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21 results

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Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory.
Stava TT, Leren TP, Bogsrud MP. Stava TT, et al. Eur J Prev Cardiol. 2022 Oct 18;29(13):1789-1799. doi: 10.1093/eurjpc/zwac102. Eur J Prev Cardiol. 2022. PMID: 35653365
A likely pathogenic or pathogenic variant (216 different variants including 67 novel) was detected in 574 probands, corresponding to a hit-rate of genetic testing of 13.1% in total, 11.9% in hypertrophic, 14.1% in dilated, and 14.9% in arrhythmogenic right …
A likely pathogenic or pathogenic variant (216 different variants including 67 novel) was detected in 574 probands, corresponding to a hit-r …
Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report.
Elliott PM, Anastasakis A, Asimaki A, Basso C, Bauce B, Brooke MA, Calkins H, Corrado D, Duru F, Green KJ, Judge DP, Kelsell D, Lambiase PD, McKenna WJ, Pilichou K, Protonotarios A, Saffitz JE, Syrris P, Tandri H, Te Riele A, Thiene G, Tsatsopoulou A, van Tintelen JP. Elliott PM, et al. Eur J Heart Fail. 2019 Aug;21(8):955-964. doi: 10.1002/ejhf.1534. Epub 2019 Jun 18. Eur J Heart Fail. 2019. PMID: 31210398 Free PMC article. Review.
It is 35 years since the first description of arrhythmogenic right ventricular cardiomyopathy (ARVC) and more than 20 years since the first reports establishing desmosomal gene mutations as a major cause of the disease. ...In this paper, we present the conclu …
It is 35 years since the first description of arrhythmogenic right ventricular cardiomyopathy (ARVC) and more than 20 y …
Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy-risk of arrhythmias and heart failure.
Christensen AH, Platonov PG, Jensen HK, Chivulescu M, Svensson A, Dahlberg P, Madsen T, Frederiksen TC, Heliö T, Lie ØH, Haugaa KH, Hastrup Svendsen J, Bundgaard H. Christensen AH, et al. J Med Genet. 2022 Sep;59(9):858-864. doi: 10.1136/jmedgenet-2021-107911. Epub 2021 Aug 16. J Med Genet. 2022. PMID: 34400560
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is predominantly caused by desmosomal genetic variants, and clinical hallmarks include arrhythmias and systolic dysfunction. ...A pathogenic desmosomal variant was identified in 62% of the 230 …
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is predominantly caused by desmosomal genetic varian …
Arrhythmogenic cardiomyopathy and differential diagnosis with physiological right ventricular remodelling in athletes using cardiovascular magnetic resonance.
Moccia E, Papatheodorou E, Miles CJ, Merghani A, Malhotra A, Dhutia H, Bastiaenen R, Sheikh N, Zaidi A, Sanna GD, Homfray T, Bunce N, Anderson LJ, Tome M, Behr E, Moon J, Sharma S, Finocchiaro G, Papadakis M. Moccia E, et al. Int J Cardiovasc Imaging. 2022 Dec;38(12):2723-2732. doi: 10.1007/s10554-022-02684-y. Epub 2022 Jul 21. Int J Cardiovasc Imaging. 2022. PMID: 36445664
To describe the overlap between structural abnormalities typical of arrhythmogenic right ventricular cardiomyopathy (ARVC) and physiological right ventricular adaptation to exercise and differentiate between pathologic and physiologic findings u …
To describe the overlap between structural abnormalities typical of arrhythmogenic right ventricular cardiomyopathy (AR …
Genotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy caused by desmosomal gene mutations: A systematic review and meta-analysis.
Xu Z, Zhu W, Wang C, Huang L, Zhou Q, Hu J, Cheng X, Hong K. Xu Z, et al. Sci Rep. 2017 Jan 25;7:41387. doi: 10.1038/srep41387. Sci Rep. 2017. PMID: 28120905 Free PMC article. Review.
The relationship between clinical phenotypes and desmosomal gene mutations in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) is poorly characterized. ...The presence of desmosomal gene mutations was associated with a younger onset age of …
The relationship between clinical phenotypes and desmosomal gene mutations in patients with arrhythmogenic right ventricula …
Arrhythmogenic Right Ventricular Cardiomyopathy: Characterization of Left Ventricular Phenotype and Differential Diagnosis With Dilated Cardiomyopathy.
Cipriani A, Bauce B, De Lazzari M, Rigato I, Bariani R, Meneghin S, Pilichou K, Motta R, Aliberti C, Thiene G, McKenna WJ, Zorzi A, Iliceto S, Basso C, Perazzolo Marra M, Corrado D. Cipriani A, et al. J Am Heart Assoc. 2020 Mar 3;9(5):e014628. doi: 10.1161/JAHA.119.014628. Epub 2020 Mar 2. J Am Heart Assoc. 2020. PMID: 32114891 Free PMC article.
Background This study assessed the prevalence of left ventricular (LV) involvement and characterized the clinical, electrocardiographic, and imaging features of LV phenotype in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC). ...Pa …
Background This study assessed the prevalence of left ventricular (LV) involvement and characterized the clinical, electrocardiograph …
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.
Castelletti S, Vischer AS, Syrris P, Crotti L, Spazzolini C, Ghidoni A, Parati G, Jenkins S, Kotta MC, McKenna WJ, Schwartz PJ, Pantazis A. Castelletti S, et al. Int J Cardiol. 2017 Dec 15;249:268-273. doi: 10.1016/j.ijcard.2017.05.018. Epub 2017 May 10. Int J Cardiol. 2017. PMID: 28527814
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is traditionally considered as primarily affecting the right ventricle. ...Also the prevalence of symptoms, either major (60% vs 59%, p=1) or all (80% vs 88%, p=0.61), did not differ. B …
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is traditionally considered as primarily affecting t …
Arrhythmogenic cardiomyopathy in children according to "Padua criteria": Single pediatric center experience.
Cicenia M, Cantarutti N, Adorisio R, Silvetti MS, Secinaro A, Ciancarella P, Di Mambro C, Magliozzi M, Novelli A, Amodeo A, Baban A, Drago F. Cicenia M, et al. Int J Cardiol. 2022 Mar 1;350:83-89. doi: 10.1016/j.ijcard.2022.01.008. Epub 2022 Jan 6. Int J Cardiol. 2022. PMID: 34998950
History, electrocardiograms, ECG-holter monitorings, exercise testings, imaging investigations, electrophysiological studies, genetic testings and follow-up data were collected. RESULTS: We enrolled 21 patients (mean age 13.9 2 years). Most of them presented for minor arrh …
History, electrocardiograms, ECG-holter monitorings, exercise testings, imaging investigations, electrophysiological studies, genetic testin …
Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers.
Bhonsale A, Groeneweg JA, James CA, Dooijes D, Tichnell C, Jongbloed JD, Murray B, te Riele AS, van den Berg MP, Bikker H, Atsma DE, de Groot NM, Houweling AC, van der Heijden JF, Russell SD, Doevendans PA, van Veen TA, Tandri H, Wilde AA, Judge DP, van Tintelen JP, Calkins H, Hauer RN. Bhonsale A, et al. Eur Heart J. 2015 Apr 7;36(14):847-55. doi: 10.1093/eurheartj/ehu509. Epub 2015 Jan 23. Eur Heart J. 2015. PMID: 25616645
AIMS: We sought to determine the influence of genotype on clinical course and arrhythmic outcome among arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)-associated mutation carriers. ...Desmoplakin mutation carriers experienced more th …
AIMS: We sought to determine the influence of genotype on clinical course and arrhythmic outcome among arrhythmogenic right …
Exploiting SMART pass filter deactivation detection to minimize inappropriate subcutaneous implantable cardioverter defibrillator therapies: a real-world single-centre experience and management guide.
Monkhouse C, Wharmby A, Carter Z, Hunter R, Dhinoja M, Chow A, Creta A, Honarbakhsh S, Ahsan S, Orini M, Lambiase PD. Monkhouse C, et al. Europace. 2023 May 19;25(5):euad040. doi: 10.1093/europace/euad040. Europace. 2023. PMID: 37001913 Free PMC article.
AIMS: The SMART Pass (SP) algorithm is a high-pass filter that aims to reduce inappropriate therapy (IT) in subcutaneous internal cardiac defibrillator (S-ICD), but SP can deactivate due to low amplitude sensed R waves or asystole. ...SP deactivation occurred in 32 of 348 …
AIMS: The SMART Pass (SP) algorithm is a high-pass filter that aims to reduce inappropriate therapy (IT) in subcutaneous internal car …
21 results