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arrhythmogenic right ventricular cardiomyopathy

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https://www.readbyqxmd.com/read/29774304/arrhythmogenic-right-ventricular-cardiomyopathy-in-boxer-dogs-the-diagnosis-as-a-link-to-the-human-disease
#1
Annina S Vischer, David J Connolly, Caroline J Coats, Virginia Luis Fuentes, William J McKenna, Silvia Castelletti, Antonios A Pantazis
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a myocardial disease with an increased risk for ventricular arrhythmias. The condition, which occurs in Boxer dogs, shares phenotypic features with the human disease arrhythmogenic cardiomyopathy (ACM) suggesting its potential as a natural animal model. However, there are currently no universally accepted clinical criteria to diagnose ARVC in Boxer dogs. We aimed to identify diagnostic criteria for ARVC in Boxer dogs defining a more uniform and consistent phenotype...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29764897/diagnostic-yield-of-genetic-testing-in-young-athletes-with-t-wave-inversion
#2
Nabeel Sheikh, Michael Papadakis, Mathew Wilson, Aneil Malhotra, Carmen Adamuz, Tessa Homfray, Lorenzo Monserrat, Elijah R Behr, Sanjay Sharma
Background -T-wave inversion (TWI) is common in patients with cardiomyopathy. However, up to 25% of athletes of African/Afro-Caribbean descent (black athletes) and 5% of white athletes also have TWI of unclear clinical significance despite comprehensive clinical evaluation and long-term follow-up. The aim of this study was to determine the diagnostic yield from genetic testing, beyond clinical evaluation, when investigating athletes with TWI. Methods -We investigated 50 consecutive asymptomatic black and 50 white athletes aged 14-35-years-old with TWI and a normal echocardiogram who were referred to a UK tertiary center for cardiomyopathy and sports cardiology...
May 15, 2018: Circulation
https://www.readbyqxmd.com/read/29759546/subcutaneous-implantable-cardioverter-defibrillator-and-arrhythmogenic-right-ventricular-cardiomyopathy-the-importance-of-repeat-ecg-screening-during-exercise-test
#3
Federico Migliore, Emanuele Bertaglia, Alessandro Zorzi, Domenico Corrado
No abstract text is available yet for this article.
July 2017: JACC. Clinical Electrophysiology
https://www.readbyqxmd.com/read/29759534/still-an-important-tool-the-role-of-the-12-lead-ecg-to-localize-abnormal-electroanatomic-substrate-in-arrhythmogenic-right-ventricular-cardiomyopathy
#4
EDITORIAL
Melvin M Scheinman, Kurt S Hoffmayer
No abstract text is available yet for this article.
July 2017: JACC. Clinical Electrophysiology
https://www.readbyqxmd.com/read/29759533/12-lead-electrocardiogram-to-localize-region-of-abnormal-electroanatomic-substrate-in-arrhythmogenic-right-ventricular-cardiomyopathy
#5
Cory M Tschabrunn, Haris M Haqqani, Pasquale Santangeli, Erica S Zado, Francis E Marchlinski
OBJECTIVES: The purpose of this study was to evaluate the relationship between electrocardiogram (ECG) QRS fragmentation (fQRS) and right ventricular (RV) endocardial (ENDO) and epicardial (EPI) electroanatomic substrate abnormalities in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC). BACKGROUND: fQRS is frequently observed in patients with ARVC and reflects delayed conduction due to RV fibrosis. METHODS: A total of 30 consecutive patients met the task force criteria for ARVC (19 men, mean age 41...
July 2017: JACC. Clinical Electrophysiology
https://www.readbyqxmd.com/read/29755946/iatrogenic-atrial-septal-defect-with-right-to-left-shunt-following-atrial-fibrillation-ablation-in-a-patient-with-arrhythmogenic-right-ventricular-cardiomyopathy
#6
Adam Lee, Vaikom S Mahadevan, Edward P Gerstenfeld
No abstract text is available yet for this article.
April 2018: HeartRhythm Case Reports
https://www.readbyqxmd.com/read/29754204/diagnosing-arvc-in-pediatric-patients-applying-the-revised-task-force-criteria-importance-of-imaging-12-lead-ecg-and-genetics
#7
Michael Steinmetz, Ulrich Krause, Peter Lauerer, Frank Konietschke, Randolph Aguayo, Christian Oliver Ritter, Andreas Schuster, Joachim Lotz, Thomas Paul, Wieland Staab
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a potentially lethal disease that is well described in adults. In pediatric patients, however, identification of patients at risk of adverse events of ARVC remains a challenge. We aimed to determine which criteria of the revised Task Force Criteria (rTFC), alone or combined, have an impact on diagnosis of ARVC when compared to disease-specific genetic mutations in pediatric patients ≤ 18 years. Between September 2010 and December 2013, 48 consecutive young patients ≤ 18 years of age (mean 14, range of 12...
May 12, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29750433/absence-of-a-primary-role-for-ttn-missense-variants-in-arrhythmogenic-cardiomyopathy-from-a-clinical-and-pathological-perspective
#8
Kai Chen, Jiangping Song, Zhen Wang, Man Rao, Liang Chen, Shengshou Hu
BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is an inheritable heart disease characterized by fibro-fatty replacement of the myocardium. TTN missense variants were previously reported as a pathogenic factor for ACM. HYPOTHESIS: TTN missense variants are commonly identified in ACM, but have limited effect on the phenotype of ACM. METHODS: We sequenced 15 ACM-related genes in 35 patients who had a heart transplantation and quantified myocardium, and fibrous and adipose tissue in blocks of the explanted heart...
May 11, 2018: Clinical Cardiology
https://www.readbyqxmd.com/read/29723683/beyond-the-length-and-look-of-repolarization-defining-the-non-qtc-electrocardiographic-profiles-of-patients-with-congenital-long-qt-syndrome
#9
Conor M Lane, J Martijn Bos, Ram K Rohatgi, Michael J Ackerman
BACKGROUND: Little is known about the spectrum and prevalence of ECG features beyond the length and morphology of repolarization in patients with congenital long QT syndrome (LQTS). OBJECTIVE: To characterize the full ECG phenotype of LQTS patients and evaluate differences by age and LQTS genotype. METHODS: Retrospective review of 943 patients with LQTS (57% female, median age 25 years; IQR 9 - 34 years) was performed. Comprehensive analysis of their initial evaluation ECG was performed using definitions outlined in Heart Rhythm Society guidelines...
April 30, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29721109/arrhythmogenic-right-ventricular-cardiomyopathy-dysplasia-arvc-d-in-clinical-practice
#10
REVIEW
Ka Hou Christien Li, George Bazoukis, Tong Liu, Guangping Li, William K K Wu, Sunny Hei Wong, Wing Tak Wong, Yat Sun Chan, Martin C S Wong, Katharina Wassilew, Vassilios S Vassiliou, Gary Tse
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an inherited myocardial disease characterized by fibro-fatty replacement of the right ventricular myocardium, and associated with paroxysmal ventricular arrhythmias and sudden cardiac death (SCD). It is currently the second most common cause of SCD after hypertrophic cardiomyopathy in young people <35 years of age, causing up to 20% of deaths in this patient population. This condition has a male preponderance and is more commonly found in individuals of Italian and Greek descent...
February 2018: Journal of Arrhythmia
https://www.readbyqxmd.com/read/29709087/identification-of-sarcomeric-variants-in-probands-with-a-clinical-diagnosis-of-arrhythmogenic-right-ventricular-cardiomyopathy-arvc
#11
Brittney Murray, Edgar T Hoorntje, Anneline S J M Te Riele, Crystal Tichnell, Jeroen F van der Heijden, Harikrishna Tandri, Maarten P van den Berg, Jan D H Jongbloed, Arthur A M Wilde, Richard N W Hauer, Hugh Calkins, Daniel P Judge, Cynthia A James, J Peter van Tintelen, Dennis Dooijes
AIMS: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by ventricular arrhythmias and sudden death. Currently 60% of patients meeting Task Force Criteria (TFC) have an identifiable mutation in one of the desmosomal genes. As much overlap is described between other cardiomyopathies and ARVC, we examined the prevalence of rare, possibly pathogenic sarcomere variants in the ARVC population. METHODS: One hundred and thirty-seven (137) individuals meeting 2010 TFC for a diagnosis of ARVC, negative for pathogenic desmosomal variants, TMEM43, SCN5A, and PLN were screened for variants in the sarcomere genes (ACTC1, MYBPC3, MYH7, MYL2, MYL3, TNNC1, TNNI3, TNNT2 and TPM1) through either clinical or research genetic testing...
April 30, 2018: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/29705385/diagnosis-of-arrhythmogenic-right-ventricular-cardiomyopathy-progress-and-pitfalls
#12
REVIEW
Ad W G J Oomen, Christopher Semsarian, Rajesh Puranik, Raymond W Sy
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy that predominantly affects the right ventricle. With a prevalence in the range of 1:5000 to 1:2000 persons, ARVC is one of the leading causes of sudden cardiac death in young people and in athletes. Although early detection and treatment is important, the diagnosis of ARVC remains challenging. There is no single pathognomonic diagnostic finding in ARVC; rather, current international task force criteria specify diagnostic major and minor criteria in six categories: right ventricular imaging (including echocardiography and cardiac magnetic resonance imaging (MRI)), histology, repolarisation abnormalities, depolarisation and conduction abnormalities, arrhythmias and family history (including genetic testing)...
April 4, 2018: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/29688316/diagnostic-and-therapeutic-strategies-for-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy-patient
#13
Weijia Wang, Cynthia A James, Hugh Calkins
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a rare inherited heart muscle disease characterized by ventricular tachyarrhythmia, predominant right ventricular dysfunction, and sudden cardiac death. Its pathophysiology involves close interaction between genetic mutations and exposure to physical activity. Mutations in genes encoding desmosomal protein are the most common genetic basis. Genetic testing plays important roles in diagnosis and screening of family members. Syncope, palpitation, and lightheadedness are the most common symptoms...
April 23, 2018: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29687676/can-sudden-cardiac-death-in-the-young-be-predicted-and-prevented-lessons-from-autopsy-for-the-emergency-physician
#14
Jennifer L White, Anna Marie Chang, Sergi Cesar, Georgia Sarquella-Brugada
Sudden unexpected death in the young, though rare, is devastating for both the family and the community. Although only 1.3 to 8.5 cases of sudden cardiac death (SCD) occur per 100 000 young people, autopsy is often inconclusive. Many causes of SCD are related to autosomal dominant inherited risk, however; therefore, answers are important for survivors. Causes of autopsy-positive SCD in young patients include hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia. Autopsy-negative SCD has been related to inherited arrhythmogenic causes such as long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, Wolff- Parkinson-White syndrome, and idiopathic ventricular fibrillation...
June 2018: Emergencias: revista de la Sociedad Española de Medicina de Emergencias
https://www.readbyqxmd.com/read/29684120/atrial-fibrillation-in-patients-with-inherited-cardiomyopathies
#15
Cynthia Yeung, Andres Enriquez, Laiden Suarez-Fuster, Adrian Baranchuk
Atrial fibrillation (AF) often complicates the course of inherited cardiomyopathies and, in some cases, may be the presenting feature. Each inherited cardiomyopathy has its own peculiar pathogenetic characteristics that can contribute to the development and maintenance of AF. Atrial fibrillation may occur as a consequence of disease-specific defects, non-specific cardiac chamber changes secondary to the primary illness, or a combination thereof. The presence of AF can denote a turning point in the progression of the disease, promoting clinical deterioration and increasing morbidity and mortality...
April 19, 2018: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29659777/number-of-pregnancies-and-subsequent-phenotype-in-a-cross-sectional-cohort-of-women-with-arrhythmogenic-cardiomyopathy
#16
Anna I Castrini, Øyvind H Lie, Ida S Leren, Mette E Estensen, Mathis K Stokke, Lars G Klæboe, Thor Edvardsen, Kristina H Haugaa
Aims: We aimed to assess the relation between number of pregnancies and cardiac structure, function, and arrhythmic events in women with arrhythmogenic cardiomyopathy (AC). Methods and results: We included female AC patients in a cross-sectional study. Number of pregnancies and pregnancy related symptoms were recorded. Ventricular arrhythmias were defined as aborted cardiac arrest, sustained ventricular tachycardia, or appropriate implantable cardioverter-defibrillator therapy...
April 6, 2018: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/29652902/relations-between-right-ventricular-morphology-and-clinical-electrical-and-genetic-parameters-in-brugada-syndrome
#17
Belinda Gray, Ganesh Kumar Gnanappa, Richard D Bagnall, Giuseppe Femia, Laura Yeates, Jodie Ingles, Charlotte Burns, Rajesh Puranik, Stuart M Grieve, Christopher Semsarian, Raymond W Sy
BACKGROUND: Increasing evidence suggests the presence of structural changes affecting the right ventricular outflow tract (RVOT) in patients with Brugada Syndrome (BrS). The aim of this study was to characterise the RV morphology in BrS and explore associations between morphologic, clinical, electrical, and genetic parameters using non-invasive multimodality testing. METHODS: Consecutive BrS patients (recruited 2013-2015) underwent clinical assessment, dedicated RV imaging using cardiac magnetic resonance (CMR) imaging (unless contra-indicated), electrical assessment (electrocardiogram, Holter monitoring, signal-averaged ECG[SAECG]) and genotyping...
2018: PloS One
https://www.readbyqxmd.com/read/29628478/arrhythmogenic-right-ventricular-cardiomyopathy-with-multiple-thrombi-and-ventricular-tachycardia-of-atypical-left-branch-bundle-block-morphology
#18
Shenzhen Gong, Xin Wei, Guyue Liu, Feng Wu, Xiaoping Chen
A 61-year-old male patient was admitted to our hospital with recurrent palpitations and syncope. Electrocardiography, echocardiography, and contrast-enhanced computed tomography were performed. The patient was diagnosed with arrhythmogenic right ventricular cardiomyopathy (ARVC) complicated by multiple thrombi, and ventricular tachycardia (VT) without typical left bundle branch block (LBBB) morphology. This case suggests that VT is not always the sole contributor to syncope and death in patients with ARVC, and pulmonary embolism should be considered...
April 6, 2018: International Heart Journal
https://www.readbyqxmd.com/read/29622970/sudden-cardiac-death-with-triple-pathologies-a-case-report
#19
R Razuin, F Nurquin, M N Shahidan, M N Julina
Sudden cardiac death in young adults may be associated with rare cardiomyopathies such as left ventricular noncompaction (LVNC) and arrhythmogenic right ventricular (ARVC) cardiomyopathies. LVNC is characterised by hypertrabeculations and deep recesses of the left ventricle. ARVC presents with thin myocardium as a result of extensive fibro-fatty infiltrations. In both conditions, death may be due to arrhythmia, thromboembolic events or heart failure. We report a case of a 21-year old athletic young man who collapsed at the futsal court right after the game...
June 2017: Egypt Heart J
https://www.readbyqxmd.com/read/29619572/-recognizing-rare-cardiac-diseases-by-electrocardiogram
#20
REVIEW
W Grimm, A Grimm, K Grimm, E Efimova
A number of rare cardiac diseases can be recognized by electrocardiogram (ECG). This article illustrates the clinical importance of ECG as a key diagnostic tool to detect Wolff-Parkinson-White syndrome and channelopathies, which are frequently diagnosed late after one or more affected family members have become victims of sudden cardiac death. These channelopathies include long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. In addition, typical ECG findings are frequently present in patients with idiopathic ventricular tachycardia, arrhythmogenic right ventricular dysplasia, digitalis intoxication, hyperkalemia, acute cor pulmonale due to pulmonary embolism, as well as severe left ventricular hypertrophy as in hypertrophic cardiomyopathy...
April 4, 2018: Der Internist
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