4,010 results match your criteria Arrhythmogenic Right Ventricular Cardiomyopathy


Myogenic Determination and Differentiation of Chicken Bone Marrow-Derived Mesenchymal Stem Cells under Different Inductive Agents.

Animals (Basel) 2022 Jun 13;12(12). Epub 2022 Jun 13.

State Key Laboratory for Conservation and Utilization of Subtropical Agro-Bioresources, Lingnan Guangdong Laboratory of Agriculture, College of Animal Science, South China Agricultural University, Guangzhou 510642, China.

Poultry plays an important role in the meat consumer market and is significant to further understanding the potential mechanism of muscle development in the broiler. Bone marrow-derived mesenchymal stem cells (BM-MSCs) can provide critical insight into muscle development due to their multi-lineage differentiation potential. To our knowledge, chicken BM-MSCs demonstrate limited myogenic differentiation potential under the treatment with dexamethasone (DXMS) and hydrocortisone (HC). Read More

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Clinical impact of low coverage in whole-exome genetic testing in the assessment of familial arrhythmogenic right ventricular cardiomyopathy: a case report.

Eur Heart J Case Rep 2021 Jun 17;5(6):ytab111. Epub 2021 Jun 17.

Department of Cardiology, University Heart Center Zurich, Rämistrasse 100, 8091 Zurich, Switzerland.

Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited condition, with approximately 60% of patients carrying a possibly disease-causing genetic variant. Known desmosomal genes account for about 50% of those variants. We herein report a family with ARVC in which a pathogenic desmosomal variant was missed because of the initial genetic testing method. Read More

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Cardiac arrest secondary to arrhythmogenic right ventricular cardiomyopathy in an adolescent male.

Indian Pacing Electrophysiol J 2022 Jun 16. Epub 2022 Jun 16.

Wolfson Children's Hospital, Jacksonville, FL, USA. Electronic address:

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare, genetically-inherited cardiomyopathy that may be fatal. We present the case of a 17 year old male who presented after a witnessed cardiac arrest with indeterminate echocardiogram and electrocardiogram (ECG) findings for a specific etiology. Genetic testing revealed a mutation in the PKP2 and DSC2 genes, consistent with ARVC. Read More

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Differentiating Physiology from Pathology: The Gray Zones of the Athlete's Heart.

Clin Sports Med 2022 Jul;41(3):425-440

Sports & Performance Cardiology Program, MedStar Health, 3333 North Calvert Street Suite 500 JPB, Baltimore, MD 21218, USA. Electronic address:

Routine vigorous exercise can lead to electrical, structural, and functional adaptations that can enhance exercise performance. There are several factors that determine the type and magnitude of exercise-induced cardiac remodeling (EICR) in trained athletes. In some athletes with pronounced cardiac remodeling, there can be an overlap in morphologic features with mild forms of cardiomyopathy creating gray zone scenarios whereby distinguishing health from disease can be difficult. Read More

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Case Report: Pulmonary Vein Isolation as a Tailored Treatment for Recurrent Ventricular Tachycardia During Hemodialysis in a Patient With Right Coronary Artery Chronic Total Occlusion.

Front Cardiovasc Med 2022 30;9:871386. Epub 2022 May 30.

Department of Cardiothoracic Pathology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.

Background: Catheter ablation of the ventricular substrate can reduce ventricular tachycardia (VT) recurrence and mortality in an electrical storm (ES). However, identification and specific treatment of plausible triggers is mandatory and may lead to the resolution of ES.

Objective: This case presentation seeks to exemplify how pulmonary vein isolation (PVI) may represent a tailored treatment of ES in cases of ventricular substrate, which only becomes arrhythmogenic during high-rate episodes of paroxysmal atrial fibrillation (PAF). Read More

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Molecular Approach of Hereditary Arrhythmias, Long QT Syndrome, and Arrhythmogenic Right Ventricular Cardiomyopathy.

Anatol J Cardiol 2022 06;26(6):460-465

Department of Medical Genetics, University of Health Sciences, Dr. Abdurrahman Yurtaslan Ankara Oncology Training and Research Hospital, Ankara, Turkey.

Background: Hereditary cardiac arrhythmias result from mutations in various genes encoding ion channels. One major channelopathy is long QT syndrome, which has excel- lent genetic and clinical heterogeneity. Arrhythmogenic right ventricular cardiomyopa- thy, another hereditary arrhythmia type, also shows high genetic heterogeneity and variable expressivity. Read More

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Utilization of sacubitril-valsartan for right ventricular failure in a patient with arrhythmogenic right ventricular cardiomyopathy.

Future Cardiol 2022 Jun 15. Epub 2022 Jun 15.

Lehigh Valley Heart Institute, Lehigh Valley Health Network, Allentown, PA, USA.

Arrhythmogenic right ventricular (RV) cardiomyopathy is an autosomal dominant inherited cardiomyopathy that is characterized by an increased risk of ventricular arrhythmias, sudden cardiac death and, less commonly, heart failure. The authors present the case of a 36-year-old woman with familial lamin cardiomyopathy with positive mutation and genetic testing revealing and mutations consistent with arrhythmogenic RV cardiomyopathy. The patient presented with clinical signs of RV failure. Read More

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Generation of two induced pluripotent stem cell lines carrying the phospholamban R14del mutation for modeling ARVD/C.

Stem Cell Res 2022 Jun 6;63:102834. Epub 2022 Jun 6.

Stanford Cardiovascular Institute, Stanford University, School of Medicine, United States; Division of Cardiovascular Medicine, Stanford University, School of Medicine, United States. Electronic address:

The phospholamban (PLN) R14del mutation is associated with arrhythmogenic right ventricular dysplasia (ARVD/C). ARVD/C is a cardiac disease characterized by arrhythmias and structural abnormalities in the right ventricle. Because PLN is a regulator of calcium release, this mutation can have deleterious effects on tissue integrity and contraction. Read More

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Arrhythmogenic Right Ventricular Dysplasia (ARVD) With Protein Plakophilin-2 Mutation.

Cureus 2022 May 10;14(5):e24872. Epub 2022 May 10.

Internal Medicine, Icahn School of Medicine at Mount Sinai Beth Israel, New York City, USA.

Arrhythmogenic right ventricular dysplasia (ARVD) is a heart muscle disease that predominantly affects the right ventricle; however, biventricular involvement is increasingly being recognized. Fibrofatty tissue replacement is a central feature of ARVD. The majority of the identified genes, including protein plakophilin-2 (PKP-2), involved in cell-to-cell adhesion, can be seen in most genetic cases. Read More

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The value of genetic testing in the diagnosis and risk stratification of arrhythmogenic right ventricular cardiomyopathy.

Heart Rhythm 2022 Jun 7. Epub 2022 Jun 7.

Netherlands Heart Institute, Utrecht, the Netherlands; Department of Cardiology, University Medical Center Utrecht∗, University of Utrecht, Utrecht, the Netherlands.

Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by risk of malignant ventricular arrhythmias (VA). ARVC is diagnosed using an array of clinical tests in the consensus-based task force criteria (TFC), one of which is genetic testing.

Objective: To investigate the value of genetic testing in diagnosing ARVC and its relation to the occurrence of first malignant VA. Read More

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Structural Insight Into Ryanodine Receptor Channelopathies.

Front Pharmacol 2022 23;13:897494. Epub 2022 May 23.

Tianjin Key Laboratory for Modern Drug Delivery and High-Efficiency, Collaborative Innovation Center of Chemical Science and Engineering, School of Pharmaceutical Science and Technology, Tianjin University, Tianjin, China.

The ryanodine receptors (RyRs) are large cation-selective ligand-gated channels that are expressed in the sarcoplasmic reticulum (SR) membrane. They mediate the controlled release of Ca from SR and play an important role in many cellular processes. The mutations in RyRs are associated with several skeletal muscle and cardiac conditions, including malignant hyperthermia (MH), central core disease (CCD), catecholaminergic polymorphic ventricular tachycardia (CPVT), and arrhythmogenic right ventricular dysplasia (ARVD). Read More

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"Orphan" Connexin43 in Plakophilin-2 Deficient Hearts Revealed by Volume Electron Microscopy.

Front Cell Dev Biol 2022 8;10:843687. Epub 2022 Mar 8.

Microscopy Laboratory, Division of Advanced Research Technologies, New York University Grossman School of Medicine, New York, NY, United States.

Previous studies revealed an abundance of functional Connexin43 (Cx43) hemichannels consequent to loss of plakophilin-2 (PKP2) expression in adult murine hearts. The increased Cx43-mediated membrane permeability is likely responsible for excess entry of calcium into the cells, leading to an arrhythmogenic/cardiomyopathic phenotype. The latter has translational implications to the molecular mechanisms of inheritable arrhythmogenic right ventricular cardiomyopathy (ARVC). Read More

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Combined Use of Voltage Mapping and Speckle-tracking Analysis for the Characterization of Arrhythmogenic Right Ventricular Cardiomyopathy: A Case Report.

J Innov Card Rhythm Manag 2022 May 15;13(5):4981-4986. Epub 2022 May 15.

Department of Medical Biotechnologies, Division of Cardiology, University of Siena, Siena, Italy.

A 38-year-old man was admitted to our hospital after ventricular tachycardia. Endocardial bipolar and unipolar voltage mapping were performed and findings were integrated with data from intracardiac echocardiography (ICE) right ventricular (RV) speckle-tracking analysis. A reduction in the strain analysis was stored in correspondence of the fragmented electrogram area. Read More

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Arrhythmogenic right ventricular cardiomyopathy complicating hypertrophic cardiomyopathy.

Eur Heart J Cardiovasc Imaging 2022 Jun 3. Epub 2022 Jun 3.

Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Tsu, Mie, Japan.

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Molecular genetics in 4 408 cardiomyopathy probands and 3 008 relatives in Norway: 17 years of genetic testing in a national laboratory.

Eur J Prev Cardiol 2022 Jun 2. Epub 2022 Jun 2.

Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital, P. O. Box 4956 Nydalen, N-0424 Oslo, Norway.

Whenever a patient presents with cardiomyopathy, it is important to determine the underlying cause in order to provide the best possible follow-up and treatment. Determining an underlying genetic cause of the disease is also important in order to provide family testing and follow-up of relatives at risk. Unit for Cardiac and Cardiovascular Genetics at Oslo University Hospital has been a national laboratory for genetic testing for cardiomyopathies in Norway since 2003. Read More

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Chronological T-wave alternation before and after the onset of arrhythmogenic right ventricular cardiomyopathy.

Ann Noninvasive Electrocardiol 2022 Jun 2:e12965. Epub 2022 Jun 2.

Department of Pediatrics, Iwate Medical University, Shiwa, Japan.

Identification of arrhythmogenic right ventricular cardiomyopathy (ARVC) during childhood is challenging due to the lack of specific ECG manifestation. We report chronological ECG alteration before several years of the ARVC onset in two affected children. Their ECG at the age of 6 years was almost normal for their age, and their chronological ECGs exhibited inversion of T wave in inferior leads, which are typical for ARVC, developed at younger age than that in precordial leads. Read More

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Decreased Expression of Plakophilin-2 and αT-Catenin in Arrhythmogenic Right Ventricular Cardiomyopathy: Potential Markers for Diagnosis.

Int J Mol Sci 2022 May 16;23(10). Epub 2022 May 16.

Heart Rhythm Center and Division of Cardiology, Department of Medicine, Taipei Veterans General Hospital, Taipei 112201, Taiwan.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary disease of the heart muscle. Clinical challenges remain, however, in identifying patients with ARVC in the early or concealed stages with subtle clinical manifestations. Therefore, we wanted to identify potential targets by immunohistochemical (IHC) analysis in comparison with controls. Read More

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Arrhythmias as Presentation of Genetic Cardiomyopathy.

Circ Res 2022 May 26;130(11):1698-1722. Epub 2022 May 26.

Division of Cardiovascular Medicine, Vanderbilt Heart and Vascular Institute, Vanderbilt University Medical Center, Nashville, TN.

There is increasing evidence regarding the prevalence of genetic cardiomyopathies, for which arrhythmias may be the first presentation. Ventricular and atrial arrhythmias presenting in the absence of known myocardial disease are often labelled as idiopathic, or lone. While ventricular arrhythmias are well-recognized as presentation for arrhythmogenic cardiomyopathy in the right ventricle, the scope of arrhythmogenic cardiomyopathy has broadened to include those with dominant left ventricular involvement, usually with a phenotype of dilated cardiomyopathy. Read More

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Right coronary occlusion due to endocardial ablation for ventricular tachycardia in arrhythmogenic right ventricular cardiomyopathy.

J Interv Card Electrophysiol 2022 May 19. Epub 2022 May 19.

Department of Cardiology, Tokyo Medical and Dental University Hospital, 1-5-45 Yushima, Bunkyo-ku, 113-8510, Tokyo, Japan.

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Arrhythmogenic Right Ventricular Cardiomyopathy Prevalence and Arrhythmic Outcomes in At-Risk Family Members: A Systematic Review and Meta-Analysis.

Circ Genom Precis Med 2022 Jun 17;15(3):e003530. Epub 2022 May 17.

Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD (A.S., C.T., B.M., H.T., H.C., C.A.J.).

Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a complex cardiomyopathy with autosomal dominant inheritance and age-related incomplete penetrance, characterized by a high risk of sudden cardiac death. Recent professional consensus guidelines recommend clinical cardiac lifelong serial screening for at-risk family members refined only by age, but family genotype might influence necessary screening. Although numerous studies report prevalence of disease and arrhythmia in family members and explore predictors of penetrance and arrhythmic risk, a systematic review consolidating this evidence is lacking. Read More

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Arrhythmogenic right ventricular cardiomyopathy presenting as heart failure in a child.

Cardiol Young 2022 May 17:1-4. Epub 2022 May 17.

Division of Cardiology, Children's Hospital of Michigan, Detroit, MI, USA.

Arrhythmogenic right ventricular cardiomyopathy is an uncommon diagnosis in the paediatric population, most commonly presenting with arrhythmia. We report an 11-year-old male presenting with right heart failure due to biventricular systolic dysfunction found to have arrhythmogenic right ventricular cardiomyopathy with de novo Desmin and MYH7 mutations. Read More

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Vaccine-Associated Anaphylactic Shock in a Springer Spaniel Dog with Arrhythmogenic Right Ventricular Cardiomyopathy.

J Comp Pathol 2022 Jun 26;194:34-38. Epub 2022 Apr 26.

Mouse and Animal Pathology Laboratory, Fondazione Unimi, Milano, Italy; Department of Veterinary Medicine and Animal Sciences, University of Milan, Lodi, Italy.

A 5-year-old female Springer Spaniel dog was submitted for necropsy after sudden death following vaccination against Leptospira spp. Gross examination revealed a diffuse dark red discolouration of skeletal musculature, severe diffuse congestion of all the abdominal organs and a contracted spleen. Severe dilation and reduction in wall width was seen in the right ventricle and histological examination revealed multifocal replacement of the right ventricular myocardium by a large amount of fibrofatty tissue. Read More

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Implantable defibrillator in patients with inherited arrhythmogenic diseases: Are inapproppriate shocks preventable?

Int J Cardiol 2022 Aug 12;360:36-38. Epub 2022 May 12.

Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padova, Padova, Italy.

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Sanfilippo syndrome type A: early cardiac involvement of two patients with cardiac manifestations.

Cardiovasc Pathol 2022 May 7;60:107430. Epub 2022 May 7.

Anatomic Pathology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada. Electronic address:

Purpose: To report two unusual presentations of mucopolysaccharidosis type III (Sanfilippo syndrome) and provide evidence for the cardiac involvement.

Patients And Methods: We report two siblings with cardiac involvement that were diagnosed in childhood with Sanfilippo A Syndrome (SAS). All patients' diagnosis was confirmed by the excess of heparan sulfate in the urine and the reduction of heparan sulfamidase protein activity. Read More

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Population Prevalence of Premature Truncating Variants in Plakophilin-2 and Association With Arrhythmogenic Right Ventricular Cardiomyopathy: A UK Biobank Analysis.

Circ Genom Precis Med 2022 Jun 10;15(3):e003507. Epub 2022 May 10.

Inherited Cardiac Arrhythmia Program, Department of Cardiology, Boston Children's Hospital (R.J.H., D.Q., S.F.C., T.M.R., W.T.P., V.J.B., D.J.A.), Harvard Medical School, Boston MA.

Background: Truncating variants in the desmosomal gene tv) cause arrhythmogenic right ventricular cardiomyopathy (ARVC) yet display varied penetrance and expressivity.

Methods: We identified individuals with tv from the UK Biobank (UKB) and determined the prevalence of an ARVC phenotype and other cardiovascular traits based on clinical and procedural data. The tv minor allelic frequency in the UKB was compared with a second cohort of probands with a clinical diagnosis of ARVC (ARVC cohort), with a figure of 1:5000 assumed for disease prevalence. Read More

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Reply to the Letter to the Editor entitled "The importance of anti-fibrotic drugs as first-line therapy in patients with arrhythmogenic right ventricular dysplasia".

Int J Cardiol 2022 Aug 5;361:49. Epub 2022 May 5.

Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina and University of Trieste, Trieste, Italy; Department of Medicine, Karolinska Institutet, Stockholm, Sweden. Electronic address:

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Rare and potential pathogenic mutations of LMNA and LAMA4 associated with familial arrhythmogenic right ventricular cardiomyopathy/dysplasia with right ventricular heart failure, cerebral thromboembolism and hereditary electrocardiogram abnormality.

Orphanet J Rare Dis 2022 05 7;17(1):183. Epub 2022 May 7.

The First Dongguan Affiliated Hospital, Guangdong Medical University, Dongguan, 523710, Guangdong Province, China.

Background: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is associated with ventricular arrhythmia, heart failure (HF), and sudden death. Thromboembolism is also an important and serious complication of ARVC/D. However, the etiology of ARVC/D and thromboembolism and their association with genetic mutations are unclear. Read More

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Reply to letter "The effect of beta-blocker on sudden cardiac death in arrhythmogenic right ventricle cardiomyopathy remains to be considered" by Zhenyu Dong et al.

Int J Cardiol 2022 Aug 4;360:45. Epub 2022 May 4.

Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina and University of Trieste, Trieste, Italy; Division of Cardiology, Department of Medicine, Karolinska Institutet, Stockholm, Sweden.

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Right atrial strain and cardiovascular outcome in arrhythmogenic right ventricular cardiomyopathy.

Eur Heart J Cardiovasc Imaging 2022 Jun;23(7):970-978

Department of Cardiology, University Heart Center, University Hospital Zürich, Zurich, Switzerland.

Aims: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by progressive fibro-fatty infiltration of the myocardium and associated with adverse cardiovascular (CV) events. This study aims to examine right atrial (RA) deformation in ARVC and understand its association with CV outcomes.

Methods And Results: RA strain was determined in 50 patients with definite ARVC, compared with a matched control group of 50 healthy individuals, and analysed for outcome association over a median follow-up duration of 5 years. Read More

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Exercise Causes Arrhythmogenic Remodeling of Intracellular Calcium Dynamics in Plakophilin-2-Deficient Hearts.

Circulation 2022 05 1;145(19):1480-1496. Epub 2022 May 1.

The Leon Charney Division of Cardiology, New York University Grossmann School of Medicine (C.J.M.v.O., J.-C.K., M.C., M.D.).

Background: Exercise training, and catecholaminergic stimulation, increase the incidence of arrhythmic events in patients affected with arrhythmogenic right ventricular cardiomyopathy correlated with plakophilin-2 (PKP2) mutations. Separate data show that reduced abundance of PKP2 leads to dysregulation of intracellular Ca (Ca) homeostasis. Here, we study the relation between excercise, catecholaminergic stimulation, Ca homeostasis, and arrhythmogenesis in PKP2-deficient murine hearts. Read More

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