and liver transplantation.

Hepatobiliary Pancreat Dis Int 2021 May 27. Epub 2021 May 27.

Institute for Experimental and Clinical Research (IREC), Catholic University of Louvain (UCL), Avenue Hippocrate 55, Brussels 1200, Belgium. Electronic address:

Background Hereditary transthyretin (ATTRv) amyloidosis is an autosomal dominant disease linked to transthyretin gene mutations which cause instability of the transthyretin tetramer. After dissociation and misfolding they reassemble as insoluble fibrils (i.e. Read More

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Transthoracic Echocardiography: Beginner's Guide with Emphasis on Blind Spots as Identified with CT and MRI.

Radiographics 2021 Jun 11:200142. Epub 2021 Jun 11.

From the Departments of Radiology (M.D.G., R.D.M., S.D.K., R.M.B., J.D.M., D.W.G., E.A.R.) and Cardiology (J.M.R.), Madigan Army Medical Center, 9040 Jackson Ave, Tacoma, WA 98431; and the Uniformed Services University of the Health Sciences, Bethesda, Md (M.D.G., J.M.R., D.W.G., E.A.R.).

Transthoracic echocardiography (TTE) is the primary initial imaging modality in cardiac imaging. Advantages include portability, safety, availability, and ability to assess the morphology and physiology of the heart in a noninvasive manner. Because of this, many patients who undergo advanced imaging with CT or MRI will have undergone prior TTE, particularly when cardiac CT angiography or cardiac MRI is performed. Read More

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Etiology-Discriminative Multimodal Imaging of Left Ventricular Hypertrophy and Synchrotron-Based Assessment of Microstructural Tissue Remodeling.

Front Cardiovasc Med 2021 25;8:670734. Epub 2021 May 25.

Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.

Distinguishing the etiology of left ventricular hypertrophy (LVH) is clinically relevant due to patient outcomes and management. Easily obtained, echocardiography-based myocardial deformation patterns may improve standard non-invasive phenotyping, however, the relationship between deformation phenotypes and etiology-related, microstructural cardiac remodeling has not been reported. Synchrotron radiation-based X-ray phase-contrast imaging (X-PCI) can provide high resolution, three-dimensional (3D) information on myocardial microstructure. Read More

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Towards precision medicine in heart failure.

Nat Rev Cardiol 2021 Jun 9. Epub 2021 Jun 9.

Department of Medicine, Division of Cardiology, Stanford University, Palo Alto, CA, USA.

The number of therapies for heart failure (HF) with reduced ejection fraction has nearly doubled in the past decade. In addition, new therapies for HF caused by hypertrophic and infiltrative disease are emerging rapidly. Indeed, we are on the verge of a new era in HF in which insights into the biology of myocardial disease can be matched to an understanding of the genetic predisposition in an individual patient to inform precision approaches to therapy. Read More

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Loperamide Toxicity Revealing Apical Hypertrophic Cardiomyopathy.

Methodist Debakey Cardiovasc J 2021 Apr 25;17(1):65-67. Epub 2021 Mar 25.

Houston Methodist DeBakey Heart & Vascular Center, Houston Methodist Hospital, Houston, Texas.

Loperamide, a μ-opioid receptor agonist, can cause cardiotoxicity by inhibiting the potassium ion channel and slowing cardiomyocyte repolarization. This, in turn, can lead to frequent early afterdepolarizations, the most common mechanism of drug-induced long QT syndrome and torsades de pointes. Apical hypertrophic cardiomyopathy (AHCM) is a nonobstructive hypertrophic cardiomyopathy rarely associated with malignant arrhythmias. Read More

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PKM1 Exerts Critical Roles in Cardiac Remodeling Under Pressure Overload in the Heart.

Circulation 2021 Jun 9. Epub 2021 Jun 9.

Division of Cardiology, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX.

Metabolic remodeling precedes most alterations during cardiac hypertrophic growth under hemodynamic stress. The elevation of glucose utilization has been recognized as a hallmark of metabolic remodeling. However, its role in cardiac hypertrophic growth and heart failure in response to pressure overload remains to be fully illustrated. Read More

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Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.

J Biol Chem 2021 Jun 4:100854. Epub 2021 Jun 4.

Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain. Electronic address:

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Variants in MYBPC3, the gene encoding cardiac myosin-binding protein C (cMyBP-C), are the leading cause of HCM. However, the pathogenicity status of hundreds of MYBPC3 variants found in patients remains unknown, as a consequence of our incomplete understanding of the pathomechanisms triggered by HCM-causing variants. Read More

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Mitochondrial mistranslation modulated by metabolic stress causes cardiovascular disease and reduced lifespan.

Aging Cell 2021 Jun 7:e13408. Epub 2021 Jun 7.

Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia.

Changes in the rate and fidelity of mitochondrial protein synthesis impact the metabolic and physiological roles of mitochondria. Here we explored how environmental stress in the form of a high-fat diet modulates mitochondrial translation and affects lifespan in mutant mice with error-prone (Mrps12 ) or hyper-accurate (Mrps12 ) mitochondrial ribosomes. Intriguingly, although both mutations are metabolically beneficial in reducing body weight, decreasing circulating insulin and increasing glucose tolerance during a high-fat diet, they manifest divergent (either deleterious or beneficial) outcomes in a tissue-specific manner. Read More

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Exosomally derived Y RNA fragment alleviates hypertrophic cardiomyopathy in transgenic mice.

Mol Ther Nucleic Acids 2021 Jun 20;24:951-960. Epub 2021 Apr 20.

Smidt Heart Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.

Cardiosphere-derived cell exosomes (CDC) and YF1, a CDC-derived non-coding RNA, elicit therapeutic bioactivity in models of myocardial infarction and hypertensive hypertrophy. Here we tested the hypothesis that YF1, a 56-nucleotide Y RNA fragment, could alleviate cardiomyocyte hypertrophy, inflammation, and fibrosis associated with hypertrophic cardiomyopathy (HCM) in transgenic mice harboring a clinically relevant mutation in cardiac troponin I (cTnI). By quantitative PCR, YF1 was detectable in bone marrow, spleen, liver, and heart 30 min after intravenous (i. Read More

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Predicting inappropriate S-ICD® episodes by simple 12-lead surface ECG parameters.

J Electrocardiol 2021 May 27;67:89-93. Epub 2021 May 27.

Department of Cardiology II - Electrophysiology, University Hospital Muenster, Muenster, Germany. Electronic address:

Aims: The present study aims at analyzing the role of a preimplantation 12-lead electrocardiogram (ECG) on the prediction of inappropriate S-ICD® episodes.

Methods: N=116 screened patients (pts) with an S-ICD® and a follow-up of at least 6 months were included. A preimplantation 12-lead ECG (50 mm/s, 10 mm/mV) was analyzed with regard to QRS and T-wave amplitude, T wave concordance or discordance and QRS/T wave ratio in all 12 leads. Read More

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Circulating Levels of MicroRNAs in Hypertrophic Cardiomyopathy: The Relationship With Left Ventricular Hypertrophy, Left Atrial Dilatation and Ventricular Depolarisation-Repolarisation Parameters.

Heart Lung Circ 2021 Jun 1. Epub 2021 Jun 1.

Department of Genetics, Aziz Sancar Institute of Experimental Medicine and Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

Background: MicroRNAs are small, endogenous, non-coding RNAs that regulate the expression of many genes. It has recently been shown that circulating microRNAs may be biomarkers of hypertrophy and fibrosis in patients with hypertrophic cardiomyopathy (HCM).

Objective: To determine whether circulating levels of microRNAs involved in HCM are associated with electrocardiographic and echocardiographic parameters. Read More

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Generation of three human induced pluripotent stem cell lines, LUMCi024-A, LUMCi025-A, and LUMCi026-A, from two patients with combined oxidative phosphorylation deficiency 8 and a related control.

Stem Cell Res 2021 May 29;53:102374. Epub 2021 Apr 29.

Department of Anatomy and Embryology, Leiden University Medical Center, Leiden, the Netherlands. Electronic address:

Combined Oxidative Phosphorylation Deficiency 8 (COXPD8) is an autosomal recessive disorder causing lethal childhood-onset hypertrophic cardiomyopathy. Homozygous or compound heterozygous mutations in the nuclear-encoded mitochondrial alanyl-tRNA synthetase 2 (AARS2) gene underly the pathology. We generated induced pluripotent stem cells (hiPSCs) from two patients carrying the heterozygous compound c. Read More

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An induced pluripotent stem cell line (EHTJUi003-A) generated from a neonate with c.1377delC mutation in the gene MYBPC3 causing hypertrophic cardiomyopathy.

Stem Cell Res 2021 May 12;53:102328. Epub 2021 Apr 12.

Institute for Regenerative Medicine, National Stem Cell Translational Resource Center, Shanghai East Hospital, School of Life Sciences and Technology, Tongji University, Shanghai 200092, China. Electronic address:

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant heart disease. An induced pluripotent stem cell line (EHTJUi003-A) was generated from umbilical cord blood mononuclear cells (UCBMCs) of a female neonate with heterozygous mutation of p.L460Wfs (c. Read More

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Identification of three novel pathogenic mutations in sarcomere genes associated with familial hypertrophic cardiomyopathy based on multi-omics study.

Clin Chim Acta 2021 Jun 1;520:43-52. Epub 2021 Jun 1.

Department of Cardiovascular Ultrasound, The First Affiliated Hospital of China Medical University, Shenyang 110001, China. Electronic address:

Background: Familial hypertrophic cardiomyopathy (HCM) is a leading cause of sudden cardiac death, but exhibits heterogeneous clinical features. A major research focus is to identify specific ultrasonic phenotypes, and causal gene mutations, as well as to elucidate the possible metabolic pathogenic effects in familial HCM through multi-omics study.

Methods: Nine members of two familial HCM pedigrees were enrolled in this study. Read More

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Native T1 mapping and extracellular volume fraction for differentiation of myocardial diseases from normal CMR controls in routine clinical practice.

BMC Cardiovasc Disord 2021 Jun 3;21(1):270. Epub 2021 Jun 3.

Division of Cardiology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wanglang Road, Bangkoknoi, Bangkok, 10700, Thailand.

Background: This study aimed to determine native T1 and extracellular volume fraction (ECV) in distinct types of myocardial disease, including amyloidosis, dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), myocarditis and coronary artery disease (CAD), compared to controls.

Methods: We retrospectively enrolled patients with distinct types of myocardial disease, CAD patients, and control group (no known heart disease and negative CMR study) who underwent 3.0 Tesla CMR with routine T1 mapping. Read More

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Mavacamten, a Novel Therapeutic Strategy for Obstructive Hypertrophic Cardiomyopathy.

Curr Cardiol Rep 2021 Jun 3;23(7):79. Epub 2021 Jun 3.

Cardiomyopathy Unit, Careggi University Hospital, Largo Brambilla 3, 50134, Florence, Italy.

Purpose Of Review: Pharmacological treatment options for hypertrophic cardiomyopathy (HCM) are currently limited and comprise non-disease specific therapies such as β-blockers, non-dihydropyridine calcium channel blockers, and disopyramide. These agents that offer a variable degree of symptomatic relief, often suboptimal, are often limited by side-effects and fail to address the key molecular abnormalities of the disease.

Recent Findings: Mavacamten is a novel, first-in-class, allosteric inhibitor of cardiac myosin ATPase, which reduces actin-myosin cross-bridge formation, thereby reducing myocardial contractility and improving myocardial energetic consumption in experimental HCM models. Read More

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Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant.

Am J Med Genet A 2021 Jun 3. Epub 2021 Jun 3.

Unidade de Genética, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.

Noonan syndrome (NS) is a Mendelian phenotype, member of a group of disorders sharing neurocardiofaciocutaneous involvement, known as RASopathies, caused by germline variants in genes coding for components of the RAS/MAPK signaling pathway. Recently, a novel gene of the RAS family (MRAS) was reported to be associated with NS in five children, all of them presenting, among the cardinal features of NS, the same cardiac finding, hypertrophic cardiomyopathy (HCM). We report on a 2-month-old infant boy also presenting this cardiac anomaly that evolved to a fatal outcome after a surgical myectomy. Read More

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Patients who do not fulfill criteria for hypertrophic cardiomyopathy but have unexplained giant T-wave inversion: a cardiovascular magnetic resonance mid-term follow-up study.

J Cardiovasc Magn Reson 2021 Jun 3;23(1):67. Epub 2021 Jun 3.

Department of Magnetic Resonance Imaging, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, 167 Beilishi Road, Xicheng District, Beijing, 100037, China.

Background: Patients who have unexplained giant T-wave inversions but do not meet criteria for hypertrophic cardiomyopathy (HCM) (left ventricular (LV) wall thickness < 1.5 cm) demonstrate LV apical morphological features that differ from healthy subjects. Currently, it remains unknown how the abnormal LV apical morphology in this patient population changes over time. Read More

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A Novel Mutation in the Myosin Binding Protein C Gene in a Prader-Willi Syndrome Pedigree.

Reprod Sci 2021 Jun 2. Epub 2021 Jun 2.

Shaoxing People's Hospital (Shaoxing Hospital, Zhejiang University School of Medicine), Zhong Xing North street 568, Yuecheng District, Shaoxing, Zhejiang Province, People's Republic of China, 312000.

Prader-Willi syndrome (PWS) is a neurogenetic disorder caused by deficiency expression of paternally imprinted genes of the chromosomal region 15. In this study, we report a novel mutation in the myosin binding protein C (MYBPC3) gene in a Prader-Willi syndrome pedigree. Next-generation sequencing (NGS) and Sanger sequencing were performed to define and confirm the MYBPC3 gene mutation. Read More

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Alcohol Septal Ablation: An Option on the Rise in Hypertrophic Obstructive Cardiomyopathy.

J Clin Med 2021 May 24;10(11). Epub 2021 May 24.

Department of Cardiology, Clinic Cardiovascular Institute, Hospital Clinic de Barcelona, 08036 Barcelona, Spain.

Hypertrophic cardiomyopathy (HCM) can cause symptoms due to the obstruction of the left ventricle outflow tract (LVOT). Although pharmacological therapy is the first step for treating this condition, many patients do not fully respond to the treatment, and an invasive approach is required to manage symptoms. Septal reduction therapies include septal myectomy (SM) and alcohol septal ablation (ASA). Read More

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The Prognostic Importance of Right Ventricular Longitudinal Strain in Patients with Cardiomyopathies, Connective Tissue Diseases, Coronary Artery Disease, and Congenital Heart Diseases.

Diagnostics (Basel) 2021 May 26;11(6). Epub 2021 May 26.

Klinik für Innere Medizin II, Universitätsklinikum Ulm, Albert-Einstein Allee 23, 89081 Ulm, Germany.

Right ventricular (RV) systolic function represents an important independent predictor of adverse outcomes in many cardiovascular (CV) diseases. However, conventional parameters of RV systolic function (tricuspid annular plane excursion (TAPSE), RV myocardial performance index (MPI), and fractional area change (FAC)) are not always able to detect subtle changes in RV function. New evidence indicates a significantly higher predictive value of RV longitudinal strain (LS) over conventional parameters. Read More

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Smooth Muscle Specific Ablation of CXCL12 in Mice Downregulates CXCR7 Associated with Defective Coronary Arteries and Cardiac Hypertrophy.

Int J Mol Sci 2021 May 31;22(11). Epub 2021 May 31.

Department of Internal Medicine III, Cardiology and Angiology, Medical University Innsbruck, 6020 Innsbruck, Austria.

The chemokine CXCL12 plays a fundamental role in cardiovascular development, cell trafficking, and myocardial repair. Human genome-wide association studies even have identified novel loci downstream of the CXCL12 gene locus associated with coronary artery disease and myocardial infarction. Nevertheless, cell and tissue specific effects of CXCL12 are barely understood. Read More

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Cardiopulmonary Exercise Test in Patients with Hypertrophic Cardiomyopathy: A Systematic Review and Meta-Analysis.

J Clin Med 2021 May 25;10(11). Epub 2021 May 25.

Human Physiology Area, Faculty of Sport Sciences, University of Murcia, Santiago de la Ribera-San Javier, 30720 Murcia, Spain.

Background: Patients with chronic diseases frequently adapt their lifestyles to their functional limitations. Functional capacity in Hypertrophic Cardiomyopathy (HCM) can be assessed by stress testing. We aim to review and analyze the available data from the literature on the value of Cardiopulmonary Exercise Test (CPET) in HCM. Read More

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Targeting Alcohol Septal Ablation in Patients with Obstructive Hypertrophic Cardiomyopathy Candidates for Surgical Myectomy: Added Value of Three-Dimensional Intracoronary Myocardial Contrast Echocardiography.

J Clin Med 2021 May 17;10(10). Epub 2021 May 17.

Cardiac Surgery Unit, IRCCS San Raffaele Scientific Institute, 20132 Milan, Italy.

Background: Myocardial contrast two-dimensional echocardiography (MC-2DE) is widely used to address alcohol septal ablation (ASA) in obstructive hypertrophic cardiomyopathy (HCM). Owing to its limited cut-planes, MC-2DE may inaccurately identify the contrast misplacement associated with an unsuccessful or complicated ASA outcome.

Objective: The aim of this study was to assess the added value of myocardial contrast three-dimensional echocardiography (MC-3DE) compared with MC-2DE to identify the appropriate matching between the target septal zone (TSZ) and coronary artery branch for safe and long-term effective ASA in HCM patients. Read More

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High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME).

J Clin Med 2021 May 17;10(10). Epub 2021 May 17.

Laboratory of Cardiac Imaging and 3D Printing, Li Ka Shing Institute of Health Science, The Chinese University of Hong Kong, Hong Kong, China.

Left ventricular hypertrophy (LVH) caused by cardiac variant Fabry disease (FD) is typically late-onset and may mimic LVH caused by abnormal loading conditions. We aimed to determine the prevalence of FD in a non-selective patient population of everyday practice presenting with LVH, including those with hypertension and valve disease. We measured plasma alpha-galactosidase A activity using dried blood spot tests in 499 (age = 66 ± 13 years; 336 men) Hong Kong Chinese patients with LVH defined as maximal LV septal/posterior wall thickness ≥13 mm on echocardiography. Read More

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Variants in Gene Cause Arrhythmogenic Cardiomyopathy.

Genes (Basel) 2021 May 22;12(6). Epub 2021 May 22.

Cardiology Unit, Department of Emergency and Critical Care, Tor Vergata Hospital, 00133 Rome, Italy.

Background: Arrhythmogenic Cardiomyopathy (ACM) is a disease of the cardiac muscle, characterized by frequent ventricular arrhythmias and functional/ structural abnormalities, mainly of the right ventricle. To date, 20 different genes have been associated with ACM and the majority of them encode for desmosomal proteins. In this study, we describe the characterization of two novel variants in gene, segregating in two ACM families. Read More

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