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J Pers Med 2022 Jan 31;12(2). Epub 2022 Jan 31.

Department of Cardiovascular and Thoracic Surgery, "Iuliu Hatieganu" University of Medicine and Pharmacy Cluj Napoca, 8, Victor Babes, St., 400012 Cluj-Napoca, Romania.

Arrhythmogenic right ventricular dysplasia (ARVD) is a rare genetic condition of the myocardium, with a significantly high risk of sudden death. Recent genetic research and improved understanding of the pathophysiology tend to change the ARVD definition towards a larger spectrum of myocardial involvement, which includes, in various proportions, both the right (RV) and left ventricle (LV), currently referred to as ACM (arrhythmogenic cardiomyopathy). Its pathological substrate is defined by the replacement of the ventricular myocardium with fibrous adipose tissue that further leads to inadequate electrical impulses and translates into varies degrees of malignant ventricular arrythmias and dyskinetic myocardium movements. Read More

JACC Case Rep 2021 Sep 15;3(12):1463-1467. Epub 2021 Sep 15.

Department of Cardiology, Loma Linda University Health, Loma Linda, California, USA.

Uhl's anomaly is a rare congenital heart disease characterized by partial or complete absence of the right ventricle myocardium. We report the first case, in a 21-year-old man, of Uhl's anomaly-associated left ventricular noncompaction. This association represents a unique clinical entity and has important implications for management strategies. Read More

J Cardiovasc Magn Reson 2021 05 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

Card Electrophysiol Clin 2020 09 8;12(3):329-343. Epub 2020 Jul 8.

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

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease characterized by progressive fibrofatty replacement of the myocardium, right ventricular enlargement, and malignant ventricular arrhythmias. Ventricular tachycardia (VT) may be seen in all stages of the disease and is associated with sudden cardiac death. In patients who failed anti-arrhythmic medical therapy, catheter ablation has become an attractive therapeutic option to reduce VT burden and implantable cardioverter-defibrillator interventions. Read More

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

Neurol India 2019 Nov-Dec;67(6):1528-1531

Department of Cardiology, Amrita Institute of Medical Sciences, Kochi, Kerala, India.

Arrhythmogenic right ventricular dysplasia (ARVD) is an underdiagnosed cardiomyopathy which commonly presents in young adults with ventricular tachycardia or sudden cardiac death. We report a case of ARVD presenting with features of acute ischemic cerebrovascular stroke. The suspicion of ARVD came only when the echocardiogram revealed dilatation and abnormal wall motion of the right ventricle in the presence of certain ECG findings consistent with ARVD. Read More

Sci Rep 2019 10 2;9(1):14235. Epub 2019 Oct 2.

Department of Radiology, Key Laboratory of Birth Defects and Related Diseases of Women and Children of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, China.

The aim of this study was to investigate left ventricular (LV) global myocardial strain and LV involvement characteristics in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and to evaluate their predictive value of adverse cardiac events. Sixty consecutive ARVD/C patients with a definite diagnosis of ARVD/C who underwent CMR examination and thirty-four healthy controls were enrolled retrospectively. The CMR images were analyzed for LV myocardial strain and the presence of LV involvement. Read More

Anatol J Cardiol 2019 Aug;22(2):60-67

Departments of Pediatric Cardiology,Sağlık Bilimleri University, Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Center; İstanbul-Turkey.

Objective: Arrhythmogenic right ventricular dysplasia (ARVD) is a myocardial genetic disease that occurs primarily in the right ventricle. Patients with ARVD may present with severe ventricular arrhythmias, syncope, and cardiac arrest. The purpose of this study is to evaluate the clinical features and arrhythmic complications of patients with pediatric-onset ARVD. Read More

J Cardiovasc Electrophysiol 2019 10 1;30(10):2020-2026. Epub 2019 Aug 1.

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

Introduction: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited progressive cardiomyopathy characterized by frequent life-threatening arrhythmias. The diagnosis of ARVC is challenging and is on the basis of a set of major and minor criteria as described by the modified Task Force Criteria (TFC). We report our clinical experience in a series of patients who were misdiagnosed with ARVC and subsequently underwent removal of their implantable cardioverter defibrillator (ICD) after a re-evaluation at our center. Read More

Clin Case Rep 2019 Apr 19;7(4):686-688. Epub 2019 Feb 19.

Department of Electrophysiology, Heart Center University of Leipzig Leipzig Germany.

This case emphasizes the value of cardiac MRI and genetic testing in the early phase of ARVD/C. It also emphasizes the increased risk of SCD for patients with ARVD/C participating in competitive sports, even with immediate cardiopulmonary resuscitation. Read More

Anatol J Cardiol 2018 Nov;20(5):296-302

Scientific Laboratory of Molecular Genetics, Riga Stradins University; Riga-Latvia.

Objective: The Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD-C) registry was established to determine the genetic background of ARVD-C for analyzing discovered genetic variation frequencies in the European and Latvian populations.

Methods: In total, 38 patients with suspected ARVD-C were selected. The clinical parameters were defined according to the ARVD-C guidelines, PKP2 and DSG2 gene analysis was performed using the Sanger sequencing. Read More

Med Sci (Basel) 2018 Sep 19;6(3). Epub 2018 Sep 19.

Department of Radiology, Tehran University of Medical Sciences, Tehran 1995614331, Iran.

Arrhythmogenic right ventricular dysplasia (ARVD) is an abnormality in the right side of the heart that may lead to sudden death. The study aims to compare cardiac MRI (magnetic resonance imaging findings) with echocardiography in patients with ARVD. For the cross-sectional study, patients with ARVD that were diagnosed using Task Force criteria were included, and their cardiac MRI findings were evaluated. Read More

Radiology 2018 12 21;289(3):641-648. Epub 2018 Aug 21.

From the Russell H. Morgan Department of Radiology and Radiological Sciences (M.A.G., J.E., I.R.K., S.L.Z.) and Division of Cardiology (A.S.J.M.T.R., C.A.J., C.T., B.M., B.G.K., H.T., H.C.), Johns Hopkins University School of Medicine, 600 N Wolfe St, Halsted B180, Baltimore, MD 21287; Division of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands (A.S.J.M.T.R.); Netherlands Heart Institute, Utrecht, the Netherlands (A.S.J.M.T.R.); and Department of Medicine/Cardiology, Krannert Institute of Cardiology, Indiana University School of Medicine, Indianapolis, Ind (H.S.V.C.).

Purpose To compare epicardial fat in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) with that in healthy subjects. Materials and Methods In this retrospective study, cardiac CT scans in 44 patients with ARVD/C (mean age, 39 years ± 12; 23 men) were compared with those in 45 control group participants between January 2008 and July 2015. Volumes of intrathoracic adipose tissue, mediastinal adipose tissue (MAT), and total epicardial adipose tissue (EAT) were quantified. Read More

J Am Coll Cardiol 2018 08;72(7):784-804

APHP, Pitié-Salpêtrière University Hospital, Institute of Cardiology, Paris, France; Centre de Référence des Maladies Cardiaques Héréditaires, Paris, France; Institute of Cardiometabolism and Nutrition (ICAN), Paris, France.

Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an inherited cardiomyopathy that can lead to sudden cardiac death and heart failure. Our understanding of its pathophysiology and clinical expressivity is continuously evolving. The diagnosis of ARVC/D remains particularly challenging due to the absence of specific unique diagnostic criteria, its variable expressivity, and incomplete penetrance. Read More

Clin Cardiol 2018 Mar 25;41(3):300-306. Epub 2018 Mar 25.

Service Rythmologie, Hôpital Cardiologique Louis Pradel, Hospices Civils de Lyon, Lyon, France.

Arrhythmogenic right ventricular dysplasia (ARVD) is a rare cardiomyopathy characterized by the progressive replacement of cardiomyocytes by fatty and fibrous tissue in the right ventricle (RV). These infiltrations lead to cardiac electrical instability and ventricular arrhythmia. Current treatment for ARVD is empirical and essentially based on treatment of arrhythmia. Read More

JACC Cardiovasc Imaging 2019 03 14;12(3):456-457. Epub 2018 Mar 14.

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

JACC Cardiovasc Imaging 2019 03 14;12(3):446-455. Epub 2018 Mar 14.

Department of Cardiology, Division Heart and Lungs, University Medical Center Utrecht, Utrecht, the Netherlands. Electronic address:

Objectives: The aim of this study was to investigate the prognostic value of echocardiographic deformation imaging in arrhythmogenic right ventricular cardiomyopathy (ARVC) to optimize family screening protocols.

Background: ARVC is characterized by variable disease expressivity among family members, which complicates family screening protocols. Previous reports have shown that echocardiographic deformation imaging detects abnormal right ventricular (RV) deformation in the absence of established disease expression in ARVC. Read More

Int J Cardiol 2018 05;258:172-178

Sorbonne Universités, UPMC Univ Paris 06 Faculté de Médecine, Paris, France; Service de Gynécologie Obstétrique, APHP, Hôpital de la Pitié Salpêtrière, F-75013 Paris, France.

Introduction: The prognosis of pregnancy in patients with Arrhythmogenic Right Ventricular Cardiomyopathy/dysplasia (ARVC/D) is poorly documented. The aim of this study is to assess the cardiac risks during pregnancy and the impact of ARVC/D on fetuses/neonates/children.

Methods: We included all ARVC/D women with a history of pregnancy from the ARVC/D Pitié-Salpêtrière registry. Read More

Oxf Med Case Reports 2018 Jan 25;2018(1):omx088. Epub 2018 Jan 25.

Cardiology-Rehabilitation, 5th Department of Internal Medicine, 'Iuliu Hatieganu' University of Medicine and Pharmacy, Cluj-Napoca, Romania.

Arrhythmogenic right ventricular dysplasia/cardiomyopathy is a genetic disorder characterized by fibrofattty replacement of the right ventricular myocardium. In the revised 2010 Task Force Criteria, a major criteria for ARVD/C is the presence of RV aneurysm by 2D echo. Our report demonstrates that intracardiac ultrasound can detect RV aneurysms and also focal absence of trabeculations which brings additional value to the diagnosis of ARVD/C. Read More

Glob Cardiol Sci Pract 2016 Dec 30;2016(4):e201639. Epub 2016 Dec 30.

Department of Cardiology, University of Bristol, Bristol, UK.

Arrhythmogenic right ventricular dysplasia (ARVD) is an inheritable heart muscle disease that predominantly affects the right ventricle (RV) and predisposes to ventricular arrhythmias and sudden cardiac death (SCD). The natural history is predominantly related to ventricular electric instability which may lead to arrhythmic SCD, mostly in young people and athletes, but may progress with significant RV muscle disease and left-ventricular (LV) involvement and can result in right or biventricular heart failure. We report on a 54-year-old male with ARVD who underwent an epicardial ventricular tachycardia (VT) ablation using remote magnetic navigation (RMN) after functional imaging from a nuclear perfusion study was fused with a 3D segmentation from computed tomography (CT) imaging. Read More

J Cardiovasc Magn Reson 2017 Sep 1;19(1):66. Epub 2017 Sep 1.

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

Background: Regional right ventricular (RV) dysfunction is the hallmark of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C), but is currently only qualitatively evaluated in the clinical setting. Feature Tracking Cardiovascular Magnetic Resonance (FT-CMR) is a novel quantitative method that uses cine CMR to calculate strain values. However, most prior FT-CMR studies in ARVD/C have focused on global RV strain using different software methods, complicating implementation of FT-CMR in clinical practice. Read More

Rev Cardiovasc Med 2017 ;18(1):37-43

Baylor University Medical Center and Baylor Heart and Vascular Hospital, Dallas, TX.

We report a case of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVD) in order to evaluate the course of an under-recognized form of cardiomyopathy with a vast array of clinical manifestations. The patient is a 49-year-old white woman transferred from an outside hospital due to dyspnea and persistent hypoxia. She had a pertinent family history that included a sister who died suddenly in her 30s from unexplained heart failure. Read More

Rev Port Cardiol 2017 Mar 15;36(3):217.e1-217.e10. Epub 2017 Feb 15.

Serviço de Endocrinologia, Hospital de Santa Maria/CHLN, Lisboa, Portugal; Departamento de Medicina, Hospital de Santa Maria/CHLN, Faculdade de Medicina de Lisboa, Lisboa, Portugal. Electronic address:

A 67-year-old man was admitted to our hospital after episodes of syncope preceded by malaise and diffuse neck and chest discomfort. No family history of cardiac disease was reported. Laboratory workup was within normal limits, including D-dimers, serum troponin I and arterial blood gases. Read More

Med J Malaysia 2016 Dec;71(6):357-359

Penang Hospital, Paediatric Cardiology Department, Jalan Residensi, 10990 Georgetown, Penang, Malaysia.

A 10-year-old well and asymptomatic female was referred for screening of acute right ventricular dilatation (ARVD) as she had an elder brother diagnosed with ARVD whom died of sudden cardiac death. Electrocardiography (ECG), transthoracic echocardiography (TTE) and cardiac magnetic resonance imaging (CMR) were performed. Results of these investigations were suggestive of ARVD. Read More

Cardiovasc Res 2017 01;113(1):102-111

Leon H. Charney Division of Cardiology, New York University School of Medicine, 550 First Avenue, New York, NY, USA.

Aims: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is often associated with desmosomal mutations. Recent studies suggest an interaction between the desmosome and sodium channel protein Na1.5. Read More

BMC Cardiovasc Disord 2016 11 21;16(1):230. Epub 2016 Nov 21.

Department of Advanced Biomedical Sciences, University "Federico II", Via Pansini, 5, 80123, Naples, Italy.

Background: Arrhythmogenic right ventricular dysplasia (ARVD), is a genetic disorder of the heart, which mainly involves the right ventricle. It is characterized by hypokinetic areas at the free wall of the right ventricle (RV) or both ventricles, where myocardium is replaced by fibrous or fatty tissue. ARVD is an important cause of ventricular arrhythmias in children and young adults. Read More

Echocardiography 2016 Nov 7;33(11):1683-1688. Epub 2016 Sep 7.

Cardiology Department, Kartal Kosuyolu Heart Research and Training Hospital, Istanbul, Turkey.

Background: Arrhythmogenic right ventricular dysplasia (ARVD) is characterized by the progressive replacement of ventricular myocytes with variable amounts of fibrous and adipose tissue. Several studies have suggested that speckle tracking echocardiographic (STE) parameters such as strain (S) and strain rate (SR) may prove useful in the early detection of right ventricular (RV) dysfunction. Therefore, the aim of this study was to evaluate RV myocardial function using the STE method in both asymptomatic and symptomatic patients with ARVD and to assess its potential role in the differential diagnosis of these two presentations. Read More

J Cardiovasc Electrophysiol 2016 12 6;27(12):1420-1428. Epub 2016 Oct 6.

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

Introduction: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is associated with desmosomal mutations. Although desmosomal disruption affects both ventricles and atria, little is known about atrial involvement in ARVD/C.

Objective: To describe the extent and clinical significance of structural atrial involvement and atrial arrhythmias (AA) in ARVD/C stratified by genotype. Read More

Radiology 2016 08 11;280(2):405-12. Epub 2016 Mar 11.

From The Russell H. Morgan Department of Radiology and Radiological Sciences (N.R., I.R.K., S.L.Z.) and Division of Cardiology (A.S.J.M.T.R., C.A.J., A.B., B.M., C.T., H.C., H.T.), Johns Hopkins University School of Medicine, 733 N Broadway, Baltimore, MD 21205; and Department of Radiology and Imaging Sciences, National Institutes of Health Clinical Center, Bethesda, Md (D.A.B.).

Purpose To determine the incidence of ventricular fatty replacement and late gadolinium enhancement (LGE) at cardiac magnetic resonance (MR) imaging in patients with arrhythmogenic right ventricular (RV) dysplasia/cardiomyopathy (ARVD/C) and the relationship of these findings to disease severity. Materials and Methods This was a retrospective institutional review board-approved HIPAA-compliant study. All subjects provided written informed consent. Read More

J Cardiovasc Electrophysiol 2016 Mar 14;27(3):303-14. Epub 2016 Jan 14.

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

Introduction: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is characterized by high incidence of ventricular arrhythmias. Overt ARVD/C is preceded by a subclinical stage with lack of detectable ECG and structural abnormalities. Activation delay is present before structural abnormalities and is a hallmark of arrhythmogenesis. Read More