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https://www.readbyqxmd.com/read/29622585/prevalence-and-progression-of-late-gadolinium-enhancement-in-children-and-adolescents-with-hypertrophic-cardiomyopathy
#1
Anna Axelsson Raja, Hoshang Farhad, Anne Marie Valente, John-Paul Couce, John Lynn Jefferies, Henning Bundgaard, Kenneth Zahka, Harry Lever, Anne M Murphy, Euan Ashley, Sharlene M Day, Mark V Sherrid, Ling Shi, David A Bluemke, Charles E Canter, Steven D Colan, Carolyn Y Ho
Background -Late gadolinium enhancement (LGE) on cardiac magnetic resonance imaging (CMR) is believed to represent dense replacement fibrosis. It is seen in ~60% of adult patients with hypertrophic cardiomyopathy (HCM). However, the prevalence of LGE in children and adolescents with HCM is not well established. Additionally, longitudinal studies describing the development and evolution of LGE in pediatric HCM are lacking. This study assesses the prevalence, progression, and clinical correlations of LGE in children and adolescents with, or genetically predisposed to, HCM...
April 5, 2018: Circulation
https://www.readbyqxmd.com/read/29601582/cardiovascular-disease-the-rise-of-the-genetic-risk-score
#2
Joshua W Knowles, Euan A Ashley
In a Perspective, Joshua Knowles and Euan Ashley discuss the potential for use of genetic risk scores in clinical practice.
March 2018: PLoS Medicine
https://www.readbyqxmd.com/read/29540468/genetic-reduction-in-left-ventricular-protein-kinase-c-%C3%AE-and-adverse-ventricular-remodeling-in-human-subjects
#3
Ray Hu, Michael P Morley, Jeffrey Brandimarto, Nathan R Tucker, Victoria A Parsons, Sihai D Zhao, Benjamin Meder, Hugo A Katus, Frank Rühle, Monika Stoll, Eric Villard, François Cambien, Honghuang Lin, Nicholas L Smith, Janine F Felix, Ramachandran S Vasan, Pim van der Harst, Christopher Newton-Cheh, Jin Li, Cecilia E Kim, Hakon Hakonarson, Sridhar Hannenhalli, Euan A Ashley, Christine S Moravec, W H Wilson Tang, Marjorie Maillet, Jeffery D Molkentin, Patrick T Ellinor, Kenneth B Margulies, Thomas P Cappola
BACKGROUND: Inhibition of PKC-α (protein kinase C-α) enhances contractility and cardioprotection in animal models, but effects in humans are unknown. Genotypes at rs9912468 strongly associate with PRKCA expression in the left ventricle, enabling genetic approaches to measure effects of reduced PKC-α in human populations. METHODS AND RESULTS: We analyzed the cis expression quantitative trait locus for PRKCA marked by rs9912468 using 313 left ventricular specimens from European Ancestry patients...
March 2018: Circulation. Genomic and precision medicine
https://www.readbyqxmd.com/read/29525067/applying-current-normative-data-to-prognosis-in-heart-failure-the-fitness-registry-and-the-importance-of-exercise-national-database-friend
#4
Kegan J Moneghetti, Julia Hock, Leonard Kaminsky, Ross Arena, George K Lui, Francois Haddad, Matthew Wheeler, Victor Froelicher, Euan Ashley, Jonathan Myers, Jeffrey W Christle
INTRODUCTION: Percent of predicted peak VO2 (ppVO2 ) is considered a standard measure for establishing disease severity, however, there are known limitations to traditional normative values. This study sought to compare ppVO2 from the newly derived "Fitness Registry and the Importance of Exercise: a National Database" (FRIEND) registry equation to conventional prediction equations in a clinical cohort of patients undergoing cardiopulmonary exercise testing (CPX). METHODS AND RESULTS: We selected 1094 patients referred for evaluation of heart failure (HF) symptoms who underwent CPX...
February 27, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29517365/a-reference-equation-for-maximal-aerobic-power-for-treadmill-and-cycle-ergometer-exercise-testing-analysis-from-the-friend-registry
#5
Christina G de Souza E Silva, Leonard A Kaminsky, Ross Arena, Jeffrey W Christle, Claudio Gil S Araújo, Ricardo M Lima, Euan A Ashley, Jonathan Myers
Background Maximal oxygen uptake (VO2 max) is a powerful predictor of health outcomes. Valid and portable reference values are integral to interpreting measured VO2 max; however, available reference standards lack validation and are specific to exercise mode. This study was undertaken to develop and validate a single equation for normal standards for VO2 max for the treadmill or cycle ergometer in men and women. Methods Healthy individuals ( N = 10,881; 67.8% men, 20-85 years) who performed a maximal cardiopulmonary exercise test on either a treadmill or a cycle ergometer were studied...
January 1, 2018: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/29478781/biallelic-mutations-in-atp5f1d-which-encodes-a-subunit-of-atp-synthase-cause-a-metabolic-disorder
#6
Monika Oláhová, Wan Hee Yoon, Kyle Thompson, Sharayu Jangam, Liliana Fernandez, Jean M Davidson, Jennifer E Kyle, Megan E Grove, Dianna G Fisk, Jennefer N Kohler, Matthew Holmes, Annika M Dries, Yong Huang, Chunli Zhao, Kévin Contrepois, Zachary Zappala, Laure Frésard, Daryl Waggott, Erika M Zink, Young-Mo Kim, Heino M Heyman, Kelly G Stratton, Bobbie-Jo M Webb-Robertson, Michael Snyder, Jason D Merker, Stephen B Montgomery, Paul G Fisher, René G Feichtinger, Johannes A Mayr, Julie Hall, Ines A Barbosa, Michael A Simpson, Charu Deshpande, Katrina M Waters, David M Koeller, Thomas O Metz, Andrew A Morris, Susan Schelley, Tina Cowan, Marisa W Friederich, Robert McFarland, Johan L K Van Hove, Gregory M Enns, Shinya Yamamoto, Euan A Ashley, Michael F Wangler, Robert W Taylor, Hugo J Bellen, Jonathan A Bernstein, Matthew T Wheeler
ATP synthase, H+ transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly ATP5D) is a subunit of mitochondrial ATP synthase and plays an important role in coupling proton translocation and ATP production. Here, we describe two individuals, each with homozygous missense variants in ATP5F1D, who presented with episodic lethargy, metabolic acidosis, 3-methylglutaconic aciduria, and hyperammonemia. Subject 1, homozygous for c.245C>T (p.Pro82Leu), presented with recurrent metabolic decompensation starting in the neonatal period, and subject 2, homozygous for c...
February 16, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29369833/athletic-remodeling-in-female-college-athletes-the-morganroth-hypothesis-revisited
#7
Zoe Kooreman, Geneviève Giraldeau, Gherardo Finocchiaro, Yukari Kobayashi, Matthew Wheeler, Marco Perez, Kegan Moneghetti, David Oxborough, Keith P George, Jonathan Myers, Euan Ashley, François Haddad
BACKGROUND: There is limited data regarding ventricular remodeling in college female athletes, especially when appropriate scaling of cardiac dimensions to lean body mass (LBM) is considered. Moreover, it is not well established whether cardiac remodeling in female athletes is a balanced process with proportional increase in left ventricular (LV) mass and volume or the right and LV size. METHODS: During the preparticipation competitive screening, 72 female college athletes volunteered to undergo dual energy x-ray absorptiometry scan for quantification of LBM and comprehensive 2D echocardiography including assessment of longitudinal myocardial strain...
January 23, 2018: Clinical Journal of Sport Medicine: Official Journal of the Canadian Academy of Sport Medicine
https://www.readbyqxmd.com/read/29331327/a-new-approach-to-rare-diseases-of-children-the-undiagnosed-diseases-network
#8
Chloe M Reuter, Elise Brimble, Colette DeFilippo, Annika M Dries, Gregory M Enns, Euan A Ashley, Jonathan A Bernstein, Paul Graham Fisher, Matthew T Wheeler
No abstract text is available yet for this article.
January 11, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29305036/right-ventricular-structure-and-function-in-the-veteran-ultramarathon-runner-is-there-evidence-for-chronic-maladaptation
#9
Oliver Rothwell, Keith George, John Somauroo, Rachel Lord, Mike Stembridge, Rob Shave, Martin D Hoffman, Mathew Wilson, Euan Ashley, Francois Haddad, Thijs M H Eijsvogels, David Oxborough
BACKGROUND: It has been proposed that chronic exposure to prolonged strenuous exercise may result in maladaptation of the right ventricle (RV). The aim of this study was to establish RV structure and function, including septal insertion points, using conventional echocardiography and myocardial strain (ε) imaging in a veteran population of ultramarathon runners (UR) and age- and sex-matched controls. METHODS: A retrospective study design provided 40 UR (>35 years old; mean ± SD training experience, 18 ± 12 years) and 24 sedentary controls who had previously undergone conventional two-dimensional, tissue Doppler and speckle-tracking echocardiography to measure RV size and function...
January 3, 2018: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/29237589/impact-of-demographic-features-lifestyle-and-comorbidities-on-the-clinical-expression-of-hypertrophic-cardiomyopathy
#10
REVIEW
Gherardo Finocchiaro, Emma Magavern, Gianfranco Sinagra, Euan Ashley, Michael Papadakis, Maite Tome-Esteban, Sanjay Sharma, Iacopo Olivotto
No abstract text is available yet for this article.
December 13, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29111107/mind-the-gap-current-challenges-and-future-state-of-heart-failure-care
#11
REVIEW
Michael A McDonald, Euan A Ashley, Paul W M Fedak, Nathaniel Hawkins, James L Januzzi, John J V McMurray, Victoria N Parikh, Vivek Rao, Daniyil Svystonyuk, John R Teerlink, Sean Virani
The past decade has seen many advances in the management of heart failure (HF) that have improved survival and quality of life for patients living with this condition. A number of gaps remain in our understanding of the pathophysiology of HF, and the application of emerging treatment strategies is an exciting but daunting challenge. It is possible that advances in genetic evaluation of cardiomyopathy will provide a more refined approach to characterizing HF syndromes, whereas large-scale clinical trials on the horizon should further clarify the role of novel pharmacologic agents and invasive therapies...
November 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/29040395/human-genome-sequencing-at-the-population-scale-a-primer-on-high-throughput-dna-sequencing-and-analysis
#12
REVIEW
Rachel L Goldfeder, Dennis P Wall, Muin J Khoury, John P A Ioannidis, Euan A Ashley
Most human diseases have underlying genetic causes. To better understand the impact of genes on disease and its implications for medicine and public health, researchers have pursued methods for determining the sequences of individual genes, then all genes, and now complete human genomes. Massively parallel high-throughput sequencing technology, where DNA is sheared into smaller pieces, sequenced, and then computationally reordered and analyzed, enables fast and affordable sequencing of full human genomes. As the price of sequencing continues to decline, more and more individuals are having their genomes sequenced...
October 15, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28986452/care-in-specialized-centers-and-data-sharing-increase-agreement-in-hypertrophic-cardiomyopathy-genetic-test-interpretation
#13
Aisha Furqan, Patricia Arscott, Francesca Girolami, Allison L Cirino, Michelle Michels, Sharlene M Day, Iacopo Olivotto, Carolyn Y Ho, Euan Ashley, Eric M Green, Colleen Caleshu
BACKGROUND: Clinically impactful differences in the interpretation of genetic test results occur between laboratories and clinicians. To improve the classification of variants, a better understanding of why discrepancies occur and how they can be reduced is needed. METHODS AND RESULTS: We examined the frequency, causes, and resolution of discordant variant classifications in the Sarcomeric Human Cardiomyopathy Registry (SHaRe), a consortium of international centers with expertise in the clinical management and genetic architecture of hypertrophic cardiomyopathy...
October 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28977353/incremental-value-of-right-heart-metrics-and-exercise-performance-to-well-validated-risk-scores-in-dilated-cardiomyopathy
#14
Kegan J Moneghetti, Genevieve Giraldeau, Matthew T Wheeler, Yukari Kobayashi, Bojan Vrtovec, David Boulate, Tatiana Kuznetsova, Ingela Schnittger, Joseph C Wu, Jonathan Myers, Euan Ashley, Francois Haddad
Aims: Risk stratification in heart failure (HF) relies on several established clinical risk scores, however, myocardial deformation, right heart metrics, and exercise performance have not usually been considered. This study sought to assess the incremental value of advanced echocardiographic and cardiopulmonary exercise testing (CPX) parameters to validated risk scores in HF. Methods and results: The Meta-Analysis Global Group in Chronic Heart Failure (MAGGIC) and Metabolic Exercise Test Data Combined with Cardiac and Kidney Indexes (MECKI) scores were applied to 208 ambulatory patients with dilated cardiomyopathy (DCM) who completed echocardiography in conjunction with CPX as part of the Stanford Exercise Testing registry...
July 21, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28935153/load-dependent-effects-of-apelin-on-murine-cardiomyocytes
#15
Rémi Peyronnet, Christian Bollensdorff, Rebecca A Capel, Eva A Rog-Zielinska, Christopher E Woods, David N Charo, Oleg Lookin, Giovanni Fajardo, Michael Ho, Thomas Quertermous, Euan A Ashley, Peter Kohl
The apelin peptide is described as one of the most potent inotropic agents, produced endogenously in a wide range of cells, including cardiomyocytes. Despite positive effects on cardiac contractility in multicellular preparations, as well as indications of cardio-protective actions in several diseases, its effects and mechanisms of action at the cellular level are incompletely understood. Here, we report apelin effects on dynamic mechanical characteristics of single ventricular cardiomyocytes, isolated from mouse models (control, apelin-deficient [Apelin-KO], apelin-receptor KO mouse [APJ-KO]), and rat...
November 2017: Progress in Biophysics and Molecular Biology
https://www.readbyqxmd.com/read/28918895/a-method-for-determining-exercise-oscillatory-ventilation-in-heart-failure-prognostic-value-and-practical-implications
#16
Baruch Vainshelboim, Aisha Amin, Jeffrey W Christle, Shreyas Hebbal, Euan A Ashley, Jonathan Myers
BACKGROUND: Exercise oscillatory ventilation (EOV) has been shown to be a powerful prognostic marker in chronic heart failure (CHF). However, EOV is poorly defined, its measurement lacks standardization and it is underutilized in clinical practice. The purpose of this pilot study was to investigate the prognostic value of a modified definition of EOV in patients with CHF. METHODS: Eighty-nine CHF patients (56.5±8.4years) (64% NYHA class III-IV) underwent cardiopulmonary exercise testing...
December 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28856136/impact-of-a-genetic-risk-score-for-coronary-artery-disease-on-reducing-cardiovascular-risk-a-pilot-randomized-controlled-study
#17
Joshua W Knowles, Shirin Zarafshar, Aleksandra Pavlovic, Benjamin A Goldstein, Sandra Tsai, Jin Li, Michael V McConnell, Devin Absher, Euan A Ashley, Michaela Kiernan, John P A Ioannidis, Themistocles L Assimes
PURPOSE: We tested whether providing a genetic risk score (GRS) for coronary artery disease (CAD) would serve as a motivator to improve adherence to risk-reducing strategies. METHODS: We randomized 94 participants with at least moderate risk of CAD to receive standard-of-care with (N = 49) or without (N = 45) their GRS at a subsequent 3-month follow-up visit. Our primary outcome was change in low density lipoprotein cholesterol (LDL-C) between the 3- and 6-month follow-up visits (ΔLDL-C)...
2017: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28802509/value-of-strain-imaging-and-maximal-oxygen-consumption-in-patients-with-hypertrophic-cardiomyopathy
#18
Kegan J Moneghetti, Davide Stolfo, Jeffrey W Christle, Yukari Kobayashi, Gherardo Finocchiaro, Gianfranco Sinagra, Jonathan Myers, Euan A Ashley, Francois Haddad, Matthew T Wheeler
Longitudinal strain (LS) has been shown to be predictive of outcome in hypertrophic cardiomyopathy (HC). Percent predicted peak oxygen uptake (ppVO2), among other cardiopulmonary exercise testing (CPX) metrics, is a strong predictor of prognosis in HC. However, there has been limited investigation into the combination of LS and CPX metrics. This study sought to determine how LS and parameters of exercise performance contribute to prognosis in HC. One hundred and thirty-one consecutive patients with HC who underwent CPX and stress echocardiography were included...
October 1, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28798026/navigating-genetic-and-phenotypic-uncertainty-in-left-ventricular-noncompaction
#19
EDITORIAL
June-Wha Rhee, Megan E Grove, Euan A Ashley
No abstract text is available yet for this article.
August 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28681553/contractile-reserve-and-cardiopulmonary-exercise-parameters-in-patients-with-dilated-cardiomyopathy-the-two-dimensions-of-exercise-testing
#20
Kegan J Moneghetti, Yukari Kobayashi, Jeffrey W Christle, Miyuki Ariyama, Bojan Vrtovec, Tatiana Kouznetsova, Andrew Wilson, Euan Ashley, Matthew T Wheeler, Johnathan Myers, Francois Haddad
BACKGROUND: Left ventricular (LV) contractile reserve assessed using imaging and cardiopulmonary exercise testing (CPX) has been shown to predict outcome in patients with dilated cardiomyopathy (DCM). Few clinical studies have, however, analyzed the relationship between them. METHODS: A cohort of 75 ambulatory patients with DCM underwent stress treadmill echocardiography with CPX. LV contractile reserve was calculated as absolute change (ΔLVEF=LVEFpeak -LVEFrest ) and percent change (%LVEF=[(LVEFpeak -LVEFrest )/LVEFpeak) ]×100) in LVEF, circumferential and longitudinal strain (LS)...
August 2017: Echocardiography
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