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Dilated cardiomyopathy

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https://www.readbyqxmd.com/read/29904160/genetic-evaluation-of-cardiomyopathy-a-clinical-practice-resource-of-the-american-college-of-medical-genetics-and-genomics-acmg
#1
Ray E Hershberger, Michael M Givertz, Carolyn Y Ho, Daniel P Judge, Paul F Kantor, Kim L McBride, Ana Morales, Matthew R G Taylor, Matteo Vatta, Stephanie M Ware
PURPOSE: The purpose of this document is to provide updated guidance for the genetic evaluation of cardiomyopathy and for an approach to manage secondary findings from cardiomyopathy genes. The genetic bases of the primary cardiomyopathies (dilated, hypertrophic, arrhythmogenic right ventricular, and restrictive) have been established, and each is medically actionable; in most cases established treatments or interventions are available to improve survival, reduce morbidity, and enhance quality of life...
June 14, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29901616/a-novel-dmd-splicing-mutation-found-in-a-family-responsible-for-x-linked-dilated-cardiomyopathy-with-hyper-ckemia
#2
Jin Tang, Xueqin Song, Guang Ji, Hongran Wu, Shuyan Sun, Shan Lu, Yuan Li, Chi Zhang, Huiqing Zhang
This study was aimed to detect a new mutation responsible for X-linked dilated cardiomyopathy with hyper-CKemia.We studied a proband who presented with cardiac symptoms with hyper-CKemia, but no clinical skeletal involvement in physical examination, laboratory tests, electromyography, echocardiography, and magnetic resonance imaging (MRI) of cardiac muscles. Muscle biopsy for histopathology and immunohistochemistry for accessing sarcolemma changes. The next-generation sequencing and bioinformatics analysis were performed on the patient and Sanger sequencing was confirmed on the other 6 unaffected families...
June 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29898895/identification-of-cardioprotective-drugs-by-medium-scale-in-vivo-pharmacological-screening-on-a-drosophila-cardiac-model-of-friedreich-s-ataxia
#3
Amandine Palandri, Elodie Martin, Maria Russi, Michael Rera, Hervé Tricoire, Véronique Monnier
Friedreich's ataxia (FA) is caused by reduced levels of frataxin, a highly conserved mitochondrial protein. There is currently no effective treatment for this disease, characterized by progressive neurodegeneration and cardiomyopathy, the latter being the most common cause of death in patients. We previously developed a Drosophila melanogaster cardiac model of FA, in which the fly frataxin is inactivated specifically in the heart, leading to heart dilatation and impaired systolic function. Methylene Blue (MB) was highly efficient to prevent these cardiac dysfunctions...
June 13, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29898740/prognostic-value-of-myocardial-strain-and-late-gadolinium-enhancement-on-cardiovascular-magnetic-resonance-imaging-in-patients-with-idiopathic-dilated-cardiomyopathy-with-moderate-to-severely-reduced-ejection-fraction
#4
Seung-Hoon Pi, Sung Mok Kim, Jin-Oh Choi, Eun Kyoung Kim, Sung-A Chang, Yeon Hyeon Choe, Sang-Chol Lee, Eun-Seok Jeon
BACKGROUND: It has been reported that left ventricular (LV) myocardial strain and late gadolinium enhancement (LGE) on cardiovascular magnetic resonance (CMR) imaging have prognostic value in patients with heart failure (HF). However, previous studies included patients with various systolic functions. This study aimed to investigate the prognostic value of LV myocardial strain and LGE on CMR imaging in patients with idiopathic dilated cardiomyopathy (DCM) with reduced ejection fraction (EF < 40%)...
June 14, 2018: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/29897149/atrial-involvement-in-arrhythmogenic-right-ventricular-cardiomyopathy-patients-referred-for-ventricular-arrhythmias-ablation
#5
Lingmin Wu, Jingru Bao, Erpeng Liang, Siyang Fan, Lihui Zheng, Zhongpeng Du, Gang Chen, Ligang Ding, Shu Zhang, Yan Yao
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable myocardium disorder that predominantly affects the ventricle. Little is known about atrial involvement. This study aimed to assess atrial involvement, especially the role of genotype on atrium in ARVC. METHODS: The incidence, characterization and predictors of atrial involvement were investigated. Nine known ARVC-causing genes were screened and the correlation between genotype and atrial involvement was assessed...
June 13, 2018: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/29896993/prolonged-veno-arterial-extracorporeal-life-support-for-cardiac-failure
#6
Sabina Pw Guenther, Yasuhiro Shudo, William Hiesinger, Dipanjan Banerjee
OBJECTIVES: In intractable cardiogenic shock, extracorporeal life support frequently is the last treatment option. Outcomes of prolonged veno-arterial extracorporeal life support for cardiac failure are poorly defined. METHODS: We retrospectively analyzed 10 patients (4 females, age = 36 ± 16 years) who underwent prolonged extracorporeal life support (≥7 days) from December 2015 to March 2017 for cardiogenic shock. The primary endpoint was survival to hospital discharge...
June 1, 2018: International Journal of Artificial Organs
https://www.readbyqxmd.com/read/29895960/phosphorylation-of-the-rsrsp-stretch-is-critical-for-splicing-regulation-by-rna-binding-motif-protein-20-rbm20-through-nuclear-localization
#7
Rie Murayama, Mariko Kimura-Asami, Marina Togo-Ohno, Yumiko Yamasaki-Kato, Taeko K Naruse, Takeshi Yamamoto, Takeharu Hayashi, Tomohiko Ai, Katherine G Spoonamore, Richard J Kovacs, Matteo Vatta, Mai Iizuka, Masumi Saito, Shotaro Wani, Yuichi Hiraoka, Akinori Kimura, Hidehito Kuroyanagi
RBM20 is a major regulator of heart-specific alternative pre-mRNA splicing of TTN encoding a giant sarcomeric protein titin. Mutation in RBM20 is linked to autosomal-dominant familial dilated cardiomyopathy (DCM), yet most of the RBM20 missense mutations in familial and sporadic cases were mapped to an RSRSP stretch in an arginine/serine-rich region of which function remains unknown. In the present study, we identified an R634W missense mutation within the stretch and a G1031X nonsense mutation in cohorts of DCM patients...
June 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29894356/is-there-a-role-for-tissue-doppler-imaging-in-predicting-thromboembolic-risk-a-challenging-case-report-of-dilated-cardiomyopathy-with-intracardiac-thrombus-and-recurrent-stroke
#8
Andrea Sonaglioni, Massimo Baravelli, Antonio Vincenti, Michele Lombardo, Claudio Anzà, Gian Luigi Nicolosi
No abstract text is available yet for this article.
June 11, 2018: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/29893868/microtubule-cytoskeleton-regulates-connexin-43-localization-and-cardiac-conduction-in-cardiomyopathy-caused-by-mutation-in-a-type-lamins-gene
#9
Coline Macquart, Rene Jüttner, Caroline Le Dour, Maria Chatzifrangkeskou, Alain Schmitt, Michael Gotthardt, Gisèle Bonne, Antoine Muchir
Mutations in the lamin A/C gene (LMNA) cause an autosomal dominant inherited form of dilated cardiomyopathy associated with cardiac conduction disease (hereafter referred to as LMNA cardiomyopathy). Compared with other forms of dilated cardiomyopathy, mutations in LMNA are responsible for a more aggressive clinical course due to a high rate of malignant ventricular arrhythmias. Gap junctions are intercellular channels that allow direct communication between neighboring cells, which are involved in electrical impulse propagation and coordinated contraction of the heart...
June 8, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29892087/a-gene-centric-strategy-for-identifying-disease-causing-rare-variants-in-dilated-cardiomyopathy
#10
Claire Horvat, Renee Johnson, Lien Lam, Jacob Munro, Francesco Mazzarotto, Angharad M Roberts, Daniel S Herman, Michael Parfenov, Alireza Haghighi, Barbara McDonough, Steven R DePalma, Anne M Keogh, Peter S Macdonald, Christopher S Hayward, Amy Roberts, Paul J R Barton, Leanne E Felkin, Eleni Giannoulatou, Stuart A Cook, J G Seidman, Christine E Seidman, Diane Fatkin
PURPOSE: We evaluated strategies for identifying disease-causing variants in genetic testing for dilated cardiomyopathy (DCM). METHODS: Cardiomyopathy gene panel testing was performed in 532 DCM patients and 527 healthy control subjects. Rare variants in 41 genes were stratified using variant-level and gene-level characteristics. RESULTS: A majority of DCM cases and controls carried rare protein-altering cardiomyopathy gene variants. Variant-level characteristics alone had limited discriminative value...
June 11, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29891833/x-linked-dilated-cardiomyopathy-presenting-as-acute-rhabdomyolysis-and-presumed-epstein-barr-virus-induced-viral-myocarditis-a-case-report
#11
Jacques A J Malherbe, Sue Davel
BACKGROUND Rhabdomyolysis and primary dilated cardiomyopathies without skeletal muscle weakness are rare features of X-linked dystrophinopathies. We report a rare case of an X-linked dilated cardiomyopathy (XLDCM) presenting with acute rhabdomyolysis and myocarditis. We illustrate the confounding diagnostic influence of a reactivated, persistent EBV myocarditis as the presumed cause for this patient's XLDCM. CASE REPORT A 23-year-old Australian man presented with acute rhabdomyolysis and elevated creatine kinase (CK) levels...
June 12, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29891648/hypoxia-induced-mitogenic-factor-promotes-cardiac-hypertrophy-via-calcium-dependent-and-hypoxia-inducible-factor-1%C3%AE-mechanisms
#12
Santosh Kumar, Gang Wang, Wenjuan Liu, Wenwen Ding, Ming Dong, Na Zheng, Hongyu Ye, Jie Liu
HIMF (hypoxia-induced mitogenic factor/found in inflammatory zone 1/resistin like α) is a secretory and cytokine-like protein and serves as a critical stimulator of hypoxia-induced pulmonary hypertension. With a role for HIMF in heart disease unknown, we explored the possible roles for HIMF in cardiac hypertrophy by overexpressing and knocking down HIMF in cardiomyocytes and characterizing HIMF gene ( himf ) knockout mice. We found that HIMF mRNA and protein levels were upregulated in phenylephrine-stimulated cardiomyocyte hypertrophy and our mouse model of transverse aortic constriction-induced cardiac hypertrophy, as well as in human hearts with dilated cardiomyopathy...
June 11, 2018: Hypertension
https://www.readbyqxmd.com/read/29891249/differentiating-athlete-s-heart-from-cardiomyopathies-the-left-side
#13
Maria J Brosnan, Dhrubo Rakhit
In athletes who undertake a high volume of high intensity exercise, the resultant changes in cardiac structure and function which develop as a result of physiological adaptation to exercise (so called "Athlete's Heart") may overlap with some features of pathological conditions. This chapter will focus on the left side of the heart, where left ventricular cavity enlargement, increase in left ventricular wall thickness and increased left ventricular trabeculation associated with athletic remodelling may sometimes be difficult to differentiate from conditions such as dilated cardiomyopathy, hypertrophic cardiomyopathy or isolated left ventricular non-compaction...
May 16, 2018: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/29887441/potential-for-and-timing-of-recovery-in-children-with-dilated-cardiomyopathy
#14
Matthew J Fenton, Philippa Horne, Jacob Simmonds, Sophie L Neligan, Rachel E Andrews, Michael Burch
OBJECTIVE: Understanding the clinical course and time-frame for recovery is helpful to guide management and counselling following a diagnosis of Dilated Cardiomyopathy (DCM). We aimed to document outcomes and time to recovery for a cohort of patients with a dilated cardiomyopathy phenotype. METHODS: An observational cohort methodology was used to collect retrospective data from the departmental database for those identified with DCM. Data relating to mode of presentation, echocardiographic parameters, clinical management and outcome were collated and analysed...
September 1, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29887217/addition-of-digoxin-improves-cardiac-function-in-children-with-the-dilated-cardiomyopathy-with-ataxia-syndrome-a-mitochondrial-cardiomyopathy
#15
Steven C Greenway, Frederic Dallaire, Hassan Hazari, Dhwani Patel, Aneal Khan
BACKGROUND: The dilated cardiomyopathy with ataxia syndrome (DCMA) is a rare mitochondrial disorder characterized by progressive cardiomyopathy, prolonged QT interval and early death in childhood related to intractable heart failure. We present a case series of 9 children with DCMA who demonstrated functional improvement and favourable left ventricular remodeling only after digoxin was added to their medical therapy. METHODS: A retrospective review of 46 patients with DCMA followed at the Alberta Children's Hospital from 2005 to 2017 identified 9 patients who were treated with digoxin and had serial echocardiography data...
March 1, 2018: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/29886034/rare-genetic-mutations-in-pakistani-patients-with-dilated-cardiomyopathy
#16
Muhammad Shakeel, Muhammad Irfan, Ishtiaq Ahmad Khan
Dilated cardiomyopathy (DCM) is a leading cause of heart failure, and heart transplantation globally. There is enlargement of left ventricle of the heart impairing the systolic function in this disorder. The involvement of genetic factors in the pathogenesis of DCM has been reported in up to 50% of the cases. However, due to the complexity and heterogeneity of the disease, the complete pathophysiology remains unclear. In this study, whole exomes of five unrelated patients of idiopathic DCM were sequenced to an average depth of 100× using Illumina HiSeq4000 system...
June 7, 2018: Gene
https://www.readbyqxmd.com/read/29885652/mir-1-3p-that-correlates-with-left-ventricular-function-of-hcm-can-serve-as-a-potential-target-and-differentiate-hcm-from-dcm
#17
Mengmeng Li, Xiao Chen, Liang Chen, Kai Chen, Jianye Zhou, Jiangping Song
BACKGROUND: MicroRNAs (miRNAs) are non-coding RNAs that function as regulators of gene expression and thereby contribute to the complex disease phenotypes. Hypertrophic cardiomyopathy (HCM) and Dilated cardiomyopathy (DCM) can cause sudden cardiac death and eventually develop into heart failure. However, they have different clinical and pathophysiological phenotype and the expressional spectrum of miRNAs in left ventricles of HCM and DCM has never been compared before. METHODS: This study selected 30 human left ventricular heart samples belonged to three diagnostic groups (Control, HCM, DCM)...
June 9, 2018: Journal of Translational Medicine
https://www.readbyqxmd.com/read/29884423/phenotyping-cardiomyopathy-in-adult-zebrafish
#18
REVIEW
Alexey V Dvornikov, Pieter P de Tombe, Xiaolei Xu
Hypertrophic cardiomyopathy (HCM) is usually manifested by increased myofilament Ca2+ sensitivity, excessive contractility, and impaired relaxation. In contrast, dilated cardiomyopathy (DCM) originates from insufficient sarcomere contractility and reduced cardiac pump function, subsequently resulting in heart failure. The zebrafish has emerged as a new model of human cardiomyopathy with high-throughput screening, which will facilitate the discovery of novel genetic factors and the development of new therapies...
May 30, 2018: Progress in Biophysics and Molecular Biology
https://www.readbyqxmd.com/read/29882869/mitochondrial-fatty-acid-oxidation-disorders-associated-with-short-chain-enoyl-coa-hydratase-echs1-deficiency
#19
REVIEW
Alice J Sharpe, Matthew McKenzie
Mitochondrial fatty acid &beta;-oxidation (FAO) is the primary pathway for fatty acid metabolism in humans, performing a key role in liver, heart and skeletal muscle energy homeostasis. FAO is particularly important during times of fasting when glucose supply is limited, providing energy for many organs and tissues, including the heart, liver and brain. Deficiencies in FAO can cause life-threatening metabolic disorders in early childhood that present with liver dysfunction, hypoglycemia, dilated hypertrophic cardiomyopathy and Reye-like Syndrome...
May 23, 2018: Cells
https://www.readbyqxmd.com/read/29880546/effects-of-repetitive-transendocardial-cd34-cell-transplantation-in-patients-with-non-ischemic-dilated-cardiomyopathy
#20
Bojan Vrtovec, Gregor Poglajen, Matjaz Sever, Gregor Zemljic, Sabina Frljak, Andraz Cerar, Marko Cukjati, Martina Jaklic, Peter Cernelc, Francois Haddad, Joseph C Wu
<u>Rationale:</u> Preclinical data in heart failure models suggest that repetitive stem cell therapy may be superior to single-dose cell administration. <u>Objective:</u> We investigated whether repetitive administration of CD34+ cells is superior to single dose administration in patients with non-ischemic dilated cardiomyopathy (DCM). <u>Methods and Results:</u> Of 66 patients with DCM, NYHA functional class III, and left ventricular ejection fraction (LVEF)< 40% enrolled in the study, 60 were randomly allocated to repetitive cell therapy (Group A, N=30), or single cell therapy (Group B, N=30)...
June 7, 2018: Circulation Research
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