3,528 results match your criteria Arrhythmogenic Right Ventricular Cardiomyopathy


Prevalence of sudden arrhythmic death syndrome-related genetic mutations in an Asian cohort of whole genome sequence.

Europace 2020 Jun 28. Epub 2020 Jun 28.

Division of Cardiology, Department of Internal Medicine and Cardiovascular center, National Taiwan University College of Medicine and Hospital, No. 7, Chung-Shan South Road, Taipei 100, Taiwan.

Aims: Recently, the spectrum of background mutation in the genes implicated in sudden arrhythmic death syndrome (SADS), has been elucidated in the Caucasian populations. However, this information is largely unknown in the Asian populations.

Methods And Results: We assessed the background rare variants (minor allele frequency < 0. Read More

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http://dx.doi.org/10.1093/europace/euaa092DOI Listing

Left-dominant arrhythmogenic cardiomyopathy with a nonsense mutation in DSP.

ESC Heart Fail 2020 Jun 27. Epub 2020 Jun 27.

Department of Cardiovascular Medicine and Diagnostic Radiology, Faculty of Life Sciences, Graduate School of Medical Sciences, Kumamoto University, 1-1-1, Honjo, Chuo-ku, Kumamoto, 860-8556, Japan.

A 74-year-old man had abnormal left ventricular (LV) function according to a perioperative test at a local hospital and was transferred to our institution for further evaluation and treatment. His electrocardiogram demonstrated the presence of premature ventricular contraction with a QRS complex of the right bundle branch block type and superior axis. His echocardiography showed systolic dysfunction of the LV (LV ejection fraction, 44. Read More

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http://dx.doi.org/10.1002/ehf2.12790DOI Listing

Telethonin variants found in Brugada syndrome, J-wave pattern ECG and ARVC reduce peak Na 1.5 currents in HEK-293 cells.

Pacing Clin Electrophysiol 2020 Jun 25. Epub 2020 Jun 25.

Krannert Institute of Cardiology, Department of Medicine, Indiana University School of Medicine, Indianapolis, IN.

Background: Telethonin (TCAP) is a Z-disk protein that maintains cytoskeletal integrity and various signaling pathways in cardiomyocytes. TCAP is shown to modulate α-subunit of the human cardiac sodium channel (hNa 1.5) by direct interactions. Read More

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http://dx.doi.org/10.1111/pace.13996DOI Listing

Exercise restriction is protective for genotype-positive family members of arrhythmogenic right ventricular cardiomyopathy patients.

Europace 2020 Jun 23. Epub 2020 Jun 23.

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

Aims: In arrhythmogenic right ventricular cardiomyopathy (ARVC) patients, exercise worsens disease course, so exercise restriction is recommended. However, recommendations for genotype-positive ARVC family members is incompletely resolved. We aimed to provide evidence for exercise recommendations for genotype-positive ARVC family members. Read More

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http://dx.doi.org/10.1093/europace/euaa105DOI Listing

Congenital heart disease combined with Arrhythmogenic Right Ventricular Cardiomyopathy: A CARE compliant case report and literature review.

Medicine (Baltimore) 2020 Jun;99(25):e20279

Department of Cardiology, The Second Xiangya Hospital, Central South University, Changsha, Hunan Province, China.

Rationale: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary cardiomyopathy disease discovered in 1994. Though there are advances in diagnosis of arrhythmogenic right ventricular cardiomyopathy, early diagnosis is still difficult especially when it is combined with other diseases with similar pathophysiologic changes, such as left to right shunt congenital heart disease (CHD). In this paper, we reported a case of CHD combined with ARVC. Read More

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http://dx.doi.org/10.1097/MD.0000000000020279DOI Listing

Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria.

Int J Cardiol 2020 Jun 16. Epub 2020 Jun 16.

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

The original designation of "Arrhythmogenic right ventricular (dysplasia/) cardiomyopathy"(ARVC) was used by the scientists who first discovered the disease, in the pre-genetic and pre-cardiac magnetic resonance era, to describe a new heart muscle disease predominantly affecting the right ventricle, whose cardinal clinical manifestation was the occurrence of malignant ventricular arrhythmias. Subsequently, autopsy investigations, genotype-phenotype correlations studies and the increasing use of contrast-enhancement cardiac magnetic resonance showed that the fibro-fatty replacement of the myocardium represents the distinctive phenotypic feature of the disease that affects the myocardium of both ventricles, with left ventricular involvement which may parallel or exceed the severity of right ventricular involvement. This has led to the new designation of "Arrhythmogenic Cardiomyopathy" (ACM), that represents the evolution of the original term of ARVC. Read More

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http://dx.doi.org/10.1016/j.ijcard.2020.06.005DOI Listing
June 2020
4.036 Impact Factor

Electroanatomical Voltage Mapping to Distinguish Right-Sided Cardiac Sarcoidosis From Arrhythmogenic Right Ventricular Cardiomyopathy.

JACC Clin Electrophysiol 2020 Jun 29;6(6):696-707. Epub 2020 Apr 29.

Department of Cardiology, Willem Einthoven Center for Cardiac Arrhythmia Research and Management, Leiden University Medical Center, Leiden, the Netherlands. Electronic address:

Objectives: This study sought to investigate the value of electroanatomical voltage mapping (EAVM) to distinguish cardiac sarcoidosis (CS) from arrhythmogenic right ventricular cardiomyopathy (ARVC) in patients with ventricular tachycardia from the right ventricle (RV).

Background: CS can mimic ARVC. Because scar in ARVC is predominantly subepicardial, this study hypothesized that the relative sizes of endocardial low bipolar voltage (BV) to low unipolar voltage (UV) areas may distinguish CS from ARVC. Read More

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http://dx.doi.org/10.1016/j.jacep.2020.02.008DOI Listing

Automatic Detection of Slow Conducting Channels during Substrate Ablation of Scar-Related Ventricular Arrhythmias.

J Interv Cardiol 2020 29;2020:4386841. Epub 2020 May 29.

Teknon Medical Center, Barcelona, Spain.

Background: Voltage mapping allows identifying the arrhythmogenic substrate during scar-related ventricular arrhythmia (VA) ablation procedures. Slow conducting channels (SCCs), defined by the presence of electrogram (EGM) signals with delayed components (EGM-DC), are responsible for sustaining VAs and constitute potential ablation targets. However, voltage mapping, as it is currently performed, is time-consuming, requiring a manual analysis of all EGMs to detect SCCs, and its accuracy is limited by electric far-field. Read More

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http://dx.doi.org/10.1155/2020/4386841DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275947PMC

Cardiovascular magnetic resonance clarifies arrhythmogenicity in asymptomatic young athletes with ventricular arrhythmias undergoing pre-participation evaluation.

Exp Ther Med 2020 Jul 29;20(1):561-571. Epub 2020 Apr 29.

Onassis Cardiac Surgery Center, Athens 17674, Greece.

Pre-participation sports examination (PPE) is a frequent reason for consultation. However, the exact role of cardiovascular magnetic resonance (CMR) in PPE remains undefined. The additive value of CMR in adolescent athletes with ventricular rhythm disturbances (VRDs) was investigated. Read More

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http://dx.doi.org/10.3892/etm.2020.8693DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7282016PMC

Right ventricular electromechanical abnormalities in Brugada syndrome: is this a cardiomyopathy?

Eur Heart J Suppl 2020 Jun 25;22(Suppl E):E101-E104. Epub 2020 Mar 25.

Arrhythmology and Electrophysiology Department, IRCCS Policlinico San Donato, San Donato Milanese, Milano, Italy.

Brugada syndrome (BrS) has been often described as a purely electrical disease. However, current dogma surrounding this concept has shifted to accept that BrS is associated with structural abnormalities. Brugada syndrome is now associated with epicardial surface and interstitial fibrosis, reduced gap junction expression, increased collagen, and reduced contractility. Read More

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http://dx.doi.org/10.1093/eurheartj/suaa071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7270919PMC

[T-wave inversion in the precordial leads: сardiac and non-cardiac causes].

Authors:
I R Tsoy I P Kolos

Kardiologiia 2020 Jun 3;60(5):668. Epub 2020 Jun 3.

Federal Medical Center of the Federal Agency for State Property Management, Moscow, Russia.

The T-wave inversion (TWI) is a common electrocardiographic finding. Causes for TWI are numerous and sometimes TWI may appear in life-threatening conditions. The aim of this review was to provide an up-to-date analysis of TWI, including i) definition and prevalence; ii) causes, and iii) differential diagnosis in benign TWI, reversible myocardial ischemia of the left ventricular anterior wall; takotsubo cardiomyopathy; subarachnoid hemorrhage; pulmonary embolism; right ventricular arrhythmogenic cardiomyopathy; and "cardiac memory". Read More

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http://dx.doi.org/10.18087/cardio.2020.5.n668DOI Listing

Congratulations Frank Marcus On His Retirement at the Age of 92.

Heart Rhythm 2020 Jun 5. Epub 2020 Jun 5.

Netherlands Heart Institute and Department of Cardiology, University Medical Center, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.hrthm.2020.06.003DOI Listing

Absence of ECG Task Force Criteria does not rule out structural changes in genotype positive ARVC patients.

Int J Cardiol 2020 Jun 3. Epub 2020 Jun 3.

Center for Cardiological Innovation, Department of Cardiology, Oslo University Hospital, Rikshospitalet, Norway; Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway. Electronic address:

Aims: In Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), electrophysiological pathology has been claimed to precede morphological and functional pathology. Accordingly, an ECG without ARVC markers should be rare in ARVC patients with pathology identified by cardiac imaging. We quantified the prevalence of ARVC patients with evidence of structural disease, yet without ECG Task Force Criteria (TFC). Read More

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http://dx.doi.org/10.1016/j.ijcard.2020.05.095DOI Listing

Risk Stratification in Arrhythmogenic Right Ventricular Cardiomyopathy: Not a One-Size-Fits-All Strategy.

J Am Coll Cardiol 2020 Jun;75(22):2766-2768

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

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http://dx.doi.org/10.1016/j.jacc.2020.04.030DOI Listing

Prognostic Value of Magnetic Resonance Phenotype in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy.

J Am Coll Cardiol 2020 Jun;75(22):2753-2765

Cardio-thoraco-vascular Department, University of Trieste, Trieste, Italy.

Background: Cardiac magnetic resonance (CMR) is widely used to assess tissue and functional abnormalities in arrhythmogenic right ventricular cardiomyopathy (ARVC). Recently, a ARVC risk score was proposed to predict the 5-year risk of malignant ventricular arrhythmias in patients with ARVC. However, CMR features such as fibrosis, fat infiltration, and left ventricular (LV) involvement were not considered. Read More

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http://dx.doi.org/10.1016/j.jacc.2020.04.023DOI Listing

Endo-epicardial ablation vs endocardial ablation for the management of ventricular tachycardia in arrhythmogenic right ventricular cardiomyopathy: A systematic review and meta-analysis.

J Cardiovasc Electrophysiol 2020 Jun 1. Epub 2020 Jun 1.

Division of Cardiology, Department of Medicine, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York.

Background: The pathologic process of ARVC (arrhythmogenic right ventricular cardiomyopathy) typically originates in the epicardium or subepicardial layers with progression toward endocardium. However, in the most recent ARVC international task force consensus statement, epicardial ventricular tachycardia (VT) ablation is recommended as a Class I indication only in patients with at least one failed endocardial VT ablation attempt.

Objective: The aim of this meta-analysis is to assess the outcomes of ARVC patients undergoing combined endo-epicardial VT ablation, as compared to endocardial ablation alone. Read More

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http://dx.doi.org/10.1111/jce.14593DOI Listing

Ventricular Tachycardia in Structural Heart Disease.

J Innov Card Rhythm Manag 2019 Aug 15;10(8):3762-3773. Epub 2019 Aug 15.

Cardiac Electrophysiology Department, Cardiovascular Division, Department of Medicine, University of Virginia Health System, Charlottesville, VA, USA.

Patients with structural heart disease (SHD) are at risk of ventricular tachycardia (VT), which can be difficult to manage clinically. Many treatment options are currently available, but no single approach can be applied with 100% perfect results; often, a combination of therapies is required to achieve good control of ventricular arrhythmias. Coronary artery disease with previous myocardial infarction (MI) is the most common form of SHD presenting with VT, with scar-mediated reentry being the predominant mechanism. Read More

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http://dx.doi.org/10.19102/icrm.2019.100801DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7252751PMC

Catheter Ablation of Scar-mediated Ventricular Tachycardia: Are Substrate-based Approaches Replacing Mapping?

Authors:
Richard H Hongo

J Innov Card Rhythm Manag 2019 Jun 15;10(6):3707-3715. Epub 2019 Jun 15.

Atrial Fibrillation and Complex Arrhythmia Center, California Pacific Medical Center, San Francisco, CA, USA.

Scar-mediated ventricular tachycardia (VT) is a recognized cause of morbidity and mortality in patients with ischemic cardiomyopathy and other cardiomyopathies such as nonischemic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, and cardiac sarcoidosis. Implantable cardioverter-defibrillator (ICD) therapy improves survival but does not prevent the onset of recurrent VT or associated morbidity from ICD shocks. While randomized controlled trials have demonstrated advantages of scar-mediated VT ablation in comparison with antiarrhythmic drugs, procedural success has remained overall modest at between 50% and 70%. Read More

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http://dx.doi.org/10.19102/icrm.2019.100603DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7252775PMC

[Anesthetic management in a patient with arrhythmogenic right ventricular cardiomyopathy and an implantable cardioverter defibrillator: a case report].

Rev Bras Anestesiol 2020 May 13. Epub 2020 May 13.

Meikai University School of Dentistry, Department of Diagnostic and Therapeutic Sciences, First Division of Oral and Maxillofacial Surgery, Sakado-Shi, Japan.

Background And Objectives: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic cardiomyopathy characterized by potentially lethal ventricular tachycardia. Here we describe a patient with ARVC and an Implantable Cardioverter Defibrillator (ICD) in whom maxillary sinus surgery was performed under general anesthesia.

Case Report: The patient was a 59 year-old man who was scheduled to undergo maxillary sinus surgery under general anesthesia. Read More

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http://dx.doi.org/10.1016/j.bjan.2020.02.002DOI Listing

Plasma testosterone and arrhythmic events in male patients with arrhythmogenic right ventricular cardiomyopathy.

ESC Heart Fail 2020 May 29. Epub 2020 May 29.

State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Aims: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with life-threatening ventricular arrhythmia and progressive ventricular dysfunction. Previous studies suggested that sex hormones play an important role in the onset and prognosis of ARVC. This study aimed to investigate the role of testosterone in predicting major adverse cardiac events in the Chinese ARVC cohort. Read More

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http://dx.doi.org/10.1002/ehf2.12704DOI Listing

A Population-Based Registry of Patients With Inherited Cardiac Conditions and Resuscitated Cardiac Arrest.

J Am Coll Cardiol 2020 Jun;75(21):2698-2707

Greenlane Paediatric and Congenital Cardiac Services, Starship Children's Hospital, Auckland, New Zealand; Cardiac Inherited Disease Group, Auckland, New Zealand; Department of Paediatrics Child and Youth Health, University of Auckland, Auckland, New Zealand. Electronic address:

Background: The relative proportion of each cardiac inherited disease (CID) causing resuscitated sudden cardiac arrest (RSCA) on a population basis is unknown.

Objectives: This study describes the profile of patients with CIDs presenting with RSCA; their data were collected by the national Cardiac Inherited Diseases Registry New Zealand (CIDRNZ).

Methods: Data were collated from CIDRNZ probands presenting with RSCA (2002 to 2018). Read More

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http://dx.doi.org/10.1016/j.jacc.2020.04.004DOI Listing

Concealed structural heart disease discovered at cardiac magnetic resonance in patients with ventricular extrasystoles from ventricular outflow tract and apparently normal hearts.

J Interv Card Electrophysiol 2020 May 27. Epub 2020 May 27.

Department of Medical & Surgical Sciences, University of Foggia, Foggia, Italy.

Background: Outflow tract (OT) premature ventricular contractions (PVCs) are commonly found in clinical practice; in most cases, PVCs are benign and observed in structurally normal hearts, not requiring any therapeutic intervention. In this study, we therefore sought to evaluate with cardiac magnetic resonance (CMR) patients with PVC and apparently normal heart at echocardiographic examination, in order to identify possible substrates linked with higher prevalence of arrhythmias or structural heart disease.

Methods: Thirty-three consecutive patients with frequent PVCs originating from the ventricular OT (right and left) were enrolled in the study and assessed by echocardiography and CMR. Read More

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http://dx.doi.org/10.1007/s10840-020-00771-5DOI Listing

A head-to-head comparison of speckle tracking echocardiography and feature tracking cardiovascular magnetic resonance imaging in right ventricular deformation.

Eur Heart J Cardiovasc Imaging 2020 May 27. Epub 2020 May 27.

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

Aims: Speckle tracking echocardiography (STE) and feature tracking cardiovascular magnetic resonance imaging (FT-CMR) are advanced imaging techniques which are both used for quantification of global and regional myocardial strain. Direct comparisons of STE and FT-CMR regarding right ventricular (RV) strain analysis are limited. We aimed to study clinical performance, correlation and agreement of RV strain by these techniques, using arrhythmogenic right ventricular cardiomyopathy (ARVC) as a model for RV disease. Read More

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http://dx.doi.org/10.1093/ehjci/jeaa088DOI Listing

Presence and prognostic value of ventricular diastolic function in arrhythmogenic right ventricular cardiomyopathy.

Echocardiography 2020 May 27. Epub 2020 May 27.

Echocardiography Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.

Introduction: Limited data exist regarding the presence and importance of diastolic parameters in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC). We sought to evaluate RV diastolic parameters and echo-based diastolic predictors of major adverse cardiovascular events (MACE).

Method: 48 patients with a definitive diagnosis of ARVC were included and followed for 6-18 months. Read More

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http://dx.doi.org/10.1111/echo.14716DOI Listing
May 2020
1.254 Impact Factor

Transforming Growth Factor Beta3 is Required for Cardiovascular Development.

J Cardiovasc Dev Dis 2020 May 24;7(2). Epub 2020 May 24.

Department of Cell Biology and Anatomy, University of South Carolina School of Medicine, Columbia, SC 29209, USA.

Transforming growth factor beta3 () gene mutations in patients of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD1) and Loeys-Dietz syndrome-5 (LDS5)/Rienhoff syndrome are associated with cardiomyopathy, cardiac arrhythmia, cardiac fibrosis, cleft palate, aortic aneurysms, and valvular heart disease. Although the developing heart of embryos express , its overarching role remains unclear in cardiovascular development and disease. We used histological, immunohistochemical, and molecular analyses of fetuses and compared them to wildtype littermate controls. Read More

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http://dx.doi.org/10.3390/jcdd7020019DOI Listing

Parameter subset reduction for patient-specific modelling of arrhythmogenic cardiomyopathy-related mutation carriers in the CircAdapt model.

Philos Trans A Math Phys Eng Sci 2020 Jun 25;378(2173):20190347. Epub 2020 May 25.

Department of Biomedical Engineering, Maastricht University CARIM School for Cardiovascular Diseases, Maastricht, Limburg, The Netherlands.

Arrhythmogenic cardiomyopathy (AC) is an inherited cardiac disease, clinically characterized by life-threatening ventricular arrhythmias and progressive cardiac dysfunction. Patient-specific computational models could help understand the disease progression and may help in clinical decision-making. We propose an inverse modelling approach using the CircAdapt model to estimate patient-specific regional abnormalities in tissue properties in AC subjects. Read More

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http://dx.doi.org/10.1098/rsta.2019.0347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7287326PMC

Clinical and Molecular Data Define a Diagnosis of Arrhythmogenic Cardiomyopathy in a Carrier of a Brugada-Syndrome-Associated Mutation.

Genes (Basel) 2020 May 20;11(5). Epub 2020 May 20.

Cardiac Arrhythmia Research Centre, Centro Cardiologico Monzino IRCCS, 20141 Milan, Italy.

Plakophilin-2 () is the most frequently mutated desmosomal gene in arrhythmogenic cardiomyopathy (ACM), a disease characterized by structural and electrical alterations predominantly affecting the right ventricular myocardium. Notably, ACM cases without overt structural alterations are frequently reported, mainly in the early phases of the disease. Recently, the p. Read More

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http://dx.doi.org/10.3390/genes11050571DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288341PMC

Overcoming challenges in the management of arrhythmogenic right ventricular cardiomyopathy.

Kardiol Pol 2020 May 19;78(5):386-395. Epub 2020 May 19.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) appears in most patients to be an inherited disease characterized by fibrofatty replacement of myocytes extending from the epicardium to the endocardium in the right ventricle. The disease process results in life‑threatening ventricular arrhythmias and ventricular dysfunction. In the absence of a gold‑standard diagnostic test and despite the progress in imaging techniques, ARVC is often misdiagnosed and earlier detection of the disease is challenging. Read More

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http://dx.doi.org/10.33963/KP.15374DOI Listing

[Grey zones in cardiovascular adaptations to physical exercise: how to navigate in the echocardiographic evaluation of the athlete's heart].

G Ital Cardiol (Rome) 2020 Jun;21(6):457-468

Dipartimento CardioToracoVascolare "De Gasperis", ASST Grande Ospedale Metropolitano Niguarda, Milano.

"Athlete's heart" represents a series of mechanisms through which cardiac chambers can adapt to physical activity. Echocardiography has a major role in sports cardiology and it can help physicians to investigate the so-called "grey zones", defined as diagnostic overlaps between athlete's heart and several cardiac diseases: wall thickness and left ventricular size in hypertrophic and dilated cardiomyopathy, ventricular trabeculations in left ventricular non-compaction cardiomyopathy, left atrial size and atrial fibrillation, right ventricular systolic dysfunction in arrhythmogenic right ventricular cardiomyopathy. The use of advanced ultrasound methods such as tissue Doppler and two-dimensional strain can be added to the classic echocardiographic assessment to complete a multi-parametric evaluation, guiding the sports physician and cardiologist in the correct framing of these patients. Read More

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http://dx.doi.org/10.1714/3359.33330DOI Listing

Author response to letter to the editor re: Echocardiographic assessment of right ventricular systolic function in boxers with arrhythmogenic right ventricular cardiomyopathy.

Authors:
S M Cunningham

J Vet Cardiol 2020 06 3;29:76-78. Epub 2020 Apr 3.

Department of Clinical Sciences, Cummings School of Veterinary Medicine, Tufts University, 200 Westboro Road, North Grafton, MA, 01536, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jvc.2020.03.005DOI Listing

Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene.

J Am Heart Assoc 2020 May 15;9(10):e015289. Epub 2020 May 15.

German Center for Cardiovascular Research (DZHK) partner site Berlin Germany.

Background Variants of the desmosomal protein desmoplakin are associated with arrhythmogenic cardiomyopathy, an important cause of ventricular arrhythmias in children and young adults. Disease penetrance of desmoplakin variants is incomplete and variant carriers may display noncardiac, dermatologic phenotypes. We describe a novel cardiac phenotype associated with a truncating desmoplakin variant, likely causing mechanical instability of myocardial desmosomes. Read More

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http://dx.doi.org/10.1161/JAHA.119.015289DOI Listing
May 2020
2.882 Impact Factor

Genotype-Phenotype Correlation: A Triple DNA Mutational Event in a Boy Entering Sport Conveys an Additional Pathogenicity Risk.

Genes (Basel) 2020 May 8;11(5). Epub 2020 May 8.

Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Via Sergio Pansini, 5, 80131 Naples, Italy.

The purpose of this paper is to present a clinical and laboratory study of a family, in which a 12-year-old boy was examined to assess his health status before starting competitive sports. A variety of clinical and instrumental tests were used to evaluate the status of the heart and its functions. Using Sanger sequencing (SS), we sequenced six related genes to verify suspected arrhythmogenic right ventricular cardiomyopathy (ARVC) hypothesized at the cardiac assessment and, subsequently, by a next-generation sequencing (NGS)-based multi-gene panel for more paramount genetic risk of sudden cardiac death (SCD) assessment. Read More

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http://dx.doi.org/10.3390/genes11050524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288460PMC

The importance of chain context in assessing small nucleotide variants in titin: case study of the I10-I11 tandem and its arrhythmic right ventricular cardiomyopathy linked position T2580.

J Biomol Struct Dyn 2020 May 22:1-11. Epub 2020 May 22.

Department of Biology, University of Konstanz, Konstanz, Germany.

Non-synonymous small nucleotide variations (nsSNVs) in the giant muscle protein, titin, have key roles in the development of several myopathologies. Although there is considerable motive to screen at-risk individuals for nsSNVs, to identify patients in early disease stages while therapeutic intervention is still possible, the clinical significance of most titin variations remains unclear. Therefore, there is a growing need to establish methods to classify nsSNVs in a simple, economic and rapid manner. Read More

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http://dx.doi.org/10.1080/07391102.2020.1768148DOI Listing

Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy.

Circulation 2020 Jun 6;141(23):1872-1884. Epub 2020 May 6.

Department of Internal Medicine, Division of Cardiovascular Medicine (E.D.S., P.A., A.S.H.), University of Michigan, Ann Arbor.

Background: Mutations in desmoplakin (), the primary force transducer between cardiac desmosomes and intermediate filaments, cause an arrhythmogenic form of cardiomyopathy that has been variably associated with arrhythmogenic right ventricular cardiomyopathy. Clinical correlates of cardiomyopathy have been limited to small case series.

Methods: Clinical and genetic data were collected on 107 patients with pathogenic mutations and 81 patients with pathogenic plakophilin 2 () mutations as a comparison cohort. Read More

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http://dx.doi.org/10.1161/CIRCULATIONAHA.119.044934DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7286080PMC

The arrhythmogenic right ventricular cardiomyopathy in comparison to the athletic heart.

J Cardiovasc Electrophysiol 2020 Jul 11;31(7):1836-1843. Epub 2020 May 11.

Arrhythmia Section, Cardiology Department, Hospital Clínic, Institut d'Investigaciò August Pi I Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain.

Intense exercise-induced right ventricular remodeling is a potential adaptation of cardiac function and structure. The features of the remodeling may overlap with those of a very early form of arrhythmogenic right ventricular cardiomyopathy (ARVC): at this early stage, it could be difficult to discriminate ARVC, from exercise-induced cardiac adaptation that may develop in normal individuals. The purpose of this paper is to discuss which exercise-induced remodeling may be a pathological or a physiological finding. Read More

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http://dx.doi.org/10.1111/jce.14526DOI Listing

Desmosome-Dyad Crosstalk: An Arrhythmogenic Axis in Arrhythmogenic Right Ventricular Cardiomyopathy.

Circulation 2020 May 4;141(18):1494-1497. Epub 2020 May 4.

Department of Medicine and Cardiovascular Research Center, University of Wisconsin-Madison School of Medicine and Public Health. Madison (F.J.A., H.H.V.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.120.046020DOI Listing

Development of an algorithm for automatic classification of right ventricle deformation patterns in arrhythmogenic right ventricular cardiomyopathy.

Echocardiography 2020 May 3;37(5):698-705. Epub 2020 May 3.

Division of Heart and Lungs, Department of Cardiology, University Medical Center Utrecht, University of Utrecht, Utrecht, The Netherlands.

Background: Different disease stages of arrhythmogenic right ventricular cardiomyopathy (ARVC) can be identified by right ventricle (RV) longitudinal deformation (strain) patterns. This requires assessment of the onset of shortening, (systolic) peak strain, and postsystolic index, which is time-consuming and prone to inter- and intra-observer variability. The aim of this study was to design and validate an algorithm to automatically classify RV deformation patterns. Read More

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http://dx.doi.org/10.1111/echo.14671DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317368PMC

Familial screening in case of acute myocarditis reveals inherited arrhythmogenic left ventricular cardiomyopathies.

ESC Heart Fail 2020 May 1. Epub 2020 May 1.

l'Institut du Thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes, Nantes, France.

Aims: Several data suggest that acute myocarditis could be related to genetic variants involved in familial cardiomyopathies, particularly arrhythmogenic cardiomyopathy, but the management of patients with acute myocarditis and their families regarding their risk for having an associated inherited cardiomyopathy is unclear.

Methods And Results: Families with at least one individual with a documented episode of acute myocarditis and at least one individual with a cardiomyopathy or a history of sudden death were included in the study. Comprehensive pedigree, including genetic testing, and history of these families were analysed. Read More

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http://dx.doi.org/10.1002/ehf2.12686DOI Listing

Letter to the editor re: Echocardiographic assessment of right ventricular systolic function in boxers with arrhythmogenic right ventricular cardiomyopathy.

Authors:
M D Kittleson

J Vet Cardiol 2020 06 4;29:74-75. Epub 2020 Apr 4.

School of Veterinary Medicine, University of California, Davis, 1 Garrod Drive, Davis, CA, 95616, United States. Electronic address:

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http://dx.doi.org/10.1016/j.jvc.2020.03.004DOI Listing

Diagnostic yield in victims of sudden cardiac death and their relatives.

Europace 2020 Jun;22(6):964-971

Department of Cardiology, Rigshospitalet, University Hospital of Copenhagen, Blegdamsvej 9, 2100 Copenhagen, Denmark.

Aims: International guidelines recommend cardiogenetic screening in families with sudden cardiac death (SCD) if the suspected cause is an inherited cardiac disease. The aim was to assess the diagnostic yield of inherited cardiac diseases in consecutively referred SCD families.

Methods And Results: In this single-centre retrospective study, we consecutively included families referred to our tertiary unit between 2005 and 2018 for screening due to SCD. Read More

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http://dx.doi.org/10.1093/europace/euaa056DOI Listing

Monozygotic twins with myocarditis and a novel likely pathogenic desmoplakin gene variant.

ESC Heart Fail 2020 Jun 17;7(3):1210-1216. Epub 2020 Apr 17.

Department of Clinical Genetics and Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.

Myocarditis most often affects otherwise healthy athletes and is one of the leading causes of sudden death in children and young adults. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined heart muscle disorder with increased risk for paroxysmal ventricular arrhythmias and sudden cardiac death. The clinical picture of myocarditis and ARVC may overlap during the early stages of cardiomyopathy, which may lead to misdiagnosis. Read More

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http://dx.doi.org/10.1002/ehf2.12658DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261567PMC

Arrhythmogenic Cardiomyopathy and Sports Activity.

J Cardiovasc Transl Res 2020 Apr 16. Epub 2020 Apr 16.

Department of Cardiac, Thoracic and Vascular Sciences and Public Health, University of Padova, Via Giustiniani, 2, 35128, Padova, Italy.

Arrhythmogenic right-ventricular cardiomyopathy (ARVC) is a genetically determined heart disease characterized by progressive myocyte death and substitution by fibrofatty tissue. Life-threatening ventricular arrhythmias may occur during the course of the disease and are distinctively triggered by sports activity: for this reason, ARVC is one of the leading causes of sudden death in the athlete. Early identification of affected athletes by preparticipation screening in the pre-symptomatic phase is essential, but differential diagnosis with the athlete's heart may be challenging. Read More

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http://dx.doi.org/10.1007/s12265-020-09995-2DOI Listing

Diagnosing arrhythmogenic right ventricular cardiomyopathy by 2010 Task Force Criteria: clinical performance and simplified practical implementation.

Europace 2020 May;22(5):787-796

Netherlands Heart Institute, Moreelsepark 1, 3511 EP Utrecht, the Netherlands.

Aims: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is diagnosed by a complex set of clinical tests as per 2010 Task Force Criteria (TFC). Avoiding misdiagnosis is crucial to prevent sudden cardiac death as well as unnecessary implantable cardioverter-defibrillator implantations. This study aims to validate the overall performance of the TFC in a real-world cohort of patients referred for ARVC evaluation. Read More

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http://dx.doi.org/10.1093/europace/euaa039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203633PMC
May 2020
3.050 Impact Factor

The impact of physical activity modification on the well-being of a cohort of children with an inherited arrhythmia or cardiomyopathy.

Cardiol Young 2020 May 14;30(5):692-697. Epub 2020 Apr 14.

Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.

Background: We evaluated a cohort of 35 children diagnosed with long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, hypertrophic cardiomyopathy, or arrhythmogenic right ventricular cardiomyopathy with regard to physical and psychosocial well-being.

Material And Methods: Patients wore an accelerometer to record their time involved in moderate- to vigorous-intensity physical activity and completed the Pediatric Quality of Life Inventory and the Pediatric Cardiac Quality of Life Inventory. Parents were also asked to describe if their child had changed their physical activity because of their diagnosis and how difficult and upsetting it was for the child to adapt to the physical activity recommendations. Read More

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http://dx.doi.org/10.1017/S1047951120000803DOI Listing

Transesophageal and intracardiac ultrasound in arrhythmogenic right ventricular dysplasia/cardiomyopathy: Two case reports.

Medicine (Baltimore) 2020 Apr;99(15):e19817

5th Department of Internal Medicine, Cardiology-Rehabilitation.

Rationale: Two-dimensional echocardiography (2D echo) is a major tool for the diagnosis of Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). However 2D echo can skip regional localized anomalies of the right ventricular wall. We aimed to determine whether transesophageal and intracardiac ultrasound can provide additional information, on the right ventricular abnormalities compared to 2D echo. Read More

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http://dx.doi.org/10.1097/MD.0000000000019817DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7220632PMC

Prevalence of atrial arrhythmia in patients with arrhythmogenic right ventricular cardiomyopathy: a systematic review and meta-analysis.

J Cardiovasc Med (Hagerstown) 2020 May;21(5):368-376

Clinical Epidemiology Unit, Department of Research and Development, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Background/objectives: Little is known about atrial involvement in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC). Recent studies have suggested that atrial arrhythmia, including atrial fibrillation, atrial flutter (AFL), and atrial tachycardia, was common among these patients although the reported prevalence varied considerably across the studies. The current systematic review and meta-analysis was conducted with the aim of comprehensively investigating the prevalence of overall atrial arrhythmia and each atrial arrhythmia subtype in the setting of ARVC by identifying all relevant studies and combining their results together. Read More

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http://dx.doi.org/10.2459/JCM.0000000000000962DOI Listing

Right Ventricular Strain Predicts Structural Disease Progression in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy.

J Am Heart Assoc 2020 Apr 3;9(7):e015016. Epub 2020 Apr 3.

Johns Hopkins University Baltimore MD.

Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited condition associated with ventricular arrhythmias and myocardial dysfunction; however, limited data exist on identifying patients at highest risk. The purpose of the study was to determine whether measures of right ventricular (RV) dysfunction on echocardiogram including RV strain were predictive of structural disease progression in ARVC. Methods and Results A retrospective analysis of serial echocardiograms from 40 patients fulfilling 2010 task force criteria for ARVC was performed to assess structural progression defined by an increase in proximal RV outflow tract dimensions (parasternal short or long axis) or decrease in RV fractional area change. Read More

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http://dx.doi.org/10.1161/JAHA.119.015016DOI Listing

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) in pregnancy: a case series of nine patients and review of literature.

J Matern Fetal Neonatal Med 2020 Apr 2:1-9. Epub 2020 Apr 2.

Department of Cardiac Sciences, University of Calgary, Calgary, Canada.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic cardiomyopathy characterized by myocardial necrosis and fibrofatty substitution of the myocardium, predominantly of the right ventricle. The evaluation of risk associated with gestation and delivery in patients with ARVC is difficult due to the small number of already reported cases. We present our experience of patients with ARVC who completed a pregnancy and delivery. Read More

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http://dx.doi.org/10.1080/14767058.2020.1745176DOI Listing