4.8 Article

Sudden Death From Genetic and Acquired Cardiomyopathies

期刊

CIRCULATION
卷 125, 期 12, 页码 1563-1576

出版社

LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1161/CIRCULATIONAHA.111.025528

关键词

sudden death; cardiomyopathy; arrhythmogenic right ventricular cardiomyopathy; dilated cardiomyopathy; hypertrophic cardiomyopathy

资金

  1. British Heart Foundation [FS/10/011/27881]
  2. Department of Health's NIHR
  3. British Heart Foundation [FS/10/011/27881] Funding Source: researchfish

向作者/读者索取更多资源

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.8
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

Article Ethnic Studies

Ethnic differences in out-of-hospital cardiac arrest among Middle Eastern Arabs and North African populations living in Qatar

Furqan B. Irfan, Maaret Castren, Zain A. Bhutta, Pooja George, Isma Qureshi, Stephen H. Thomas, Sameer A. Pathan, Guillaume Alinier, Loua A. Shaikh, Jassim A. Suwaidi, Rajvir Singh, Ashfaq Shuaib, Tooba Tariq, William J. McKenna, Peter A. Cameron, Therese Djarv

Summary: This study compared the epidemiology, clinical presentation, and outcomes of out-of-hospital cardiac arrest (OHCA) between local Middle Eastern GCC Arabs and migrant North African populations in Qatar. The results showed that North African migrant OHCA patients were younger, had fewer risk factors, favorable OHCA rhythm, received greater ACLS interventions, shorter pre-hospital response times, and longer scene times leading to better survival outcomes.

ETHNICITY & HEALTH (2021)

Editorial Material Cardiac & Cardiovascular Systems

Understanding the Myocardial Architecture of Hypertrophic Cardiomyopathy for Clinical Care

William J. McKenna, James C. Moon, Abdulbaset Sulaiman

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2019)

Article Cardiac & Cardiovascular Systems

Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype

Charlotte L. Hall, Mohammed M. Akhtar, Maria Sabater-Molina, Marta Futema, Angeliki Asimaki, Alexandros Protonotarios, Chrysoula Dalageorgou, Alan M. Pittman, Mari Paz Suarez, Beatriz Aguilera, Pilar Molina, Esther Zorio, Juan Pedro Hernandez, Francisco Pastor, Juan R. Gimeno, Petros Syrris, William J. McKenna

INTERNATIONAL JOURNAL OF CARDIOLOGY (2020)

Article Cardiac & Cardiovascular Systems

Biventricular pacemaker therapy improves exercise capacity in patients with non-obstructive hypertrophic cardiomyopathy via augmented diastolic filling on exercise

Ibrar Ahmed, Brodie L. Loudon, Khalid Abozguia, Donnie Cameron, Ganesh N. Shivu, Thanh T. Phan, Abdul Maher, Berthold Stegemann, Anthony Chow, Howard Marshall, Peter Nightingale, Francisco Leyva, Vassilios S. Vassiliou, William J. McKenna, Perry Elliott, Michael P. Frenneaux

EUROPEAN JOURNAL OF HEART FAILURE (2020)

Article Cardiac & Cardiovascular Systems

RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy

Charlotte L. Hall, Priyatansh Gurha, Maria Sabater-Molina, Angeliki Asimaki, Marta Futema, Ruth C. Lovering, Mari Paz Suarez, Beatriz Aguilera, Pilar Molina, Esther Zorio, Cristian Coarfa, Matthew J. Robertson, Sirisha M. Cheedipudi, Keat-eng Ng, Paul Delaney, Juan Pedro Hernandez, Francisco Pastor, Juan R. Gimeno, William J. McKenna, Ali J. Marian, Petros Syrris

INTERNATIONAL JOURNAL OF CARDIOLOGY (2020)

Article Cardiac & Cardiovascular Systems

Arrhythmogenic Right Ventricular Cardiomyopathy: Characterization of Left Ventricular Phenotype and Differential Diagnosis With Dilated Cardiomyopathy

Alberto Cipriani, Barbara Bauce, Manuel De Lazzari, Ilaria Rigato, Riccardo Bariani, Samuele Meneghin, Kalliopi Pilichou, Raffaella Motta, Camillo Aliberti, Gaetano Thiene, William J. McKenna, Alessandro Zorzi, Sabino Iliceto, Cristina Basso, Martina Perazzolo Marra, Domenico Corrado

JOURNAL OF THE AMERICAN HEART ASSOCIATION (2020)

Article Cardiac & Cardiovascular Systems

Diagnosis of arrhythmogenic cardiomyopathy: The Padua criteria

Domenico Corrado, Martina Perazzolo Marra, Alessandro Zorzi, Giorgia Beffagna, Alberto Cipriani, Manuel De Lazzari, Federico Migliore, Kalliopi Pilichou, Alessandra Rampazzo, Ilaria Rigato, Stefania Rizzo, Gaetano Thiene, Aris Anastasakis, Angeliki Asimaki, Chiara Bucciarelli-Ducci, Kristine H. Haugaa, Francis E. Marchlinski, Andrea Mazzanti, William J. McKenna, Antonis Pantazis, Antonio Pelliccia, Christian Schmied, Sanjay Sharma, Thomas Wichter, Barbara Bauce, Cristina Basso

INTERNATIONAL JOURNAL OF CARDIOLOGY (2020)

Review Cardiac & Cardiovascular Systems

Epidemiology of the inherited cardiomyopathies

William J. McKenna, Daniel P. Judge

Summary: Estimates of the incidence and prevalence of inherited cardiomyopathies are challenging due to incomplete and late-onset disease expression, highly variable penetrance within families, and overlapping phenotypes. Current global estimates for hypertrophic, dilated, and arrhythmogenic cardiomyopathies may be conservative.

NATURE REVIEWS CARDIOLOGY (2021)

Editorial Material Cardiac & Cardiovascular Systems

Preventing Sudden Death in Arrhythmogenic Cardiomyopathy: Careful Family and Genetic Evaluation Key to Appropriate Diagnosis and Management

Martin Ortiz-Genga, Soledad Garcia-Hernandez, Lorenzo Monserrat-Iglesias, William J. McKenna

CANADIAN JOURNAL OF CARDIOLOGY (2021)

Review Cardiac & Cardiovascular Systems

Myocardial Inflammation and Sudden Death in the Inherited Cardiomyopathies

William J. McKenna, Alida L. P. Caforio

Summary: Inherited cardiomyopathies, such as HCM, DCM, and ACM, have overlapping clinical phenotypes and varying risks of sudden death. Patient sex and disease-causing variants play a role in risk assessment. The role of inflammation as a determinant of disease development, progression, and sudden death is poorly understood but potentially important.

CANADIAN JOURNAL OF CARDIOLOGY (2022)

Article Cardiac & Cardiovascular Systems

Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants

Marta Gigli, Davide Stolfo, Sharon L. Graw, Marco Merlo, Caterina Gregorio, Suet Nee Chen, Matteo Dal Ferro, Alessia PaldinoMD, Giulia De Angelis, Francesca Brun, Jean Jirikowic, Ernesto E. Salcedo, Sylvia Turja, Diane Fatkin, Renee Johnson, J. Peter van Tintelen, Anneline S. J. M. Te Riele, Arthur A. M. Wilde, Neal K. Lakdawala, Kermshlise Picard, Daniela Miani, Daniele Muser, Giovanni Maria Severini, Hugh Calkins, Cynthia A. James, Brittney Murray, Crystal Tichnell, Victoria N. Parikh, Euan A. Ashley, Chloe Reuter, Jiangping Song, Daniel P. Judge, William J. McKenna, Matthew R. G. Taylor, Gianfranco Sinagra, Luisa Mestroni

Summary: This study found that arrhythmogenic cardiomyopathy caused by FLNCtv is phenotypically heterogeneous and characterized by a high risk of life-threatening arrhythmias, which does not seem to be associated with the severity of left ventricular dysfunction.

CIRCULATION (2021)

Article Multidisciplinary Sciences

Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree

Mario Torrado, Emilia Maneiro, Arsonval Lamounier, Miguel Fernandez-Burriel, Sara Sanchez Giralt, Ana Martinez-Carapeto, Laura Cazon, Elisa Santiago, Juan Pablo Ochoa, William J. McKenna, Luis Santome, Lorenzo Monserrat

Summary: The discovery of a rare variant in the MYBPC3 gene in a hypertrophic cardiomyopathy pedigree with several affected members suggests that this variant is associated with the disease in this family. Analysis shows that this variant leads to splice-altering activity, resulting in a deficiency of properly spliced transcripts or protein. This non-recurrent variant poses a challenge for genetic diagnosis of hypertrophic cardiomyopathy.

SCIENTIFIC REPORTS (2022)

Article Cardiac & Cardiovascular Systems

Apical Ischemia Is a Universal Feature of Apical Hypertrophic Cardiomyopathy

Rebecca K. Hughes, Joao B. Augusto, Kristopher Knott, Rhodri Davies, Hunain Shiwani, Andreas Seraphim, James W. Malcolmson, Shafik Khoury, George Joy, Saidi Mohiddin, Luis R. Lopes, William J. McKenna, Peter Kellman, Hui Xue, Maite Tome, Sanjay Sharma, Gabriella Captur, James C. Moon

Summary: This study found that apical perfusion defects are universally present in ApHCM patients, suggesting that ischemia may play a disease-defining role in ApHCM, which is supported by characteristic ECG results.

CIRCULATION-CARDIOVASCULAR IMAGING (2023)

Editorial Material Cardiac & Cardiovascular Systems

Novel strategies to evaluate the effectiveness of heart failure services

William J. McKenna, Maria Nieves Montoro-Lopez

REVISTA ESPANOLA DE CARDIOLOGIA (2020)

Article Cardiac & Cardiovascular Systems

Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis

Domenico Corrado, Peter J. van Tintelen, William J. McKenna, Richard N. W. Hauer, Aris Anastastakis, Angeliki Asimaki, Cristina Basso, Barbara Bauce, Corinna Brunckhorst, Chiara Bucciarelli-Ducci, Firat Duru, Perry Elliott, Robert M. Hamilton, Kristina H. Haugaa, Cynthia A. James, Daniel Judge, Mark S. Link, Francis E. Marchlinski, Andrea Mazzanti, Luisa Mestroni, Antonis Pantazis, Antonio Pelliccia, Martina Perazzolo Marra, Kalliopi Pilichou, Pyotr G. A. Platonov, Alexandros Protonotarios, Alessandra Rampazzo, Jeffry E. Saffitz, Ardan M. Saguner, Christian Schmied, Sanjay Sharma, Hari Tandri, Anneline S. J. M. Te Riele, Gaetano Thiene, Adalena Tsatsopoulou, Wojciech Zareba, Alessandro Zorzi, Thomas Wichter, Frank Marcus, Hugh Calkins

EUROPEAN HEART JOURNAL (2020)

暂无数据