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JOURNAL ARTICLE
Rafik Tadros, Catherine Francis, Xiao Xu, Alexa M C Vermeer, Andrew R Harper, Roy Huurman, Ken Kelu Bisabu, Roddy Walsh, Edgar T Hoorntje, Wouter P Te Rijdt, Rachel J Buchan, Hannah G van Velzen, Marjon A van Slegtenhorst, Jentien M Vermeulen, Joost Allard Offerhaus, Wenjia Bai, Antonio de Marvao, Najim Lahrouchi, Leander Beekman, Jacco C Karper, Jan H Veldink, Elham Kayvanpour, Antonis Pantazis, A John Baksi, Nicola Whiffin, Francesco Mazzarotto, Geraldine Sloane, Hideaki Suzuki, Deborah Schneider-Luftman, Paul Elliott, Pascale Richard, Flavie Ader, Eric Villard, Peter Lichtner, Thomas Meitinger, Michael W T Tanck, J Peter van Tintelen, Andrew Thain, David McCarty, Robert A Hegele, Jason D Roberts, Julie Amyot, Marie-Pierre Dubé, Julia Cadrin-Tourigny, Geneviève Giraldeau, Philippe L L'Allier, Patrick Garceau, Jean-Claude Tardif, S Matthijs Boekholdt, R Thomas Lumbers, Folkert W Asselbergs, Paul J R Barton, Stuart A Cook, Sanjay K Prasad, Declan P O'Regan, Jolanda van der Velden, Karin J H Verweij, Mario Talajic, Guillaume Lettre, Yigal M Pinto, Benjamin Meder, Philippe Charron, Rudolf A de Boer, Imke Christiaans, Michelle Michels, Arthur A M Wilde, Hugh Watkins, Paul M Matthews, James S Ware, Connie R Bezzina
The heart muscle diseases hypertrophic (HCM) and dilated (DCM) cardiomyopathies are leading causes of sudden death and heart failure in young, otherwise healthy, individuals. We conducted genome-wide association studies and multi-trait analyses in HCM (1,733 cases), DCM (5,521 cases) and nine left ventricular (LV) traits (19,260 UK Biobank participants with structurally normal hearts). We identified 16 loci associated with HCM, 13 with DCM and 23 with LV traits. We show strong genetic correlations between LV traits and cardiomyopathies, with opposing effects in HCM and DCM...
February 2021: Nature Genetics
#2
JOURNAL ARTICLE
Francesca Brun, Marta Gigli, Sharon L Graw, Daniel P Judge, Marco Merlo, Brittney Murray, Hugh Calkins, Gianfranco Sinagra, Matthew Rg Taylor, Luisa Mestroni, Cynthia A James
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that affects predominantly the right ventricle and is part of the spectrum of arrythmogenic cardiomyopathies (ACMs). ARVC is a genetic condition; however, a pathogenic gene variant is found in only half of patients. OBJECTIVE: Filamin C gene truncations ( FLNCtv ) have recently been identified in dilated cardiomyopathy with ventricular arrhythmia and sudden cardiac death, a phenotype partially overlapping with ARVC and part of the ACM spectrum...
April 2020: Journal of Medical Genetics
#3
LETTER
Chanatjit Cheawsamoot, Chureerat Phokaew, Wanna Chetruengchai, Poonchavist Chantranuwat, Sarinya Puwanant, Sissades Tongsima, Apichai Khongphatthanayothin, Vorasuk Shotelersuk
No abstract text is available yet for this article.
December 2020: Circulation. Genomic and Precision Medicine
#4
JOURNAL ARTICLE
Zuhair N Al-Hassnan, Abdulrahman Almesned, Sahar Tulbah, Ali Alakhfash, Faten Alhadeq, Nadiah Alruwaili, Maarab Alkorashy, Amal Alhashem, Ahmad Alrashdan, Eissa Faqeih, Salwa M Alkhalifi, Zainab Al Humaidi, Sameera Sogaty, Nawal Azhari, Abdulrahman M Bakhaider, Ali Al Asmari, Ali Awaji, Buthaina Albash, Mohammed Alhabdan, Malak A Alghamdi, Walaa Alshuaibi, Raghad Z Al-Hassnan, Abduljabbar Alshenqiti, Aisha Alqahtani, Zarghuna Shinwari, Monther Rbabeh, Saud Takroni, Ahmed Alomrani, Dimpna C Albert Brotons, Abdullah M AlQwaee, Waleed Almanea, Fadel A Alfadley, Majid Alfayyadh, Abdullah Alwadai
BACKGROUND: Childhood-onset cardiomyopathy is a heterogeneous group of conditions the cause of which is largely unknown. The influence of consanguinity on the genetics of cardiomyopathy has not been addressed at a large scale. METHODS: To unravel the genetic cause of childhood-onset cardiomyopathy in a consanguineous population, a categorized approach was adopted. Cases with childhood-onset cardiomyopathy were consecutively recruited. Based on the likelihood of founder mutation and on the clinical diagnosis, genetic test was categorized to either (1) targeted genetic test with targeted mutation test, single-gene test, or multigene panel for Noonan syndrome, or (2) untargeted genetic test with whole-exome sequencing or whole-genome sequencing...
October 2020: Circulation. Genomic and Precision Medicine
#5
JOURNAL ARTICLE
Taisuke Ishikawa, Hiroyuki Mishima, Julien Barc, Masanori P Takahashi, Keiichi Hirono, Shigenori Terada, Shinya Kowase, Teruki Sato, Yasushi Mukai, Yoshiaki Yui, Kimie Ohkubo, Hiroki Kimoto, Hiroyuki Watanabe, Yukiko Hata, Takeshi Aiba, Seiko Ohno, Akiko Chishaki, Wataru Shimizu, Minoru Horie, Fukiko Ichida, Akihiko Nogami, Koh-Ichiro Yoshiura, Jean-Jacques Schott, Naomasa Makita
BACKGROUND: Mutations in the nuclear envelope genes encoding LMNA and EMD are responsible for Emery-Dreifuss muscular dystrophy. However, LMNA mutations often manifest dilated cardiomyopathy with conduction disturbance without obvious skeletal myopathic complications. On the contrary, the phenotypic spectrums of EMD mutations are less clear. Our aims were to determine the prevalence of nonsyndromic forms of emerinopathy, which may underlie genetically undefined isolated cardiac conduction disturbance, and the etiology of thromboembolic complications associated with EMD mutations...
October 2020: Circulation. Arrhythmia and Electrophysiology
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JOURNAL ARTICLE
Jordan E Ezekian, Sarah R Clippinger, Jaquelin M Garcia, Qixin Yang, Susan Denfield, Aamir Jeewa, William J Dreyer, Wenxin Zou, Yuxin Fan, Hugh D Allen, Jeffrey J Kim, Michael J Greenberg, Andrew P Landstrom
Background Pediatric-onset restrictive cardiomyopathy (RCM) is associated with high mortality, but underlying mechanisms of disease are under investigated. RCM-associated diastolic dysfunction secondary to variants in TNNT2 -encoded cardiac troponin T (TNNT2) is poorly described. Methods and Results Genetic analysis of a proband and kindred with RCM identified TNNT2-R94C, which cosegregated in a family with 2 generations of RCM, ventricular arrhythmias, and sudden death. TNNT2-R94C was absent among large, population-based cohorts Genome Aggregation Database (gnomAD) and predicted to be pathologic by in silico modeling...
March 3, 2020: Journal of the American Heart Association
#7
REVIEW
Antonio Cannatà, Giulia De Angelis, Andrea Boscutti, Camilla Normand, Jessica Artico, Piero Gentile, Massimo Zecchin, Stephane Heymans, Marco Merlo, Gianfranco Sinagra
Sudden cardiac death and arrhythmia-related events in patients with non-ischaemic dilated cardiomyopathy (NICM) have been significantly reduced over the last couple of decades as a result of evidence-based pharmacological and non-pharmacological therapeutic strategies. Nevertheless, the arrhythmic stratification in patients with NICM remains extremely challenging, and the simple indication based on left ventricular ejection fraction appears to be insufficient. Therefore, clinicians need to go beyond the current criteria for implantable cardioverter-defibrillator implantation in the direction of a multiparametric evaluation of arrhythmic risk...
May 2020: Heart
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JOURNAL ARTICLE
Geoffroy Delplancq, Georges Tarris, Antonio Vitobello, Sophie Nambot, Arthur Sorlin, Christophe Philippe, Virginie Carmignac, Yannis Duffourd, Charlotte Denis, Jean Christophe Eicher, Martin Chevarin, Gilles Millat, Bouchra Khallouk, Thierry Rousseau, Sylvie Falcon-Eicher, Alexandre Vasiljevic, Fara T Harizay, Christel Thauvin-Robinet, Laurence Faivre, Paul Kuentz
PRDM16 (positive regulatory domain 16) is localized in the critical region for cardiomyopathy in patients with deletions of chromosome 1p36, as defined by Gajecka et al., American Journal of Medical Genetics, 2010, 152A, 3074-3083, and encodes a zinc finger transcription factor. We present the first fetal case of left ventricular non-compaction (LVNC) with a PRDM16 variant. The third-trimester obstetric ultrasound revealed a hydropic fetus with hydramnios and expanded hypokinetic heart. After termination of pregnancy, foetopathology showed a eutrophic fetus with isolated cardiomegaly...
March 2020: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
#9
JOURNAL ARTICLE
Gabrielle Norrish, Joanna Jager, Ella Field, Ellie Quinn, Hannah Fell, Emma Lord, Marcos N Cicerchia, Juan Pablo Ochoa, Elena Cervi, Perry M Elliott, Juan Pablo Kaski
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a heritable myocardial disease with age-related penetrance. Current guidelines recommend clinical screening of relatives beginning at 10 years of age, but the clinical value of this approach has not been systematically evaluated. METHODS: Anonymized clinical data were collected from children referred for family screening between 1994 and 2017 after diagnosis of HCM in a first-degree relative. RESULTS: Of 1198 consecutive children (≤18 years of age) from 594 families who underwent serial evaluation (median, 3...
July 16, 2019: Circulation
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JOURNAL ARTICLE
Oyediran Akinrinade, Tiina Heliö, Ronald H Lekanne Deprez, Jan D H Jongbloed, Ludolf G Boven, Maarten P van den Berg, Yigal M Pinto, Tero-Pekka Alastalo, Samuel Myllykangas, Karin van Spaendonck-Zwarts, J Peter van Tintelen, Paul A van der Zwaag, Juha Koskenvuo
Recent advancements in next generation sequencing (NGS) technology have led to the identification of the giant sarcomere gene, titin (TTN), as a major human disease gene. Truncating variants of TTN (TTNtv) especially in the A-band region account for 20% of dilated cardiomyopathy (DCM) cases. Much attention has been focused on assessment and interpretation of TTNtv in human disease; however, missense and non-frameshifting insertions/deletions (NFS-INDELs) are difficult to assess and interpret in clinical diagnostic workflow...
March 11, 2019: Scientific Reports
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JOURNAL ARTICLE
Catalina Vasilescu, Tiina H Ojala, Virginia Brilhante, Simo Ojanen, Helena M Hinterding, Eino Palin, Tero-Pekka Alastalo, Juha Koskenvuo, Anita Hiippala, Eero Jokinen, Timo Jahnukainen, Jouko Lohi, Jaana Pihkala, Tiina A Tyni, Christopher J Carroll, Anu Suomalainen
BACKGROUND: Childhood cardiomyopathies are progressive and often lethal disorders, forming the most common cause of heart failure in children. Despite severe outcomes, their genetic background is still poorly characterized. OBJECTIVES: The purpose of this study was to characterize the genetics of severe childhood cardiomyopathies in a countrywide cohort. METHODS: The authors collected a countrywide cohort, KidCMP, of 66 severe childhood cardiomyopathies from the sole center in Finland performing cardiac transplantation...
November 6, 2018: Journal of the American College of Cardiology
#12
REVIEW
Ilaria Stadiotti, Giulio Pompilio, Angela Serena Maione, Chiara Assunta Pilato, Yuri D'Alessandra, Elena Sommariva
Blood, serum and plasma represent accessible sources of data about physiological and pathologic status. In arrhythmogenic cardiomyopathy (ACM), circulating nucleated cells are routinely used for detection of germinal genetic mutations. In addition, different biomarkers have been proposed for diagnostic purposes and for monitoring disease progression, including inflammatory cytokines, markers of myocardial dysfunction and damage, and microRNAs. This review summarizes the current information that can be retrieved from the blood of ACM patients and considers the future prospects...
March 2019: Heart Rhythm: the Official Journal of the Heart Rhythm Society
#13
REVIEW
James S Ware, Stuart A Cook
Dilated cardiomyopathy (DCM) affects approximately 1 in 250 individuals and is the leading indication for heart transplantation. DCM is often familial, and the most common genetic predisposition is a truncating variation in the giant sarcomeric protein, titin, which occurs in up to 15% of ambulant patients with DCM and 25% of end-stage or familial cases. In this article, we review the evidence for the role of titin truncation in the pathogenesis of DCM and our understanding of the molecular mechanisms and pathophysiological consequences of variation in the gene encoding titin (TTN)...
April 2018: Nature Reviews. Cardiology
#14
EDITORIAL
Ray E Hershberger, Ana Morales, Jason Cowan
No abstract text is available yet for this article.
December 2017: Circulation. Cardiovascular Genetics
#15
JOURNAL ARTICLE
Cameron H Landry, Katherine S Allan, Kim A Connelly, Kris Cunningham, Laurie J Morrison, Paul Dorian
BACKGROUND: The incidence of sudden cardiac arrest during participation in sports activities remains unknown. Preparticipation screening programs aimed at preventing sudden cardiac arrest during sports activities are thought to be able to identify at-risk athletes; however, the efficacy of these programs remains controversial. We sought to identify all sudden cardiac arrests that occurred during participation in sports activities within a specific region of Canada and to determine their causes...
November 16, 2017: New England Journal of Medicine
#16
JOURNAL ARTICLE
Farbod Sedaghat-Hamedani, Jan Haas, Feng Zhu, Christian Geier, Elham Kayvanpour, Martin Liss, Alan Lai, Karen Frese, Regina Pribe-Wolferts, Ali Amr, Daniel Tian Li, Omid Shirvani Samani, Avisha Carstensen, Diana Martins Bordalo, Marion Müller, Christine Fischer, Jing Shao, Jing Wang, Ming Nie, Li Yuan, Sabine Haßfeld, Christine Schwartz, Min Zhou, Zihua Zhou, Yanwen Shu, Min Wang, Kai Huang, Qiutang Zeng, Longxian Cheng, Tobias Fehlmann, Philipp Ehlermann, Andreas Keller, Christoph Dieterich, Katrin Streckfuß-Bömeke, Yuhua Liao, Michael Gotthardt, Hugo A Katus, Benjamin Meder
AIMS: In this study, we aimed to clinically and genetically characterize LVNC patients and investigate the prevalence of variants in known and novel LVNC disease genes. INTRODUCTION: Left ventricular non-compaction cardiomyopathy (LVNC) is an increasingly recognized cause of heart failure, arrhythmia, thromboembolism, and sudden cardiac death. We sought here to dissect its genetic causes, phenotypic presentation and outcome. METHODS AND RESULTS: In our registry with follow-up of in the median 61 months, we analysed 95 LVNC patients (68 unrelated index patients and 27 affected relatives; definite familial LVNC = 23...
December 7, 2017: European Heart Journal
#17
JOURNAL ARTICLE
Upasana Tayal, Simon Newsome, Rachel Buchan, Nicola Whiffin, Brian Halliday, Amrit Lota, Angharad Roberts, A John Baksi, Inga Voges, Will Midwinter, Alijca Wilk, Risha Govind, Roddy Walsh, Piers Daubeney, Julian W E Jarman, Resham Baruah, Michael Frenneaux, Paul J Barton, Dudley Pennell, James S Ware, Sanjay K Prasad, Stuart A Cook
BACKGROUND: Improved understanding of dilated cardiomyopathy (DCM) due to titin truncation (TTNtv) may help guide patient stratification. OBJECTIVES: The purpose of this study was to establish relationships among TTNtv genotype, cardiac phenotype, and outcomes in DCM. METHODS: In this prospective, observational cohort study, DCM patients underwent clinical evaluation, late gadolinium enhancement cardiovascular magnetic resonance, TTN sequencing, and adjudicated follow-up blinded to genotype for the primary composite endpoint of cardiovascular death, and major arrhythmic and major heart failure events...
October 31, 2017: Journal of the American College of Cardiology
#18
MULTICENTER STUDY
Steven E Lipshultz, E John Orav, James D Wilkinson, Jeffrey A Towbin, Jane E Messere, April M Lowe, Lynn A Sleeper, Gerald F Cox, Daphne T Hsu, Charles E Canter, Juanita A Hunter, Steven D Colan
BACKGROUND: Treatment of children with hypertrophic cardiomyopathy might be improved if the risk of death or heart transplantation could be predicted by risk factors present at the time of diagnosis. METHODS: We analysed data from the Pediatric Cardiomyopathy Registry, which collected longitudinal data for 1085 children with hypertrophic cardiomyopathy from 1990 to 2009. Our goal was to understand how patient factors measured at diagnosis predicted the subsequent risk of the primary outcome of death or heart transplantation...
December 7, 2013: Lancet
#19
JOURNAL ARTICLE
Karol Miszalski-Jamka, John L Jefferies, Wojciech Mazur, Jan Głowacki, Jianhong Hu, Monika Lazar, Richard A Gibbs, Jacek Liczko, Jan Kłyś, Eric Venner, Donna M Muzny, Jarosław Rycaj, Jacek Białkowski, Ewa Kluczewska, Zbigniew Kalarus, Shalini Jhangiani, Hussein Al-Khalidi, Tomasz Kukulski, James R Lupski, William J Craigen, Matthew N Bainbridge
BACKGROUND: Left ventricular noncompaction (LVNC) is a genetically and phenotypically heterogeneous disease and, although increasingly recognized in clinical practice, there is a lack of widely accepted diagnostic criteria. We sought to identify novel genetic causes of LVNC and describe genotype-phenotype correlations. METHODS AND RESULTS: A total of 190 patients from 174 families with left ventricular hypertrabeculation (LVHT) or LVNC were referred for cardiac magnetic resonance and whole-exome sequencing...
August 2017: Circulation. Cardiovascular Genetics
#20
JOURNAL ARTICLE
Paul A van der Zwaag, Jan D H Jongbloed, Maarten P van den Berg, Jasper J van der Smagt, Roselie Jongbloed, Hennie Bikker, Robert M W Hofstra, J Peter van Tintelen
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a hereditary cardiomyopathy characterized by fibrofatty replacement of cardiomyocytes, ventricular tachyarrhythmias and sudden death. ARVD/C is mainly caused by mutations in genes encoding desmosomal proteins. However, the pathogenicity of variants is not always clear. Therefore, we created an online database (www.arvcdatabase.info), providing information on variants in ARVD/C-associated genes. We searched the literature using ARVD/C and its underlying genes as search terms...
September 2009: Human Mutation
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