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Arvd, arvc, "arrhythmogenic right ventricular dysplasia"

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https://www.readbyqxmd.com/read/28523642/autosomal-recessive-nonsyndromic-arrhythmogenic-right-ventricular-cardiomyopathy-without-cutaneous-involvements-a-novel-mutation
#1
Mahdieh Soveizi, Bahareh Rabbani, Yousef Rezaei, Sedigheh Saedi, Nasim Najafi, Majid Maleki, Nejat Mahdieh
The arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a genetic disease frequently associated with desmosomal mutations, mainly attributed to dominant mutations in the Plakophilin-2 (PKP2) gene. Naxos and Carvajal are the syndromic forms of ARVD/C due to recessive mutations. Herein, we report an autosomal recessive form of nonsyndromic ARVD/C caused by a mutation in the PKP2 gene. After examination and implementation of diagnostic modalities, the definite diagnosis of ARVD/C was confirmed by detection of ventricular tachycardia with a left bundle branch configuration and a superior axis, T-wave inversion in right precordial leads (i...
May 19, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28509892/arrhythmogenic-right-ventricular-dysplasia-an-under-recognized-form-of-inherited-cardiomyopathy
#2
George O Adesina, Shelly A Hall, Jose C Mendez, Susan M Joseph, Robert L Gottlieb, Parag P Kale, Amarinder S Bindra
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. Initial work-up for hypoxia was unrevealing. Transthoracic echocardiography revealed isolated right ventricular dysfunction with dilation and multiple trabeculations...
2017: Reviews in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28167090/ablation-of-ventricular-tachycardia-in-arrhythmogenic-right-ventricular-dysplasia
#3
REVIEW
Rajeev K Pathak, Fermin C Garcia
Endocardial and epicardial electroanatomical mapping and ablation is a safe and effective therapy in the treatment of right ventricle arrhythmias occurring in the setting of arrhythmogenic right ventricular cardiomyopathy (ARVD). Careful mapping and ablation plans must be tailored for each patient based on comorbidities and ventricular tachycardia morphologies. This review focuses on the catheter ablation for ventricular arrhythmias in patients with ARVD.
March 2017: Cardiac Electrophysiology Clinics
https://www.readbyqxmd.com/read/27610610/evaluation-of-tp-e-interval-tp-e-qt-ratio-and-tp-e-qtc-ratio-in-patients-with-asymptomatic-arrhythmogenic-right-ventricular-cardiomyopathy
#4
Elnur Alizade, Mahmut Yesin, Mehmet Vefik Yazicioğlu, Ekrem Bilal Karaayvaz, Adem Atici, Şükrü Arslan, Anıl Avci, Göksel Acar, Mustafa Tabakci, Servet Izci, Selçuk Pala
BACKGROUND: Arrhythmogenic right ventricular dysplasia (ARVD) is characterized by progressive replacement of ventricular myocytes with variable amounts of fibrous and adipose tissue. Several studies have suggested that the interval from the peak to the end of the electrocardiographic T wave (Tp-e) may correspond to the transmural dispersion of repolarization and that increased Tp-e interval and Tp-e/QT ratio are associated with malignant ventricular arrhythmias. The aim of this study was to evaluate repolarization dispersion measured from the 12-lead surface electrocardiogram (including Tp-e interval, Tp-e/QT, and Tp-e/QTc ratio) in asymptomatic ARVD patients METHODS: We selected 27 patients with asymptomatic ARVD and 27 age- and gender-match young, healthy volunteers...
January 2017: Annals of Noninvasive Electrocardiology
https://www.readbyqxmd.com/read/27599902/utility-of-speckle-tracking-echocardiography-imaging-in-patients-with-asymptomatic-and-symptomatic-arrhythmogenic-right-ventricular-cardiomyopathy
#5
Elnur Alizade, Mahmut Yesin, Mehmet Mustafa Tabakci, Anıl Avci, Mustafa Bulut, Göksel Acar, Zeki Şimşek, Servet Izci, Süleyman Barutçu, Selçuk Pala
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...
November 2016: Echocardiography
https://www.readbyqxmd.com/read/26835118/nature-and-nurture-in-arrhythmogenic-right-ventricular-cardiomyopathy-a-clinical-perspective
#6
Cynthia A James
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy characterised by frequent ventricular arrhythmias and slowly progressive predominant RV dysfunction. Up to two-thirds of ARVD/C patients have mutations in genes encoding the cardiac desmosome. Mutations in other genes are increasingly recognised. Inheritance of ARVD/C is generally autosomal dominant with reduced age-related penetrance and significant variable expressivity. While the full explanation for this phenotypic heterogeneity remains unclear, there is increasing evidence that exercise plays a major role in disease penetrance and arrhythmic risk...
December 2015: Arrhythmia & Electrophysiology Review
https://www.readbyqxmd.com/read/26585103/prolonged-electromechanical-interval-unmasks-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy-in-the-subclinical-stage
#7
Thomas P Mast, Arco J Teske, Anneline Sjm Te Riele, Judith A Groeneweg, Jeroen F Van Der Heijden, Birgitta K Velthuis, Peter Loh, Pieter A Doevendans, Toon A Van Veen, Dennis Dooijes, Jacques M De Bakker, Richard N Hauer, Maarten J Cramer
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. Deformation imaging may unmask activation delay in the subclinical stage. METHODS: Three groups were compared: (1) mutation-positive definite ARVD/C-patients fulfilling 2010 Task Force criteria (TFC) (n = 44); (2) asymptomatic mutation carriers not fulfilling TFC and without history of ventricular arrhythmias (n = 31); and (3) controls (n = 30)...
March 2016: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/25424140/-diagnosis-and-therapy-of-arrhythmogenic-right-ventricular-cardiomyopathy
#8
REVIEW
Alessandro Zorzi, Ilaria Rigato, Federico Migliore, Martina Perazzolo Marra, Cristina Basso, Gaetano Thiene, Barbara Bauce, Domenico Corrado
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that predisposes to the occurrence of ventricular arrhythmias and sudden death, particularly in the young and athlete. The classic variant of the disease predominantly affects the right ventricle, but phenotypic variants with early and prevalent left ventricular involvement ("left-dominant" ARVC) have also been described, supporting the concept that arrhythmogenic cardiomyopathy is a disease of both ventricles. The diagnosis is multiparametric and is based on a series of criteria, including ECG abnormalities, arrhythmic manifestations, morpho-functional abnormalities and genetic defects...
November 2014: Giornale Italiano di Cardiologia
https://www.readbyqxmd.com/read/25344388/an-ecg-changed-the-life-of-a-young-boy-a-case-of-arrhythmogenic-right-ventricular-dysplasia
#9
Ibrahim Altun, Fatih Akin, Cem Sahin, Halil Beydilli
Arrhythmogenic right ventricular dysplasia (ARVD) is a progressive condition with the right ventricular myocardium being replaced by fibrofatty tissue. It is a hereditary disorder mostly caused by desmosome gene mutations. The prevalence of arrhythmogenic right ventricular cardiomyopathy is about 1/1000-5000. Clinical presentation is usually related to ventricular tachycardias, syncope, presyncope or ventricular fibrillation leading to cardiac arrest, mostly in young people and athletes. We report a case of a 17-year-old boy from Turkey, who was referred to our cardiology department for an ECG, required of him prior to joining a football team...
2014: BMJ Case Reports
https://www.readbyqxmd.com/read/25059004/arrhythmogenic-right-ventricular-cardiomyopathy-an-unusual-possible-cause-of-arrhythmia-in-a-78-year-old-man-with-a-40-year-history-of-palpitations
#10
Bernard Belhassen, Sami Viskin, Galit Aviram
No abstract text is available yet for this article.
June 2014: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/25059001/arrhythmogenic-right-ventricular-cardiomyopathy
#11
EDITORIAL
Guy Fontaine
No abstract text is available yet for this article.
June 2014: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/25037673/secondary-arrhythmogenic-right-ventricular-cardiomyopathy-decades-after-operative-repair-of-tetralogy-of-fallot
#12
Erin E Donaldson, Jong Mi Ko, Gonzalo Gonzalez-Stawinski, Shelley A Hall, William C Roberts
We describe a 47-year-old man who underwent heart transplantation (HT) for severe right-sided heart failure and periodic episodes of ventricular tachycardia (VT) 43 years after operative repair of tetralogy of Fallot (T of F). The right-ventricular outflow tract, the site where a patch had been placed 4 decades earlier, was aneurysmal. Such development decades after operative repair of T of F of both aneurysm and episodes of VT is probably more common than previously realized.
September 1, 2014: American Journal of Cardiology
https://www.readbyqxmd.com/read/25034068/family-members-of-patients-with-arvc-who-is-at-risk-at-what-age-when-and-how-often-should-we-evaluate-to-determine-risk
#13
EDITORIAL
Frank Marcus, Luisa Mestroni
No abstract text is available yet for this article.
July 22, 2014: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/25014132/dynamic-conduction-and-repolarisation-changes-in-early-arrhythmogenic-right-ventricular-cardiomyopathy-versus-benign-outflow-tract-ectopy-demonstrated-by-high-density-mapping-paced-surface-ecg-analysis
#14
Malcolm C Finlay, Akbar K Ahmed, Alan Sugrue, Justine Bhar-Amato, Giovanni Quarta, Antonis Pantazis, Edward J Ciaccio, Petros Syrris, Srijita Sen-Chowdhry, Ron Ben-Simon, Anthony W Chow, Martin D Lowe, Oliver R Segal, William J McKenna, Pier D Lambiase
AIMS: The concealed phase of arrhythmogenic right ventricular cardiomyopathy (ARVC) may initially manifest electrophysiologically. No studies have examined dynamic conduction/repolarization kinetics to distinguish benign right ventricular outflow tract ectopy (RVOT ectopy) from ARVC's early phase. We investigated dynamic endocardial electrophysiological changes that differentiate early ARVC disease expression from RVOT ectopy. METHODS: 22 ARVC (12 definite based upon family history and mutation carrier status, 10 probable) patients without right ventricular structural anomalies underwent high-density non-contact mapping of the right ventricle...
2014: PloS One
https://www.readbyqxmd.com/read/25011715/defining-arrhythmic-risk-and-defibrillator-therapy-in-arvc-shocking-rhythm
#15
EDITORIAL
Thomas J McGarry, Sanjiv M Narayan
No abstract text is available yet for this article.
July 15, 2014: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/25011714/ventricular-arrhythmias-in-the-north-american-multidisciplinary-study-of-arvc-predictors-characteristics-and-treatment
#16
Mark S Link, Douglas Laidlaw, Bronislava Polonsky, Wojciech Zareba, Scott McNitt, Kathleen Gear, Frank Marcus, N A Mark Estes
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with sudden cardiac death. However, the selection of patients for implanted cardioverter-defibrillators (ICDs), as well as programming of the ICD, is unclear. OBJECTIVES: The objective of this study was to identify predictors, characteristics, and treatment of ventricular arrhythmias in patients with ARVC. METHODS: The Multidisciplinary Study of Right Ventricular Cardiomyopathy established the North American ARVC Registry and enrolled patients with a diagnosis of ARVC...
July 15, 2014: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/24970294/diagnostic-value-of-isoproterenol-testing-in-arrhythmogenic-right-ventricular-cardiomyopathy
#17
Arnaud Denis, Frédéric Sacher, Nicolas Derval, Han S Lim, Hubert Cochet, Ashok J Shah, Matthew Daly, Xavier Pillois, Khaled Ramoul, Yuki Komatsu, Adlane Zemmoura, Sana Amraoui, Philippe Ritter, Sylvain Ploux, Pierre Bordachar, Mélèze Hocini, Pierre Jaïs, Michel Haïssaguerre
BACKGROUND: Although the Task Force Criteria for arrhythmogenic right ventricular cardiomyopathy (ARVC) have recently been updated, the diagnosis remains challenging in the early stages. The aim of this study was to evaluate the diagnostic value of β-adrenergic stimulation in ARVC. METHODS AND RESULTS: We evaluated 412 consecutive patients (213 men, age 41.5±16 years) referred for premature ventricular contractions evaluation or suspected ARVC. Isoproterenol testing was performed with continuous infusion of isoproterenol (45 μg/min) for 3 minutes...
August 2014: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/24967631/stop-gain-mutations-in-pkp2-are-associated-with-a-later-age-of-onset-of-arrhythmogenic-right-ventricular-cardiomyopathy
#18
Mireia Alcalde, Oscar Campuzano, Paola Berne, Pablo García-Pavía, Ada Doltra, Elena Arbelo, Georgia Sarquella-Brugada, Anna Iglesias, Luis Alonso-Pulpon, Josep Brugada, Ramon Brugada
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a cardiac disease characterized by the presence of fibrofatty replacement of the right ventricular myocardium, which may cause ventricular arrhythmias and sudden cardiac death. Pathogenic mutations in several genes encoding mainly desmosomal proteins have been reported. Our aim is to perform genotype-phenotype correlations to establish the diagnostic value of genetics and to assess the role of mutation type in age-related penetrance in ARVC...
2014: PloS One
https://www.readbyqxmd.com/read/24898597/arrhythmogenic-right-ventricular-cardiomyopathy-in-pregnancy
#19
REVIEW
Aysen Agir, Serdar Bozyel, Umut Celikyurt, Onur Argan, Irem Yilmaz, Kurtulus Karauzum, Ahmet Vural
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is predominantly a genetically determined heart muscle disorder that is characterized by fibro-fatty replacement of the right ventricular (RV) myocardium.(1)) The clinical spectrum of ARVC may represent from asymptomatic premature ventricular complexes to ventricular tachycardia (VT) and sudden cardiac death (SCD). It is a well-known leading cause of SCD in young adults.(2,3))There is no general consensus on the management of ARVC in pregnancy, and the preferred mode of delivery is uncertain...
2014: International Heart Journal
https://www.readbyqxmd.com/read/24808785/right-ventricular-sarcoidosis-is-it-time-for-updated-diagnostic-criteria
#20
Kairav Vakil, Elina Minami, Daniel P Fishbein
A 55-year-old woman with a history of complete heart block, atrial flutter, and progressive right ventricular failure was referred to our tertiary care center to be evaluated for cardiac transplantation. The patient's clinical course included worsening right ventricular dysfunction for 3 years before the current evaluation. Our clinical findings raised concerns about arrhythmogenic right ventricular cardiomyopathy. Noninvasive imaging, including a positron emission tomographic scan, did not reveal obvious myocardial pathologic conditions...
April 2014: Texas Heart Institute Journal
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