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Genetic cardiomyopathies

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https://www.readbyqxmd.com/read/29655825/hypertrophic-cardiomyopathy-clinical-update
#1
REVIEW
Jeffrey B Geske, Steve R Ommen, Bernard J Gersh
Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy, manifesting as left ventricular hypertrophy in the absence of a secondary cause. The genetic underpinnings of HCM arise largely from mutations of sarcomeric proteins; however, the specific underlying mutation often remains undetermined. Patient presentation is phenotypically diverse, ranging from asymptomatic to heart failure or sudden cardiac death. Left ventricular hypertrophy and abnormal ventricular configuration result in dynamic left ventricular outflow obstruction in most patients...
April 5, 2018: JACC. Heart Failure
https://www.readbyqxmd.com/read/29652902/relations-between-right-ventricular-morphology-and-clinical-electrical-and-genetic-parameters-in-brugada-syndrome
#2
Belinda Gray, Ganesh Kumar Gnanappa, Richard D Bagnall, Giuseppe Femia, Laura Yeates, Jodie Ingles, Charlotte Burns, Rajesh Puranik, Stuart M Grieve, Christopher Semsarian, Raymond W Sy
BACKGROUND: Increasing evidence suggests the presence of structural changes affecting the right ventricular outflow tract (RVOT) in patients with Brugada Syndrome (BrS). The aim of this study was to characterise the RV morphology in BrS and explore associations between morphologic, clinical, electrical, and genetic parameters using non-invasive multimodality testing. METHODS: Consecutive BrS patients (recruited 2013-2015) underwent clinical assessment, dedicated RV imaging using cardiac magnetic resonance (CMR) imaging (unless contra-indicated), electrical assessment (electrocardiogram, Holter monitoring, signal-averaged ECG[SAECG]) and genotyping...
2018: PloS One
https://www.readbyqxmd.com/read/29651156/efficient-differentiation-of-cardiomyocytes-and-generation-of-calcium-sensor-reporter-lines-from-nonhuman-primate-ipscs
#3
Yongshun Lin, Huimin Liu, Michael Klein, John Ostrominski, So Gun Hong, Ravi Chandra Yada, Guibin Chen, Keron Navarengom, Robin Schwartzbeck, Hong San, Zu-Xi Yu, Chengyu Liu, Kaari Linask, Jeanette Beers, Lugui Qiu, Cynthia E Dunbar, Manfred Boehm, Jizhong Zou
Nonhuman primate (NHP) models are more predictive than rodent models for developing induced pluripotent stem cell (iPSC)-based cell therapy, but robust and reproducible NHP iPSC-cardiomyocyte differentiation protocols are lacking for cardiomyopathies research. We developed a method to differentiate integration-free rhesus macaque iPSCs (RhiPSCs) into cardiomyocytes with >85% purity in 10 days, using fully chemically defined conditions. To enable visualization of intracellular calcium flux in beating cardiomyocytes, we used CRISPR/Cas9 to stably knock-in genetically encoded calcium indicators at the rhesus AAVS1 safe harbor locus...
April 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29628595/anesthesia-in-a-child-with-newly-diagnosed-hypertrophic-cardiomyopathy-for-placement-of-implantable-cardioverter-defibrillator
#4
Rajnish Kumar, Bibha Kumari
Hypertrophic cardiomyopathy (HCM) is a genetic myocardial disease usually characterized by asymmetric ventricular septal hypertrophy. HCM is an important cause of sudden cardiac death in adolescents and young adults. We are presenting a case report, ten years boy came in emergency with sudden loss of consciousness (witness cardiac arrest). Child was revived after cardiopulmonary resuscitation and send to coronary care unit. Echocardiography findings were suggestive of HCM. There was history of sudden death of her mother and maternal uncle...
January 2018: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/29627768/mitochondrial-ca-2-influx-contributes-to-arrhythmic-risk-in-nonischemic-cardiomyopathy
#5
An Xie, Zhen Song, Hong Liu, Anyu Zhou, Guangbin Shi, Qiongying Wang, Lianzhi Gu, Man Liu, Lai-Hua Xie, Zhilin Qu, Samuel C Dudley
BACKGROUND: Heart failure (HF) is associated with increased arrhythmia risk and triggered activity. Abnormal Ca2+ handling is thought to underlie triggered activity, and mitochondria participate in Ca2+ homeostasis. METHODS AND RESULTS: A model of nonischemic HF was induced in C57BL/6 mice by hypertension. Computer simulations were performed using a mouse ventricular myocyte model of HF. Isoproterenol-induced premature ventricular contractions and ventricular fibrillation were more prevalent in nonischemic HF mice than sham controls...
April 7, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29622585/prevalence-and-progression-of-late-gadolinium-enhancement-in-children-and-adolescents-with-hypertrophic-cardiomyopathy
#6
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/29615637/%C3%AE-2a-adrenergic-blockade-attenuates-septic-cardiomyopathy-by-increasing-cardiac-norepinephrine-concentration-and-inhibiting-cardiac-endothelial-activation
#7
Xiaohui Yu, Yuan Wang, Duomeng Yang, Xiangxu Tang, Hongmei Li, Xiuxiu Lv, Renbin Qi, Chaofeng Hu, Daxiang Lu, Ben Lv, Huadong Wang
Cardiomyopathy is a common complication associated with increased mortality in sepsis, but lacks specific therapy. Here, using genetic and pharmacological approaches, we explored the therapeutic effect of α2A -adrenergic receptor (AR) blockade on septic cardiomyopathy. CLP-induced septic rats were treated with BRL44408 (α2A -AR antagonist), prazosin (α1 -AR antagonist) and/or reserpine. CLP-induced cardiomyopathy, indicated by reduced dP/dt and increased cardiac troponin I phosphorylation, was attenuated by BRL44408, this was associated with reduced cardiac TNF-α and endothelial VCAM-1 expression, cardiomyocyte apoptosis and related signal molecule phosphorylation...
April 3, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29615062/kars-related-diseases-progressive-leukoencephalopathy-with-brainstem-and-spinal-cord-calcifications-as-new-phenotype-and-a-review-of-literature
#8
Anna Ardissone, Davide Tonduti, Andrea Legati, Eleonora Lamantea, Rita Barone, Imen Dorboz, Odile Boespflug-Tanguy, Gabriella Nebbia, Marco Maggioni, Barbara Garavaglia, Isabella Moroni, Laura Farina, Anna Pichiecchio, Simona Orcesi, Luisa Chiapparini, Daniele Ghezzi
BACKGROUND: KARS encodes lysyl- transfer ribonucleic acid (tRNA) synthetase, which catalyzes the aminoacylation of tRNA-Lys in the cytoplasm and mitochondria. Eleven families/sporadic patients and 16 different mutations in KARS have been reported to date. The associated clinical phenotype is heterogeneous ranging from early onset encephalopathy to isolated peripheral neuropathy or nonsyndromic hearing impairment. Recently additional presentations including leukoencephalopathy as predominant cerebral involvement or cardiomyopathy, isolated or associated with muscular and cerebral involvement, have been reported...
April 4, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29614691/novel-speg-mutations-in-congenital-myopathy-without-centralized-nuclei
#9
Xavière Lornage, Pascal Sabouraud, Béatrice Lannes, Dominique Gaillard, Raphaël Schneider, Jean-François Deleuze, Anne Boland, Julie Thompson, Johann Böhm, Valérie Biancalana, Jocelyn Laporte
Congenital myopathies are clinically and genetically heterogeneous, and are classified based on typical structural abnormalities on muscle sections. Recessive mutations in the striated muscle preferentially expressed protein kinase (SPEG) were recently reported in patients with centronuclear myopathy (CNM) associated in most cases with dilated cardiomyopathy. Here we report the identification of novel biallelic truncating SPEG mutations in a patient with moderate congenital myopathy without clinical and histological hallmarks of CNM and without cardiomyopathy...
March 26, 2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29606362/usefulness-of-genetic-study-by-next-generation-sequencing-in-high-risk-arrhythmogenic-cardiomyopathy
#10
Amalio Ruiz Salas, José Peña Hernández, Carmen Medina Palomo, Alberto Barrera Cordero, Fernando Cabrera Bueno, José Manuel García Pinilla, Ana Guijarro, Luis Morcillo-Hidalgo, Manuel Jiménez Navarro, Juan José Gómez Doblas, Eduardo de Teresa, Javier Alzueta
INTRODUCTION AND OBJECTIVES: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by progressive fibrofatty replacement of predominantly right ventricular myocardium. This cardiomyopathy is a frequent cause of sudden cardiac death in young people and athletes. The aim of our study was to determine the incidence of pathological or likely pathological desmosomal mutations in patients with high-risk definite ARVC. METHODS: This was an observational, retrospective cohort study, which included 36 patients diagnosed with high-risk ARVC in our hospital between January 1998 and January 2015...
March 29, 2018: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29601906/melatonin-therapy-for-diabetic-cardiomyopathy-a-mechanism-involving-syk-mitochondrial-complex-i-serca-pathway
#11
Hao Zhou, Yan Yue, Jin Wang, Qiang Ma, Yundai Chen
Melatonin and its metabolites have been demonstrated to modulate the glucose, dyslipidemia and other metabolic disorders. This study aimed to explore a novel mechanism responsible for diabetic cardiomyopathy development, and also validated whether melatonin played a protective role in repairing damaged heart in the diabetes setting. Our data demonstrated that spleen tyrosine kinase (Syk) was activated by chronic high-glucose stimulus and contributed to the development of diabetic cardiomyopathy. However, genetic ablation of Syk or supplementation of melatonin to inhibit Syk activation improved diabetic myocardial function, reduced cardiac fibrosis and preserved cardiomyocytes viability...
March 28, 2018: Cellular Signalling
https://www.readbyqxmd.com/read/29600108/hydroxychloroquine-induced-cardiomyopathy-and-heart-failure-in-twins
#12
Hang Zhao, Joyce Wald, Michael Palmer, Yuchi Han
Hydroxychloroquine (HCQ)-induced cardiomyopathy is one of the rare but severe complications following prolonged HCQ use. However, the exact mechanism of HCQ cardiotoxicity remains unclear and it is difficult to identify risk factors. We present a case of twin sisters who both suffered from systemic lupus erythematosus (SLE) and HCQ-induced cardiomyopathy presenting with decompensated heart failure (HF), suggesting that genetic predisposition might be a factor in HCQ-induced cardiomyopathy.
January 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29598884/outcome-of-clinical-management-in-relatives-of-sudden-cardiac-death-victims
#13
Katrine M Müllertz, Morten K Christiansen, Anders K Broendberg, Lisbeth N Pedersen, Henrik K Jensen
BACKGROUND: International guidelines recommend clinical assessment of the surviving first-degree relatives of sudden cardiac death (SCD) victims to identify a probable cause of death and protect surviving relatives. Only few studies have reported the outcome of clinical management and follow-up of relatives to SCD victims. METHODS: We performed a retrospective cohort study of the clinical and genetic assessment of surviving relatives of SCD victims referred to the Clinic of Inherited Cardiac Diseases at Aarhus University Hospital, Denmark, between 1995 and 2016...
March 8, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29579189/cardiac-voltage-gated-sodium-channel-mutations-associated-with-left-atrial-dysfunction-and-stroke-in-children
#14
Adrien Moreau, Alexandre Janin, Gilles Millat, Philippe Chevalier
Aims: Cardiac atrial arrhythmias are the most common type of heart rhythm disorders. Its genetic elucidation remains challenging with poor understanding of cellular and molecular processes. These arrhythmias usually affect elderly population but in rare cases, young children may also suffer from such electrical diseases. Severe complications, including stroke, are commonly age related. This study aims to identify a genetic link between electro-mechanic atrial dysfunction and stroke in children...
March 22, 2018: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29577422/notch4-is-a-possible-novel-susceptibility-gene-for-dilated-cardiomyopathy-in-the-chinese-population-a-case-control-study
#15
Xiaoqing Shi, Yang Zhang, Bingjie Li, Mengle Peng, Yingying Yuan, Ximing Wang, Xinqiang Li, Dongze Yu, Yongzhe Li, Dongchun Qin
BACKGROUND: The incidence of dilated cardiomyopathy (DCM) has increased in recent years, and many studies have sought to further improve the general understanding of this condition. Previous studies have demonstrated that some single nucleotide polymorphisms (SNPs) associated with systemic lupus erythematosus also affect susceptibility to DCM, suggesting that immune-related diseases may share similar genetic susceptibility. Recent large-scale and genome-wide association studies have identified NCR3, NOTCH4, CYP1A2, ITGA1, OPRM1, ST8SIA2, and LINC00704 as genetic risk factors associated with cardiac manifestations of neonatal lupus...
March 26, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29576856/macroautophagy-and-chaperone-mediated-autophagy-in-heart-failure-the-known-and-the-unknown
#16
REVIEW
Rajeshwary Ghosh, J Scott Pattison
Cardiac diseases including hypertrophic and ischemic cardiomyopathies are increasingly being reported to accumulate misfolded proteins and damaged organelles. These findings have led to an increasing interest in protein degradation pathways, like autophagy, which are essential not only for normal protein turnover but also in the removal of misfolded and damaged proteins. Emerging evidence suggests a previously unprecedented role for autophagic processes in cardiac physiology and pathology. This review focuses on the major types of autophagic processes, the genes and protein complexes involved, and their regulation...
2018: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29574588/should-primary-prevention-icds-still-be-placed-in-patients-with-non-ischemic-cardiomyopathy-a-review-of-the-evidence
#17
REVIEW
Harsha V Ganga, Abhishek Maan, E Kevin Heist
PURPOSE OF REVIEW: Recent evidence has suggested that implantable defibrillator (ICD) in non-ischemic cardiomyopathy (NICM) may not offer mortality benefit in the presence of guideline-directed medical therapy (GDMT) and cardiac resynchronization therapy (CRT). RECENT FINDINGS: Despite significant benefits of GDMT and CRT, current evidence is derived from ICD trials that rely predominantly on reduced left ventricular ejection fraction alone (LVEF). The majority of patients with sudden cardiac death (SCD) have LVEF > 30% indicating that LVEF by itself is an inadequate predictor of SCD...
March 24, 2018: Current Cardiology Reports
https://www.readbyqxmd.com/read/29572196/familial-hypertrophic-cardiomyopathy-identification-of-cause-and-risk-stratification-through-exome-sequencing
#18
Amitabh Biswas, Soumi Das, Mitali Kapoor, Karuthedath Vellarikkal Shamsudheen, Rijith Jayarajan, Ankit Verma, Sandeep Seth, Balram Bhargava, Vinod Scaria, Sridhar Sivasubbu, V R Rao
BACKGROUND: Hypertrophic cardiomyopathy with variable clinical presentations and heterogeneity is the common cause of sudden cardiac death. Genetic diagnosis is challenging in these complex diseases but exome sequencing as a genetic diagnostic tool provides explainable results. METHODS: In a familial Hypertrophic cardiomyopathy with multigenerational inheritance with apparent phenotype, had a history of sudden death and severe arrhythmia followed by implantation of Implantable cardioverter defibrillator...
March 20, 2018: Gene
https://www.readbyqxmd.com/read/29567486/genetic-evaluation-of-cardiomyopathy-a-heart-failure-society-of-america-practice-guideline
#19
Ray E Hershberger, Michael Givertz, Carolyn Y Ho, Daniel P Judge, Paul Kantor, Kim L McBride, Ana Morales, Matthew R G Taylor, Matteo Vatta, Stephanie M Ware
This guideline describes the approach and expertise needed for the genetic evaluation of cardiomyopathy. First published in 2009 by the Heart Failure Society of America (HFSA), this guidance has now been updated in collaboration with the American College of Medical Genetics and Genomics (ACMG). The writing group, composed of cardiologists and genetics professionals with expertise in adult and pediatric cardiomyopathy, reflects the emergence and increased clinical activity devoted to cardiovascular genetic medicine...
March 19, 2018: Journal of Cardiac Failure
https://www.readbyqxmd.com/read/29565424/efficacy-safety-profile-and-immunogenicity-of-alglucosidase-alfa-produced-at-the-4-000-liter-scale-in-us-children-and-adolescents-with-pompe-disease-advance-a-phase-iv-open-label-prospective-study
#20
Si Houn Hahn, David Kronn, Nancy D Leslie, Loren D M Pena, Pranoot Tanpaiboon, Michael J Gambello, James B Gibson, Richard Hillman, David W Stockton, John W Day, Raymond Y Wang, Kristina An Haack, Raheel Shafi, Susan Sparks, Yang Zhao, Catherine Wilson, Priya S Kishnani
PurposePompe disease results from lysosomal acid α-glucosidase (GAA) deficiency and its associated glycogen accumulation and muscle damage. Alglucosidase alfa (recombinant human GAA (rhGAA)) received approval in 2006 as a treatment for Pompe disease at the 160 L production scale. In 2010, larger-scale rhGAA was approved for patients up to 8 years old without cardiomyopathy. NCT01526785 evaluated 4,000 L rhGAA efficacy/safety in US infantile- or late-onset Pompe disease (IOPD, LOPD) patients up to 1 year old transitioned from 160 L rhGAA...
March 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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