Review
Pediatrics
Gabrielle Norrish, Ella Field, Juan P. Kaski
Summary: Hypertrophic cardiomyopathy, caused by sarcomeric protein gene variants, is a common cause of childhood cardiomyopathy with good short-term outcomes but high long-term morbidity and mortality risks. Management focuses on symptom relief and complication prevention, but potential disease-modifying therapies offer promise for improving outcomes in young patients.
FRONTIERS IN PEDIATRICS
(2021)
Article
Cardiac & Cardiovascular Systems
Gabrielle Norrish, Cristian Topriceanu, Chen Qu, Ella Field, Helen Walsh, Lidia Ziolkowska, Iacopo Olivotto, Silvia Passantino, Silvia Favilli, Aris Anastasakis, Vasiliki Vlagkouli, Robert Weintraub, Ingrid King, Elena Biagini, Luca Ragni, Terrence Prendiville, Sophie Duignan, Karen McLeod, Maria Ilina, Adrian Fernandez, Regina Bokenkamp, Anwar Baban, Fabrizio Drago, Peter Kubus, Piers E. F. Daubeney, Sian Chivers, Georgia Sarquella-Brugada, Sergi Cesar, Chiara Marrone, Constancio Medrano, Reyes Alvarez Garcia-Roves, Orhan Uzun, Ferran Gran, Fernandez J. Castro, Juan R. Gimeno, Roberto Barriales-Villa, Fernando Rueda, Satish Adwani, Jonathan Searle, Tara Bharucha, Ana Siles, Ana Usano, Torsten B. Rasmussen, Caroline B. Jones, Toru Kubo, Jens Mogensen, Zdenka Reinhardt, Elena Cervi, Perry M. Elliott, Rumana Z. Omar, Juan P. Kaski
Summary: This study aimed to describe the ECG phenotype of childhood HCM in a large, international, multi-centre cohort and investigate its role in risk prediction for arrhythmic events. The results showed that ECG abnormalities were common in childhood HCM, but none of them were associated with 5-year arrhythmic events, suggesting limited role of baseline ECG phenotype in improving risk stratification in childhood HCM.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2022)
Review
Cardiac & Cardiovascular Systems
Gherardo Finocchiaro, Nabeel Sheikh, Ornella Leone, Joe Westaby, Francesco Mazzarotto, Antonis Pantazis, Cecilia Ferrantini, Leonardo Sacconi, Michael Papadakis, Sanjay Sharma, Mary N. Sheppard, Iacopo Olivotto
Summary: Myocardial disarray is characterized by disorganized spatial distribution of cardiomyocytes, without physiological fiber alignment. While initially thought to be specific to hypertrophic cardiomyopathy, recent studies suggest disarray may be present in other cardiac conditions. Further research is needed to determine the diagnostic value and clinical significance of disarray in HCM.
Article
Cardiac & Cardiovascular Systems
Gabrielle Norrish, Chen Qu, Ella Field, Elena Cervi, Diala Khraiche, Sabine Klaassen, Tiina H. Ojala, Gianfranco Sinagra, Hirokuni Yamazawa, Chiara Marrone, Anca Popoiu, Fernando Centeno, Sylvie Schouvey, Iacopo Olivotto, Sharlene M. Day, Steve Colan, Joseph Rossano, Samuel G. Wittekind, Sara Saberi, Mark Russell, Adam Helms, Jodie Ingles, Christopher Semsarian, Perry M. Elliott, Carolyn Y. Ho, Rumana Z. Omar, Juan P. Kaski
Summary: This study conducted the first external validation of the HCM Risk-Kids model in a large and geographically diverse patient population. A 5-year predicted risk of >= 6% identified over 70% of events, confirming the model's ability to provide individualized risk predictions and shared decision-making in children with HCM.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
A. J. Marian
Summary: Hypertrophic cardiomyopathy (HCM) is a genetic disease characterized by left ventricular hypertrophy and may lead to heart failure or sudden cardiac death. Pathogenic variants in genes encoding myocardial protein constituents, especially MYH7 and MYBPC3 genes, are the main causes of HCM. Advances in genetic testing and drug development have improved the therapeutic prospects for HCM.
CIRCULATION RESEARCH
(2021)
Review
Biochemistry & Molecular Biology
Hamza El Hadi, Anne Freund, Steffen Desch, Holger Thiele, Nicolas Majunke
Summary: Cardiomyopathies are a diverse group of heart muscle disorders with potentially fatal consequences such as arrhythmias and heart failure. They are a leading cause of heart transplantation worldwide. Recent advancements in understanding the molecular basis and diagnostic evaluation have paved the way for targeted therapies. However, further research is needed to improve risk assessment and prevention strategies for sudden cardiac death.
Article
Genetics & Heredity
Augusto Akira Mori, Lara Reinel de Castro, Raul Hernandes Bortolin, Gisele Medeiros Bastos, Victor Fernandes de Oliveira, Glaucio Monteiro Ferreira, Thiago Dominguez Crespo Hirata, Cristina Moreno Fajardo, Marcelo Ferraz Sampaio, Dalmo Antonio Ribeiro Moreira, Jose Carlos Pachon-Mateos, Edileide de Barros Correia, Amanda Guerra de Moraes Rego Sousa, Maria Brion, Angel Carracedo, Rosario Dominguez Crespo Hirata, Mario Hiroyuki Hirata
Summary: Genetic variants in sarcomeric genes are associated with the risk of sudden cardiac death and severity of left ventricular hypertrophy in hypertrophic cardiomyopathy patients. Functional variants may contribute to severe LVH, family history, and risk factors for sudden cardiac death.
FORENSIC SCIENCE INTERNATIONAL-GENETICS
(2021)
Article
Cardiac & Cardiovascular Systems
Jennifer Conway, Sandar Min, Chet Villa, Robert G. Weintraub, Stephanie Nakano, Justin Godown, Mark Tatangelo, Kathryn Armstrong, Marc Richmond, Beth Kaufman, Ashwin K. Lal, Seshadri Balaji, Alyssa Power, Nathanya Baez Hernandez, Letizia Gardin, Paul F. Kantor, John J. Parent, Peter F. Aziz, John L. Jefferies, Andreea Dragulescu, Aamir Jeewa, Lee Benson, Mark W. Russell, Robert Whitehill, Joseph Rossano, Taylor Howard, Seema Mital
Summary: This study found that abnormal exercise response in pediatric patients with hypertrophic cardiomyopathy (HCM) is associated with adverse outcomes. It suggests that exercise testing in childhood HCM can be helpful for risk assessment.
Article
Cardiac & Cardiovascular Systems
Pietro Francia, Giacomo Silvetti, Pietro Cosentino, Ernesto Cristiano, Carmen Adduci, Giacomo Tini, Maria Beatrice Musumeci, Massimo Volpe, Camillo Autore
Summary: Delayed intrinsicoid deflection (DID) on electrocardiogram (ECG) is associated with increased risk of sudden cardiac arrest (SCA) in patients with hypertrophic cardiomyopathy (HCM), beyond the impact of left ventricular hypertrophy (LVH). If validated in prospective studies, this ECG marker could be used to refine risk prediction.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Simon Greulich, Andreas Seitz, Diana Herter, Fabian Guenther, Sabine Probst, Raffi Bekeredjian, Meinrad Gawaz, Udo Sechtem, Heiko Mahrholdt
Summary: The study evaluated the prognostic value of LGE-CMR for SCD risk stratification in patients with hypertrophic cardiomyopathy (HCM) over a 10-year follow-up period, suggesting that LGE amount may enhance the discriminatory power of established risk models.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2021)
Article
Cardiac & Cardiovascular Systems
Gabrielle Norrish, Tao Ding, Ella Field, Elena Cervi, Lidia Ziolkowska, Iacopo Olivotto, Diala Khraiche, Giuseppe Limongelli, Aris Anastasakis, Robert Weintraub, Elena Biagini, Luca Ragni, Terrence Prendiville, Sophie Duignan, Karen McLeod, Maria Ilina, Adrian Fernandez, Chiara Marrone, Regina Bokenkamp, Anwar Baban, Peter Kubus, Piers E. F. Daubeney, Georgia Sarquella-Brugada, Sergi Cesar, Sabine Klaassen, Tiina H. Ojala, Vinay Bhole, Constancio Medrano, Orhan Uzun, Elspeth Brown, Ferran Gran, Gianfranco Sinagra, Francisco J. Castro, Graham Stuart, Gabriele Vignati, Hirokuni Yamazawa, Roberto Barriales-Villa, Luis Garcia-Guereta, Satish Adwani, Katie Linter, Tara Bharucha, Pablo Garcia-Pavia, Ana Siles, Torsten B. Rasmussen, Margherita Calcagnino, Caroline B. Jones, Hans De Wilde, Toru Kubo, Tiziana Felice, Anca Popoiu, Jens Mogensen, Sujeev Mathur, Fernando Centeno, Zdenka Reinhardt, Sylvie Schouvey, Costas O'Mahony, Rumana Z. Omar, Perry M. Elliott, Juan Pablo Kaski
Summary: This study in a large international pediatric HCM cohort found an inverted U-shaped relationship between left ventricular hypertrophy and estimated SCD risk, with the presence of additional risk factors having a cumulative effect. These findings suggest that MLVWT should not be used alone as a binary variable or in isolation to guide implantable cardioverter defibrillator implantation decisions in children with HCM.
CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY
(2022)
Review
Cardiac & Cardiovascular Systems
Thomas Gossios, Konstantinos Savvatis, Thomas Zegkos, Dimitrios Ntelios, Pavlos Rouskas, Despoina Parcharidou, Haralambos Karvounis, Georgios K. Efthimiadis
Summary: Comprehensive assessment of patients with hypertrophic cardiomyopathy involves confirmation of diagnosis, differentiation between different types of diseases, and prognostication. Electrocardiography remains a significant tool in clinical assessment due to its availability and speed.
HEART FAILURE REVIEWS
(2022)
Article
Cardiac & Cardiovascular Systems
Hyun-Jung Lee, Hyung-Kwan Kim, Sang Chol Lee, Jihoon Kim, Jun-Bean Park, In-Chang Hwang, You-Jung Choi, Seung-Pyo Lee, Sung-A Chang, Whal Lee, Eun-Ah Park, Goo-Yeong Cho, Yong-Jin Kim
Summary: This study investigated the prognostic role of LV-GLS and its incremental value in predicting SCD in patients with HCM. The results showed that lower LV-GLS values were associated with higher rates of SCD events. LV-GLS provided additional information to established risk models and improved their predictive performance for SCD.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2022)
Article
Multidisciplinary Sciences
Andrew E. Radbill, Lucy Y. Lei, Sachin Y. Paranjape, Daniel J. Blackwell, Robert L. Abraham, Derek S. Chew, Satish R. Raj, Bjorn C. Knollmann
Summary: This study aimed to assess rate-dependence of clinical surrogates of contractility and repolarization in humans with hypertrophic cardiomyopathy. Findings show that rapid pacing trains triggered ventricular ectopy in hypertrophic cardiomyopathy patients, but not controls. However, there were no significant differences observed in surrogate measures for cardiac contractility, suggesting that altered length-dependent myofilament activation may not have significant clinical implications in these patients.
Article
Cardiac & Cardiovascular Systems
Lutong Pu, Jialin Li, Weitang Qi, Jinquan Zhang, Hongyu Chen, Zihuan Tang, Yuchi Han, Jie Wang, Yucheng Chen
Summary: This article reviews the latest research findings on the pathogenesis, risk stratification, and prevention of sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM) patients, with a focus on the clinical application of cardiovascular magnetic resonance imaging for SCD management.
HEART FAILURE REVIEWS
(2023)
Review
Medicine, General & Internal
John Alexander Brooks, Christopher McCudden, Ari Breiner, Pierre R. Bourque
Article
Biochemistry & Molecular Biology
Robert H. Oakley, Diana Cruz-Topete, Bo He, Julie F. Foley, Page H. Myers, Xiaojiang Xu, Celso E. Gomez-Sanchez, Pierre Chambon, Monte S. Willis, John A. Cidlowski
Article
Medical Laboratory Technology
Joannes F. M. Jacobs, Katherine A. Turner, Maria Stella Graziani, Jody L. Frinack, Michael W. Ettore, Jillian R. Tate, Ronald A. Booth, Christopher R. McCudden, David F. Keren, Julio C. Delgado, Galina Zemtsovskaja, Robert O. Fullinfaw, Anna Caldini, Theo de Malmanche, Katina Katakouzinos, Matthew Burke, Giovanni Palladini, Sara Altinier, Martina Zaninotto, Gabriella Righetti, Marie Therese Melki, Stephen Bell, Maria Alice Vieira Willrich
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2020)
Article
Medical Laboratory Technology
Katherine A. Turner, Jody L. Frinack, Michael W. Ettore, Jillian R. Tate, Maria Stella Graziani, Joannes F. M. Jacobs, Ronald A. Booth, Christopher R. McCudden, David F. Keren, Julio C. Delgado, Galina Zemtsovskaja, Robert O. Fullinfaw, Anna Caldini, Theo de Malmanche, Katina Katakouzinos, Matthew Burke, Giovanni Palladini, Sara Altinier, Martina Zaninotto, Gabriella Righetti, Marie Therese Melki, Stephen Bell, Maria Alice Vieira Willrich
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2020)
Review
Pathology
Vidyani Suryadevara, Michael Kluppel, Federica del Monte, Monte S. Willis
AMERICAN JOURNAL OF PATHOLOGY
(2020)
Article
Biochemistry & Molecular Biology
Carl van Walraven, Stefan Rodic, Christopher McCudden
JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY
(2020)
Letter
Urology & Nephrology
Rayees Sheikh, Swapnil Hiremath, Edward G. Clark, Ayub Akbari, Christopher McCudden, Pierre Antoine Brown
KIDNEY INTERNATIONAL REPORTS
(2020)
Editorial Material
Medical Laboratory Technology
Christopher R. McCudden
CLINICAL CHEMISTRY
(2020)
Review
Biochemistry & Molecular Biology
Stefan Rodic, Christopher McCudden, Carl van Walraven
Summary: Several small studies have found possible associations between low serum zinc levels and worse outcomes in acutely hospitalized patients. However, current research on the association between serum zinc levels and outcomes in hospitalized patients is limited by sample sizes, patient populations, and statistical analyses. The relationship between zinc levels and outcomes in hospitalized patients remains unclear.
BIOLOGICAL TRACE ELEMENT RESEARCH
(2021)
Article
Medical Laboratory Technology
Adam Suleman, D. William Cameron, Vicente Corrales-Medina, Christopher McCudden, Juthaporn Cowan
Summary: The study evaluated the performance of serum protein gap (PG) in detecting hyper- or hypogammaglobulinemia, showing that high and low PG values were not sensitive in detection, but had high negative predictive values.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2021)
Article
Geriatrics & Gerontology
Joshua R. Huot, Fabrizio Pin, Ashok Narasimhan, Leah J. Novinger, Austin S. Keith, Teresa A. Zimmers, Monte S. Willis, Andrea Bonetto
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2020)
Article
Medicine, Research & Experimental
Tatsuya Aonuma, Bruno Moukette, Satoshi Kawaguchi, Nipuni P. Barupala, Marisa N. Sepulveda, Christopher Corr, Yaoliang Tang, Suthat Liangpunsakul, R. Mark Payne, Monte S. Willis, Il-Man Kim
Summary: MicroRNA-150 (miR-150) expression is downregulated in patients with cardiovascular diseases and heart failure. Conditional cardiomyocyte-specific miR-150 knockout worsens maladaptive cardiac remodeling after myocardial infarction in mice. The study identifies small proline-rich protein 1a (Sprr1a) as a potential novel target of miR-150, with upregulated expression in ischemic myocardium and downregulated expression by carvedilol in mouse hearts. Targeting Sprr1a in mice prevents maladaptive post-MI remodeling and suggests a crucial role for the miR-150/SPRR1A axis in regulating cardiomyocyte function post-MI.
Article
Medical Laboratory Technology
Douglas F. Stickle, Rebecca Koob, Christopher R. McCudden
Summary: Serum potassium exhibits a positive shift relative to plasma potassium due to clotting, which means that plasma potassium results outside of the reference interval may not produce classification-concordant results in serum. In this study, simulation results indicate that serum potassium should be considered an inferior substitute marker for plasma potassium.
CLINICAL BIOCHEMISTRY
(2023)
Article
Medical Laboratory Technology
Julie L. Shaw, Christopher R. McCudden, David A. Colantonio, Ronald A. Booth, Danny C. Lin, Ivan M. Blasutig, Thomas Moran, Dana Trofimczuk, Chantal Carriere, Anas Gharra, Cheryl Portelance, Chantal Tremblay, Dianne Dupaul, Nathalie Breton, Merina Angelkovski, Chetan Jariwala, Maureen Embleton, Christine Campbell, Kristina Groulx, Karen Larmour
PRACTICAL LABORATORY MEDICINE
(2020)
Article
Endocrinology & Metabolism
Cathy J. Sun, Christopher McCudden, Diane Brisson, Julie Shaw, Daniel Gaudet, Teik C. Ooi
JOURNAL OF THE ENDOCRINE SOCIETY
(2020)