3,741 results match your criteria Arrhythmogenic Right Ventricular Cardiomyopathy

The genetic architecture of Plakophilin 2 cardiomyopathy.

Genet Med 2021 Jun 12. Epub 2021 Jun 12.

Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.

Purpose: The genetic architecture of Plakophilin 2 (PKP2) cardiomyopathy can inform our understanding of its variant pathogenicity and protein function.

Methods: We assess the gene-wide and regional association of truncating and missense variants in PKP2 with arrhythmogenic cardiomyopathy (ACM), and arrhythmogenic right ventricular cardiomyopathy (ARVC) specifically. A discovery data set compares genetic testing requisitions to gnomAD. Read More

View Article and Full-Text PDF

Cardiac sarcoidosis masquerading as arrhythmogenic right ventricular cardiomyopathy: a case report.

Eur Heart J Case Rep 2021 Mar 13;5(3):ytab072. Epub 2021 Mar 13.

Department of Advanced Heart Failure, Sands-Constellation Heart Institute, Rochester Regional Health, 1425 Portland Avenue, Rochester, NY 14621, USA.

Background: Cardiac sarcoidosis (CS) and arrhythmogenic right ventricular cardiomyopathy (ARVC) are rare causes of ventricular arrhythmias and are associated with sudden cardiac death. Differentiation between both is important for proper management.

Case Summary: We present a 56-year-old man with sudden cardiac arrest and was diagnosed to have ARVC based on cardiac magnetic resonance imaging (MRI). Read More

View Article and Full-Text PDF

QRS dispersion detected in ARVC patients and healthy gene carriers using 252-leads Body Surface Mapping - an explorative study of a potential diagnostic tool for Arrhythmogenic Right Ventricular Cardiomyopathy.

Pacing Clin Electrophysiol 2021 Jun 10. Epub 2021 Jun 10.

Department of Cardiology and Medical Science, Uppsala University, Uppsala, SE-75185, Sweden.

Background: The diagnosis of ARVC remains complex requiring both imaging and electrocardiographic (ECG) techniques. The purpose was therefore to investigate whether QRS dispersion assessed by body surface mapping (BSM) could be used to detect early signs of ARVC, particularly in gene carriers.

Methods: ARVC patients, gene carriers without a history of arrhythmias or structural cardiac changes and healthy controls underwent 12 lead resting ECG, signal-averaged ECG, echocardiographic examination, 24-hours Holter monitoring and BSM with electrocardiographic imaging. Read More

View Article and Full-Text PDF

An induced pluripotent stem cell line (EHTJUi004-A) generated from a neonate with c.4683_4684delCT:p.Leu1563fs mutation in the gene DSP causing Familial Arrhythmogenic Right Ventricular Dysplasia (ARVD).

Stem Cell Res 2021 May 11;53:102369. Epub 2021 May 11.

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:

Familial Arrhythmogenic Right Ventricular Dysplasia (ARVD) is a primary cardiomyopathy characterized by the abnormality of the right ventricular muscle. ARVD may be life-threatening due to the induction of paroxysmal refractory ventricular tachycardia or supraventricular arrhythmia. A human induced pluripotent stem cell line (EHTJUi004-A) was generated from human umbilical cord blood mononuclear cells (UCBMCs) of a female neonate with heterozygous mutation of p. Read More

View Article and Full-Text PDF

Beneficial effect of voluntary physical exercise in Plakophilin2 transgenic mice.

PLoS One 2021 4;16(6):e0252649. Epub 2021 Jun 4.

University Hospital Regensburg, Internal Medicine II, Regensburg, Germany.

Arrhythmogenic right ventricular cardiomyopathy is a hereditary, rare disease with an increased risk for sudden cardiac death. The disease-causing mutations are located within the desmosomal complex and the highest incidence is found in plakophilin2. However, there are other factors playing a role for the disease progression unrelated to the genotype such as inflammation or exercise. Read More

View Article and Full-Text PDF

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

View Article and Full-Text PDF

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

View Article and Full-Text PDF

Arrhythmogenic Left Ventricular Cardiomyopathy: Genotype-Phenotype Correlations and New Diagnostic Criteria.

J Clin Med 2021 May 20;10(10). Epub 2021 May 20.

Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, 35128 Padua, Italy.

Arrhythmogenic cardiomyopathy (ACM) is an inherited heart muscle disease characterized by loss of ventricular myocardium and fibrofatty replacement, which predisposes to scar-related ventricular arrhythmias and sudden cardiac death, particularly in the young and athletes. Although in its original description the disease was characterized by an exclusive or at least predominant right ventricle (RV) involvement, it has been demonstrated that the fibrofatty scar can also localize in the left ventricle (LV), with the LV lesion that can equalize or even overcome that of the RV. While the right-dominant form is typically associated with mutations in genes encoding for desmosomal proteins, other (non-desmosomal) mutations have been showed to cause the biventricular and left-dominant variants. Read More

View Article and Full-Text PDF

Peptidic Connexin43 Therapeutics in Cardiac Reparative Medicine.

J Cardiovasc Dev Dis 2021 May 5;8(5). Epub 2021 May 5.

Fralin Biomedical Research Institute at VTC, Virginia Tech, Roanoke, VA 24016, USA.

Connexin (Cx43)-formed channels have been linked to cardiac arrhythmias and diseases of the heart associated with myocardial tissue loss and fibrosis. These pathologies include ischemic heart disease, ischemia-reperfusion injury, heart failure, hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, and Duchenne muscular dystrophy. A number of Cx43 mimetic peptides have been reported as therapeutic candidates for targeting disease processes linked to Cx43, including some that have advanced to clinical testing in humans. Read More

View Article and Full-Text PDF

Quantitative proteomics revealed the molecular characteristics of distinct types of granulated somatotroph adenomas.

Endocrine 2021 May 27. Epub 2021 May 27.

Department of Neurosurgery, Zhongshan Hospital, Fudan University, Shanghai, China.

Purpose: Somatotroph adenomas are obviously heterogeneous in clinical characteristics, imaging performance, pathological diagnosis and therapeutic effect. The heterogeneity of the tumors, especially for SG and DG type adenomas, have attracted great interest in identifying the specific pathological markers and therapeutic targets of them. However, previous analyses of the molecular characteristics of the subtypes of somatotroph adenomas were performed at genomic and transcriptome level. Read More

View Article and Full-Text PDF

Establishment of an arrhythmogenic right ventricular cardiomyopathy derived iPSC cell line (USFi004-A) carrying a heterozygous mutation in PKP2 (c.1799delA).

Stem Cell Res 2021 May 19;54:102398. Epub 2021 May 19.

Department of Molecular Pharmacology and Physiology, Morsani College of Medicine - University of South Florida, Tampa, FL, USA; Department of Medicine (Cardiology), Heart Institute, Morsani College of Medicine - University of South Florida, Tampa, FL, USA. Electronic address:

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an autosomal dominant inherited disease, with variable penetrance and expressivity. Currently, more than 14 different genetic loci have been reported for ARVC, the majority being desmosomal genes like Plakophilin-2 (PKP2). Here, we generated an iPSC cell line bearing a pathogenic heterozygous mutation in PKP2 (c. Read More

View Article and Full-Text PDF

Desmosomal protein structure and function and the impact of disease-causing mutations.

J Struct Biol 2021 May 24;213(3):107749. Epub 2021 May 24.

Institute of Clinical Sciences, University of Birmingham, Birmingham B15 2TT, UK. Electronic address:

In this graphical review we focus on the structural characteristics of desmosomal proteins, their interactions with each other and with the intermediate filament cytoskeleton. The wealth of structural information that is now available allows predictions to be made about the pathogenic effect of disease-causing mutations. We have selected representative examples of missense mutations that are buried, semi-buried or surface exposed, and demonstrate how such variants could affect the structural fold of desmosomal proteins that are expressed in the heart. Read More

View Article and Full-Text PDF

Pregnancy in arrhythmogenic cardiomyopathy.

Herzschrittmacherther Elektrophysiol 2021 Jun 25;32(2):186-198. Epub 2021 May 25.

Klinik für Innere Medizin / Kardiologie, Niels-Stensen-Kliniken, Marienhospital Osnabrück, Herzzentrum Osnabrück/Bad Rothenfelde, Bischofsstr. 1, 49074, Osnabrück, Germany.

Arrhythmogenic cardiomyopathy (AC) is a rare heart muscle disease with a genetic background and autosomal dominant mode of transmission. The clinical manifestation is characterized by ventricular arrhythmias (VA), heart failure (HF) and the risk of sudden cardiac death (SCD). Pregnancy in young female patients with AC represents a challenging condition for the life and family planning of young affected women. Read More

View Article and Full-Text PDF

Evaluating the 12-Lead Electrocardiogram for Diagnosing ARVC in Young Populations: Implications for Preparticipation Screening of Athletes.

CJC Open 2021 Apr 18;3(4):498-503. Epub 2020 Dec 18.

Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.

Background: Arrhythmogenic right-ventricular cardiomyopathy (ARVC) is an identified cause of sport-related sudden cardiac arrest (SCA). Identifying athletes with ARVC and restricting them from exercise is believed to reduce the risk of SCA. The electrocardiogram (ECG) is considered to be an important component of screening for ARVC; however, the sensitivity of the 12-lead ECG to identify ARVC in young asymptomatic persons is unknown. Read More

View Article and Full-Text PDF

Electrocardiographic Screening of Arrhythmogenic Cardiomyopathy in Genotype-Positive and Phenotype-Negative Relatives.

Front Cardiovasc Med 2021 7;8:646391. Epub 2021 May 7.

Department of Cardiology, Virgen de la Arrixaca University Hospital, Murcia, Spain.

Arrhythmogenic cardiomyopathy is a hereditary cause of ventricular arrhythmias and sudden death. Identifying the healthy genetic carriers who will develop the disease remains a challenge. A novel approach to the analysis of the digital electrocardiograms of mutation carriers through signal processing may identify early electrocardiographic abnormalities. Read More

View Article and Full-Text PDF

Epsilon wave disappearance by catheter ablation for ventricular arrhythmia from the left ventricular outflow tract.

HeartRhythm Case Rep 2021 May 12;7(5):343-346. Epub 2021 Mar 12.

Department of Cardiovascular Medicine, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.

View Article and Full-Text PDF

Prognostic value of late gadolinium enhancement in arrhythmogenic right ventricular cardiomyopathy: a meta-analysis.

Clin Radiol 2021 May 20. Epub 2021 May 20.

Department of Radiology, Tianjin First Central Hospital, No. 24, Fukang Road, Nankai District, Tianjin, 300000, China. Electronic address:

Aim: To assess systematically the prognostic value of cardiac magnetic resonance imaging (CMRI) in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC).

Materials And Methods: The full text of studies of the clinical efficacy of late gadolinium enhancement (LGE) in ARVC was retrieved in multiple databases. Stata 14 was adopted for meta-analysis and bias analysis. Read More

View Article and Full-Text PDF

Arrhythmia Mechanism and Dynamics in a Humanized Mouse Model of Inherited Cardiomyopathy Due to Phospholamban R14del Mutation.

Circulation 2021 May 24. Epub 2021 May 24.

Cardiovascular Research Center, Icahn School of Medicine at Mount Sinai, New York, NY; Yale University School of Medicine, New Haven, CT; Yale Department of Biomedical Engineering, New Haven, CT.

Arginine (Arg) 14 deletion (R14del) in the calcium regulatory protein phospholamban (hPLN) has been identified as a disease-causing mutation in patients with an inherited cardiomyopathy. Mechanisms underlying the early arrhythmogenic phenotype that predisposes carriers of this mutation to sudden death with no apparent structural remodeling remain unclear. To address this, we performed high spatio-temporal resolution optical mapping of intact hearts from adult knock-in mice harboring the human PLN (WT, N=12) or the heterozygous human PLN mutation (R14del, N=12) before and after challenge with isoproterenol and rapid pacing. Read More

View Article and Full-Text PDF

Familial dilated cardiomyopathy with RBM20 mutation in an Indian patient: a case report.

Egypt Heart J 2021 May 22;73(1):47. Epub 2021 May 22.

Department of Cardiology, All India Institute of Medical Science, New Delhi, India.

Background: Dilated cardiomyopathy (DCM) is a disease of the heart muscle characterized by ventricular dilation and a left ventricular ejection fraction of less than 40%. Unlike hypertrophic cardiomyopathy (HCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC), DCM-causing mutations are present in a large number of genes. In the present study, we report a case of the early age of onset of DCM associated with a pathogenic variant in the RBM20 gene in a patient from India. Read More

View Article and Full-Text PDF

Cardiac MRI findings to differentiate athlete's heart from hypertrophic (HCM), arrhythmogenic right ventricular (ARVC) and dilated (DCM) cardiomyopathy.

Int J Cardiovasc Imaging 2021 May 21. Epub 2021 May 21.

Department of Radiology, Diagnostic and Interventional Radiology, University of Tübingen, Tübingen, Germany.

To provide clinically relevant criteria for differentiation between the athlete's heart and similar appearing hypertrophic (HCM), dilated (DCM), and arrhythmogenic right-ventricular cardiomyopathy (ARVC) in MRI. 40 top-level athletes were prospectively examined with cardiac MR (CMR) in two university centres and compared to retrospectively recruited patients diagnosed with HCM (n = 14), ARVC (n = 18), and DCM (n = 48). Analysed MR imaging parameters in the whole study cohort included morphology, functional parameters and late gadolinium enhancement (LGE). Read More

View Article and Full-Text PDF

Contemporary and Future Approaches to Precision Medicine in Inherited Cardiomyopathies: JACC Focus Seminar 3/5.

J Am Coll Cardiol 2021 May;77(20):2551-2572

Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia; St. Vincent's Clinical School, Faculty of Medicine, UNSW Sydney, Kensington, New South Wales, Australia; Cardiology Department, St. Vincent's Hospital, Darlinghurst, New South Wales, Australia; The Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA. Electronic address:

Inherited cardiomyopathies are commonly occurring myocardial disorders that are associated with substantial morbidity and mortality. Clinical management strategies have focused on treatment of heart failure and arrhythmic complications in symptomatic patients according to standardized guidelines. Clinicians are now being urged to implement precision medicine, but what does this involve? Advances in understanding of the genetic underpinnings of inherited cardiomyopathies have brought new possibilities for interventions that are tailored to genes, specific variants, or downstream mechanisms. Read More

View Article and Full-Text PDF

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Probably Caused by DSG2 p.Val149Ile Mutation as Genetic Background When Carrying with Heterozygous PRRT2 p.Arg217ProfsTer8 Mutation: A Case Report.

Int Med Case Rep J 2021 12;14:307-313. Epub 2021 May 12.

Cardiovascular Disease Center, Central Hospital of Tujia and Miao Autonomous Prefecture, Enshi Clinical College of Wuhan University, Enshi Prefecture, 445000, Hubei Province, People's Republic of China.

Background: ARVC is a rare genetic-related disease characterized by fibrous fat replacement in the ventricular myocardium, caused by mutations in genes encoding for the desmosomal proteins, such as the desmoglein-2 gene (DSG2). It is reported in the literature that other genetic factors may play a role in disease penetrance. Herein, we report a Chinese proband with ARVC, which was probably caused by DSG2 p. Read More

View Article and Full-Text PDF

Left ventricular fibro-fatty replacement in arrhythmogenic right ventricular dysplasia/cardiomyopathy: prevalence, patterns, and association with arrhythmias.

J Cardiovasc Magn Reson 2021 May 20;23(1):58. Epub 2021 May 20.

The Russell H. Morgan Department of Radiology and Radiological Sciences, Johns Hopkins University School of Medicine, 600 N. Wolfe St.; Halsted B180, Baltimore, MD, USA.

Background: Left ventricular (LV) fibrofatty infiltration in arrhythmogenic right ventricular (RV) dysplasia/cardiomyopathy (ARVD/C) has been reported, however, detailed cardiovascular magnetic resonance (CMR) characteristics and association with outcomes are uncertain. We aim to describe LV findings on CMR in ARVD/C patients and their relationship with arrhythmic outcomes.

Methods: CMR of 73 subjects with ARVD/C according to the 2010 Task Force Criteria (TFC) were analyzed for LV involvement, defined as ≥ 1 of the following features: LV wall motion abnormality, LV late gadolinium enhancement (LGE), LV fat infiltration, or LV ejection fraction (LVEF) < 50%. Read More

View Article and Full-Text PDF

Arrhythmogenic Right Ventricular Dysplasia and Brugada Syndrome Overlap.

Cureus 2021 Apr 14;13(4):e14482. Epub 2021 Apr 14.

Division of Electrophysiology, Beirut Cardiac Institute, Beirut, LBN.

Arrhythmogenic right ventricular dysplasia (ARVD) and Brugada syndrome( BS) are associated with an increased risk of sudden cardiac death. Although they are described as two different entities, research suggests that they are not entirely separate. This paper presents a 55 years old male who presented for syncope. Read More

View Article and Full-Text PDF

Measurement of success of catheter ablation for premature ventricular contractions in arrhythmogenic right ventricular cardiomyopathy: Different sides of the same coin.

J Cardiovasc Electrophysiol 2021 May 16. Epub 2021 May 16.

Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

View Article and Full-Text PDF

Arrhythmogenic right ventricular cardiomyopathy: a focused update on diagnosis and risk stratification.

Heart 2021 May 14. Epub 2021 May 14.

Cardiology, UMC Utrecht, Utrecht, The Netherlands

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterised by fibrofatty replacement of predominantly the right ventricle and high risk of ventricular arrhythmias and sudden cardiac death (SCD). Early diagnosis and accurate risk assessment are challenging yet essential for SCD prevention. This manuscript summarises the current state of the art on ARVC diagnosis and risk stratification. Read More

View Article and Full-Text PDF

Intersection of Heart Failure and Pregnancy: Beyond Peripartum Cardiomyopathy.

Circ Heart Fail 2021 May 13;14(5):e008223. Epub 2021 May 13.

Division of Cardiology, Smidt Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA (M.M.K.).

Heart failure (HF) is a leading cause of morbidity and mortality in pregnant women in the United States. Although peripartum cardiomyopathy is the most common diagnosis for pregnant women with HF, women with preexisting cardiomyopathies and systolic dysfunction are also at risk as the hemodynamic demands of pregnancy can lead to decompensation, arrhythmia, and rarely death. The differential diagnosis of HF in pregnancy is broad and includes Takotsubo or stress cardiomyopathy, exacerbation of a preexisting cardiomyopathy, such as familial cardiomyopathy, hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, or left ventricular noncompaction. Read More

View Article and Full-Text PDF

[Analysis of DSG2, TTN and GATA4 gene variants in patients with Brugada syndrome from Henan].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 May;38(5):488-491

Second Department of Cardiology, Xinxiang Central Hospital, Xinxiang, Henan 453000, China.

Objective: To explore the correlation between DSG2, TTN and GATA4 genes and Brugada syndrome in Henan Province of China.

Methods: From February 2017 to February 2019, 100 patients with Brugada syndrome and 100 healthy individuals were selected as the study and the control groups, respectively. Electrocardiogram and echocardiography were carried out, and peripheral blood samples was collected. Read More

View Article and Full-Text PDF

Echocardiographic evaluation of the Athlete's heart.

Echocardiography 2021 Jun 10;38(6):1002-1016. Epub 2021 May 10.

Department of Medicine, Division of Cardiology, University of Texas Medical Branch, Galveston, TX, USA.

Cardiac response to prolonged, intense exercise induces phenotypic and physiologic adaptive changes that improve myocardial ability to meet oxygen demands. These adaptations, termed "athletes' heart," have been extensively studied. The importance of this entity arises from the increasing numbers of athletes as well as the drive for physical fitness in the general population leading to adaptive cardiac changes that need to be differentiated from life-threatening cardiovascular diseases. Read More

View Article and Full-Text PDF