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arrhythmogenic right ventricular cardiomyopathy

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https://www.readbyqxmd.com/read/28527814/desmoplakin-missense-and-non-missense-mutations-in-arrhythmogenic-right-ventricular-cardiomyopathy-genotype-phenotype-correlation
#1
Silvia Castelletti, Annina S Vischer, Petros Syrris, Lia Crotti, Carla Spazzolini, Alice Ghidoni, Gianfranco Parati, Sharon Jenkins, Maria-Christina Kotta, William J McKenna, Peter J Schwartz, Antonis Pantazis
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is traditionally considered as primarily affecting the right ventricle. Mutations in genes encoding desmosomal proteins account for 40-60% of cases. Genotype-phenotype correlations are scant and mostly non gene-specific. Accordingly, we assessed the genotype-phenotype correlation for desmoplakin (DSP) missense and non-missense mutations causing ARVC. METHODS AND RESULTS: We analyzed 27 ARVC patients carrying a missense or a non-missense DSP mutation, with complete clinical assessment...
May 10, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28523642/autosomal-recessive-nonsyndromic-arrhythmogenic-right-ventricular-cardiomyopathy-without-cutaneous-involvements-a-novel-mutation
#2
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
#3
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/28506445/comparison-of-features-of-fatal-versus-nonfatal-cardiac-arrest-in-patients-with-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy
#4
Richa Gupta, Crystal Tichnell, Brittney Murray, Stefania Rizzo, Anneline Te Riele, Harikrishna Tandri, Daniel P Judge, Gaetano Thiene, Cristina Basso, Hugh Calkins, Cynthia A James
Once arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is diagnosed, the incidence of sudden cardiac death (SCD) is rare and prognosis is favorable, highlighting the value of early disease recognition. To inform strategies to diagnose ARVD/C before SCD, we sought to characterize clinical, genetic, and family history features of ARVD/C cases first recognized after SCD or resuscitated SCD (sudden cardiac arrest [SCA]). We identified 66 ARVD/C cases submitted to the Johns Hopkins ARVD/C Registry in whom disease was first recognized after SCD (n = 45) or SCA (n = 21) and compared their clinical, genetic, and demographic features with 352 patients (227 probands) diagnosed with ARVD/C by 2010 Task Force Criteria before any arrest...
April 13, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28496511/evaluation-of-coronary-arteries-in-non-ischemic-cardiomyopathies-a-case-report
#5
Farveh Vakilian, Mahmood Mohamadzadeh Shabestari, Ahmad Amin, Soheila Chamanian, Toktam Moghiman
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a congenital cardiac disease with myocardial involvement, most probably right ventricular (RV) dysfunction, accounting for 20% of sudden cardiac deaths. Characterized by the fibro-fatty infiltration of the RV free wall, ARVD/C presents in adolescents with ventricular arrhythmias and heart failure symptoms and as biventricular failure in adults. The coronary risk in these patients is not clear. We present an incidental finding: the left anterior descending artery cut-off in a middle-aged man with ARVD/C...
October 3, 2016: Journal of Tehran Heart Center
https://www.readbyqxmd.com/read/28492156/electrical-storm-or-naxos-syndrome-in-an-adult-causing-recurrent-syncope
#6
Muhammad Furrakh Maqbool, Muhammad Sajid, Ahmed Noeman
Among the rare and well-known causes of sudden cardiac death by malignant arrthymias is a condition called arrhythmogenic right ventricular cardiomyopathy. It commonly presents with right ventricular dilatation, dysfunction and ventricular tachycardia of left bundle branch morphology due to fibro-fatty infiltration of right ventricle in second to fifth decade of life, making it an unrecognized and important cause of sudden cardiac death. Two rare variants of arrhythmogenic right ventricular cardiomyopathy are Carvajal syndrome and Naxos syndrome...
April 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28491739/incremental-value-of-electroanatomical-mapping-for-the-diagnosis-of-arrhythmogenic-right-ventricular-cardiomyopathy-in-a-patient-with-sustained-ventricular-tachycardia
#7
Simon A Castro, Rajeev K Pathak, Daniele Muser, Pasquale Santangeli, Anjali Owens, Francis Marchlinski, Fermin C Garcia
No abstract text is available yet for this article.
November 2016: HeartRhythm Case Reports
https://www.readbyqxmd.com/read/28491693/congenital-heart-disease-confounding-the-diagnosis-of-arrhythmogenic-right-ventricular-cardiomyopathy
#8
Omid Kiamanesh, Maryam Farhan, Shubhayan Sanatani, Lars Grosse-Wortmann, Walter Duncan, Robert M Hamilton
No abstract text is available yet for this article.
July 2016: HeartRhythm Case Reports
https://www.readbyqxmd.com/read/28488109/-epicardial-ablation-of-ventricular-tachycardias
#9
REVIEW
E Ene, P Halbfaß, K Nentwich, K Sonne, M Roos, S Fodor, L Lehmkuhl, F Gietzen, S Barth, K Hamm, T Deneke
Ventricular tachycardias (VT) in patients with structural heart diseases have predominantly a scar-associated reentry mechanism so that substrate-based ablation approaches also have to be used in nearly all procedures. In many VT cases-especially in nonischemic cardiomyopathy (NICM) and arrhythmogenic right ventricular cardiomyopathy-a critical epicardial substrate can be identified as an essential component of the reentry circuit so that for the ablation-based modification of the substrate in these cases an epicardial approach is necessary...
May 9, 2017: Herzschrittmachertherapie & Elektrophysiologie
https://www.readbyqxmd.com/read/28471438/electronic-health-record-phenotype-in-subjects-with-genetic-variants-associated-with-arrhythmogenic-right-ventricular-cardiomyopathy-a-study-of-30-716-subjects-with-exome-sequencing
#10
Christopher M Haggerty, Cynthia A James, Hugh Calkins, Crystal Tichnell, Joseph B Leader, Dustin N Hartzel, Christopher D Nevius, Sarah A Pendergrass, Thomas N Person, Marci Schwartz, Marylyn D Ritchie, David J Carey, David H Ledbetter, Marc S Williams, Frederick E Dewey, Alexander Lopez, John Penn, John D Overton, Jeffrey G Reid, Matthew Lebo, Heather Mason-Suares, Christina Austin-Tse, Heidi L Rehm, Brian P Delisle, Daniel J Makowski, Vishal C Mehra, Michael F Murray, Brandon K Fornwalt
PurposeArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease. Clinical follow-up of incidental findings in ARVC-associated genes is recommended. We aimed to determine the prevalence of disease thus ascertained.MethodsIndividuals (n = 30,716) underwent exome sequencing. Variants in PKP2, DSG2, DSC2, DSP, JUP, TMEM43, or TGFβ3 that were database-listed as pathogenic or likely pathogenic were identified and evidence-reviewed. For subjects with putative loss-of-function (pLOF) variants or variants of uncertain significance (VUS), electronic health records (EHR) were reviewed for ARVC diagnosis, diagnostic criteria, and International Classification of Diseases (ICD-9) codes...
May 4, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28465114/heart-failure-in-patients-with-arrhythmogenic-right-ventricular-cardiomyopathy-what-are-the-risk-factors
#11
Yoshitaka Kimura, Takashi Noda, Taka-Aki Matsuyama, Yosuke Otsuka, Tsukasa Kamakura, Mitsuru Wada, Kohei Ishibashi, Yuko Inoue, Koji Miyamoto, Hideo Okamura, Satoshi Nagase, Takeshi Aiba, Shiro Kamakura, Teruo Noguchi, Toshihisa Anzai, Kazuhiro Satomi, Yuko Wada, Seiko Ohno, Minoru Horie, Wataru Shimizu, Satoshi Yasuda, Hiroaki Shimokawa, Kengo Kusano
BACKGROUND: We previously demonstrated that heart failure (HF) was one of the major causes of death in arrhythmogenic right ventricular cardiomyopathy (ARVC). The purpose of this study was to elucidate the clinical impact and risk factors of HF in patients with ARVC. METHODS AND RESULTS: We evaluated cardiac adverse outcomes including HF in 113 consecutive patients with ARVC (85 men, mean age: 44±15years). During a median follow-up of 10.0years (interquartile range: 5...
April 21, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28454914/genetic-and-epigenetic-regulation-of-arrhythmogenic-cardiomyopathy
#12
REVIEW
Stefan Mazurek, Gene H Kim
Arrhythmogenic cardiomyopathy (AC) is most commonly characterized as a disease of the intercalated disc that promotes abnormal cardiac conduction. Previously, arrhythmogenic cardiomyopathy was frequently referred to as arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D); however, genotype-phenotype studies have defined a broader phenotypic spectrum; with the identification of left-dominant and biventricular subtypes. Molecular insight into AC has primarily focused on mutations in desmosomal proteins and the downstream signaling pathways; however, desmosomal gene mutations can only be identified in approximately fifty percent of patients with AC...
April 25, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28453732/corrigendum-to-multilevel-analyses-of-scn5a-mutations-in-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy-suggest-non-canonical-mechanisms-for-disease-pathogenesis
#13
(no author information available yet)
No abstract text is available yet for this article.
May 1, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28431057/quantitative-analysis-of-pkp2-and-neighbouring-genes-in-a-patient-with-arrhythmogenic-right-ventricular-cardiomyopathy-caused-by-heterozygous-pkp2-deletion
#14
Keiko Sonoda, Seiko Ohno, Sou Otuki, Koichi Kato, Nobue Yagihara, Hiroshi Watanabe, Takeru Makiyama, Tohru Minamino, Minoru Horie
Aims: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease mainly caused by desmosome gene mutations. The genetic culprit, however, remains elusive in ∼50% of ARVC patients. One of the reasons for missing genetic abnormalities is the difficulty in detecting large deletions/duplications, which are called as copy number variation (CNV) by the Sanger sequencing method. This study aimed to identify CNVs in PKP2 and a part of other desmosome genes in ARVC patients. Methods and Results: The study cohort consisted of 71 ARVC probands who were diagnosed as definite or borderline cases based on 2010 Task Force Criteria...
April 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28431055/electrocardiographic-differentiation-of-idiopathic-right-ventricular-outflow-tract-ectopy-from-early-arrhythmogenic-right-ventricular-cardiomyopathy
#15
Jan Novak, Alessandro Zorzi, Silvia Castelletti, Antonis Pantasis, Ilaria Rigato, Domenico Corrado, William Mckenna, Pier D Lambiase
Aims: The differentiation between idiopathic right ventricular outflow tract (RVOT) arrhythmias and early arrhythmogenic right ventricular cardiomyopathy (ARVC) can be challenging. We aimed to assess whether QRS morphological features and coupling interval of ventricular ectopic beats (VEBs) can improve differentiation between the two conditions. Methods and Results: Twenty desmosomal-gene mutation carriers (13 females, mean age 43 years) with no or mild ARVC phenotypic expression and 33 age- and sex-matched subjects with idiopathic RVOT arrhythmias were studied...
April 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28419233/epicardial-ablation-may-not-be-necessary-in-all-patients-with-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy-and-frequent-ventricular-tachycardia-author-s-reply
#16
Antonio Berruezo, Juan Acosta, Juan Fernández-Armenta
No abstract text is available yet for this article.
April 16, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28402769/arrhythmogenic-right-ventricular-cardiomyopathy
#17
LETTER
Domenico Corrado, Mark S Link, Hugh Calkins
No abstract text is available yet for this article.
April 13, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28402404/long-term-outcome-of-surgical-cryoablation-for-refractory-ventricular-tachycardia-in-patients-with-non-ischemic-cardiomyopathy
#18
Jackson J Liang, Brian P Betensky, Daniele Muser, Erica S Zado, Elad Anter, Nimesh D Desai, David J Callans, Rajat Deo, David S Frankel, Mathew D Hutchinson, David Lin, Michael P Riley, Robert D Schaller, Gregory E Supple, Pasquale Santangeli, Michael A Acker, Joseph E Bavaria, Wilson Y Szeto, Prashanth Vallabhajosyula, Francis E Marchlinski, Sanjay Dixit
Aims: Limited data exist on the long-term outcome of patients (pts) with non-ischemic cardiomyopathy (NICM) and ventricular tachycardia (VT) refractory to conventional therapies undergoing surgical ablation (SA). We aimed to investigate the long-term survival and VT recurrence in NICM pts with VT refractory to radiofrequency catheter ablation (RFCA) who underwent SA. Methods and results: Consecutive pts with NICM and VT refractory to RFCA who underwent SA were included...
April 10, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28382086/catheter-ablation-of-ventricular-tachycardia-fibrillation-in-a-patient-with-right-ventricular-amyloidosis-with-initial-manifestations-mimicking-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy
#19
Fa-Po Chung, Yenn-Jiang Lin, Ling Kuo, Shih-Ann Chen
Differentiating arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) from other cardiomyopathies is clinically important but challenging. Although the modified Task Force Criteria can facilitate diagnosis of ARVD/C according to clinical manifestations, histopathological examination plays a pivotal role in excluding other diseases that can mimic ARVD/C. Here, we report a patient with amyloidosis that initially presented similarly to ARVD/C. The diagnosis was confirmed by endomyocardial biopsy, and catheter ablation eliminated the ventricular tachyarrhythmias through an epicardial approach...
March 2017: Korean Circulation Journal
https://www.readbyqxmd.com/read/28373789/arrhythmogenic-right-ventricular-cardiomyopathy-with-biventricular-involvement-and-heart-failure-in-a-9-year-old-girl
#20
Fateh Ali Tipoo Sultan, Mehnaz Atiq Ahmed, Jamie Miller, Joseph B Selvanayagam
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is seldom recognized clinically in infancy or under the age of 10. We report a case of a 9-year-old girl with ARVC, who presented with signs and symptoms of heart failure and palpitations. Holter monitoring showed frequent premature ventricular beats and echocardiogram revealed dilated and dysfunctional right ventricle with normal tricuspid valve and no evidence of intracardiac shunt. Cardiac magnetic resonance showed classical features of ARVC with both ventricular involvements...
April 2017: Journal of the Saudi Heart Association
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