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restrictive cardiomyopathy

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https://www.readbyqxmd.com/read/28797094/whole-gene-sequencing-identifies-deep-intronic-variants-with-potential-functional-impact-in-patients-with-hypertrophic-cardiomyopathy
#1
Rita Mendes de Almeida, Joana Tavares, Sandra Martins, Teresa Carvalho, Francisco J Enguita, Dulce Brito, Maria Carmo-Fonseca, Luís Rocha Lopes
BACKGROUND: High throughput sequencing technologies have revolutionized the identification of mutations responsible for genetic diseases such as hypertrophic cardiomyopathy (HCM). However, approximately 50% of individuals with a clinical diagnosis of HCM have no causal mutation identified. This may be due to the presence of pathogenic mutations located deep within the introns, which are not detected by conventional sequencing analysis restricted to exons and exon-intron boundaries. OBJECTIVE: The aim of this study was to develop a whole-gene sequencing strategy to prioritize deep intronic variants that may play a role in HCM pathogenesis...
2017: PloS One
https://www.readbyqxmd.com/read/28793004/abnormal-diastolic-function-underlies-the-different-beneficial-effects-of-cardiac-resynchronization-therapy-on-ischemic-and-non-ischemic-cardiomyopathy
#2
Qi Wang, Kang-Yu Chen, Fei Yu, Hao Su, Chun-Sheng An, Yang Hu, Dong-Mei Yang, Jian Xu, Ji Yan
OBJECTIVES: To investigate the association between diastolic function and the different beneficial effects of cardiac resynchronization therapy in patients with heart failure due to different causes. METHODS: The 104 enrolled patients were divided into an ischemic cardiomyopathy group (n=27) and a non-ischemic cardiomyopathy group (n=77) according to the cause of heart failure. Before implantation, left ventricular diastolic function was evaluated in all patients using echocardiography...
July 2017: Clinics
https://www.readbyqxmd.com/read/28772037/cardiac-and-peripheral-autonomic-control-in-restrictive-cardiomyopathy
#3
Ana Luiza C Sayegh, Marcelo R Dos Santos, Adriana O Sarmento, Francis R de Souza, Vera M C Salemi, Viviane T Hotta, Akothirene Cristhina D B Marques, Heidrum H Krämer, Ivani C Trombetta, Charles Mady, Maria Janieire de Nazaré Nunes Alves
AIMS: Autonomic dysfunction determines the advance of dilated cardiomyopathy (DCM) and is related to poor outcomes. However, this autonomic imbalance is unknown in patients with restrictive cardiomyopathy (RCM) even though they have similar symptoms and poor quality of life as DCM patients have. The aim of this study was to evaluate if autonomic and neurovascular controls were altered in RCM patients. METHODS AND RESULTS: Fifteen RCM patients, 10 DCM patients, and 10 healthy subjects were evaluated...
August 2017: ESC Heart Failure
https://www.readbyqxmd.com/read/28768908/nonmyocyte-erk1-2-signaling-contributes-to-load-induced-cardiomyopathy-in-marfan-mice
#4
Rosanne Rouf, Elena Gallo MacFarlane, Eiki Takimoto, Rahul Chaudhary, Varun Nagpal, Peter P Rainer, Julia G Bindman, Elizabeth E Gerber, Djahida Bedja, Christopher Schiefer, Karen L Miller, Guangshuo Zhu, Loretha Myers, Nuria Amat-Alarcon, Dong I Lee, Norimichi Koitabashi, Daniel P Judge, David A Kass, Harry C Dietz
Among children with the most severe presentation of Marfan syndrome (MFS), an inherited disorder of connective tissue caused by a deficiency of extracellular fibrillin-1, heart failure is the leading cause of death. Here, we show that, while MFS mice (Fbn1C1039G/+ mice) typically have normal cardiac function, pressure overload (PO) induces an acute and severe dilated cardiomyopathy in association with fibrosis and myocyte enlargement. Failing MFS hearts show high expression of TGF-β ligands, with increased TGF-β signaling in both nonmyocytes and myocytes; pathologic ERK activation is restricted to the nonmyocyte compartment...
August 3, 2017: JCI Insight
https://www.readbyqxmd.com/read/28768581/cardiac-defects-morbidity-and-mortality-in-patients-affected-by-rasopathies-carnet-study-results
#5
Giulio Calcagni, Giuseppe Limongelli, Angelo D'Ambrosio, Francesco Gesualdo, M Cristina Digilio, Anwar Baban, Sonia B Albanese, Paolo Versacci, Enrica De Luca, Giovanni B Ferrero, Giuseppina Baldassarre, Gabriella Agnoletti, Elena Banaudi, Jan Marek, Juan P Kaski, Giulia Tuo, M Giovanna Russo, Giuseppe Pacileo, Ornella Milanesi, Daniela Messina, Maurizio Marasini, Francesca Cairello, Roberto Formigari, Maurizio Brighenti, Bruno Dallapiccola, Marco Tartaglia, Bruno Marino
BACKGROUND: RASopathies are developmental disease caused by mutations in genes encoding for signal transducers of the RAS-MAPK cascade. The aim of the present study was to provide a comprehensive description of morbidity and mortality in patients with molecularly confirmed RASopathy. METHODS: A multicentric, observational, retrospective study was conducted in seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET). Clinical records of 371 patients with confirmed molecular diagnosis of RASopathy were reviewed...
July 21, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28767663/contribution-of-exome-sequencing-for-genetic-diagnostic-in-arrhythmogenic-right-ventricular-cardiomyopathy-dysplasia
#6
Joel Fedida, Veronique Fressart, Philippe Charron, Elodie Surget, Tiphaine Hery, Pascale Richard, Erwan Donal, Boris Keren, Guillaume Duthoit, Françoise Hidden-Lucet, Eric Villard, Estelle Gandjbakhch
BACKGROUND: Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) is an inherited cardiomyopathy mainly caused by heterozygous desmosomal gene mutations, the major gene being PKP2. The genetic cause remains unknown in ~50% of probands with routine desmosomal gene screening. The aim of this study was to assess the diagnostic accuracy of whole exome sequencing (WES) in ARVC/D with negative genetic testing. METHODS: WES was performed in 22 patients, all without a mutation identified in desmosomal genes...
2017: PloS One
https://www.readbyqxmd.com/read/28734448/alternative-strategy-for-biventricular-assist-device-in-an-infant-with-hypertrophic-cardiomyopathy
#7
John C Dykes, Olaf Reinhartz, Christopher S Almond, Vamsi Yarlagadda, Jenna Murray, David N Rosenthal, Katsuhide Maeda
We report an infant with hypertrophic cardiomyopathy who underwent biventricular assist device placement with two 15-mL Berlin Heart EXCOR pediatric ventricular assist devices using an alternative atrial cannulation strategy. The systemic circulation was supported by left atrium (LA) to aorta cannulation. The LA was accessed through the right atrium by extending a 6-mm EXCOR cannula with a Gore-Tex graft connected to an atrial septal defect. The pulmonary circulation was supported with cannulation of the right atrium to pulmonary artery...
August 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28703267/restrictive-cardiomyopathy-due-to-novel-desmin-gene-mutation
#8
Natalia Ojrzyńska, Zofia T Bilińska, Maria Franaszczyk, Rafał Płoski, Jacek Grzybowski
No abstract text is available yet for this article.
2017: Kardiologia Polska
https://www.readbyqxmd.com/read/28701670/impact-of-compound-hypertonic-saline-solution-on-decompensated-heart-failure
#9
RANDOMIZED CONTROLLED TRIAL
Yanfang Wan, Lei Li, Heping Niu, Xiaoli Ma, Jing Yang, Chen Yuan, Guichen Mu, Jun Zhang
The aim of the present study was to evaluate the effects of hypertonic saline solution (C-HSS) with high dose furosemide on hospitalization time, readmission, and mortality in patients with New York Heart Association (NYHA) class III heart failure.Decompensated heart failure patients (NYHA III) with chronic ischemic or nonischemic cardiomyopathy and ejection fraction < 40% were divided into 2 groups in an open-label random manner: the first group received a 1-hour intravenous infusion of furosemide (100 mg) plus compound C-HSS (100 mL) twice daily and underwent serious water restriction (500 mL/day); the second group received furosemide intravenous bolus (100 mg) twice a day and water restriction (500 mL/day), without C-HSS...
August 3, 2017: International Heart Journal
https://www.readbyqxmd.com/read/28694354/myocardial-upregulation-of-cathepsin-d-by-ischemic-heart-disease-promotes-autophagic-flux-and-protects-against-cardiac-remodeling-and-heart-failure
#10
Penglong Wu, Xun Yuan, Faqian Li, Jianhua Zhang, Wei Zhu, Meng Wei, Jingbo Li, Xuejun Wang
BACKGROUND: Lysosomal dysfunction is implicated in human heart failure for which ischemic heart disease is the leading cause. Altered myocardial expression of CTSD (cathepsin D), a major lysosomal protease, was observed in human heart failure, but its pathophysiological significance has not been determined. METHODS AND RESULTS: Western blot analyses revealed an increase in the precursor but not the mature form of CTSD in myocardial samples from explanted human failing hearts with ischemic heart disease, which is recapitulated in chronic myocardial infarction produced via coronary artery ligation in Ctsd(+/+) but not Ctsd(+/-) mice...
July 2017: Circulation. Heart Failure
https://www.readbyqxmd.com/read/28691201/combined-myocardial-deformation-to-predict-cardiac-resynchronization-therapy-response-in-non-ischemic-cardiomyopathy
#11
Ning Yang, Zhao-Guang Liang, Zhao-Jun Wang, Hui Liu, Chao Chi, Yan-Feng Tian, Shu-Han Qi, Bi-Yu Wang, Wei Han
BACKGROUND: 20-30% of patients do not benefit from CRT when the established selection criteria were applied. We hypothesized that a combined assessment of mechanical dyssynchrony, myocardial deformation and diastolic function would identify patients who would benefit most from CRT. METHOD: In 36 CRT patients, clinical evaluation and echocardiography were performed before and after CRT. Patients were classified into 3 subgroups according to their amount of response: echocardiographic responders, clinical responders, and nonresponders...
July 10, 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/28670500/peculiar-clinical-presentation-of-coxsackievirus-b4-infection-neonatal-restrictive-cardiomyopathy
#12
Pauline Le Van Quyen, Philippe Desprez, Angelo Livolsi, Véronique Lindner, Samira Fafi-Kremer, Pauline Helms, Maria Cristina Antal
Introduction  Restrictive cardiomyopathy in fetuses and neonates is extremely rare and has a poor outcome. Its etiology in neonates is elusive: metabolic diseases (e.g., Gaucher, Hurler syndrome), neuromuscular disorders (e.g., muscular dystrophies, myofibrillar myopathies), or rare presentation of genetic syndromes (e.g., Coffin-Lowry syndrome) account for a minority of the cases, the majority remaining idiopathic. Case Study  We report the case of a 17-day-old male infant presenting cardiogenic shock following a restrictive dysfunction of the left ventricle...
April 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28658491/health-status-benefits-of-transcatheter-vs-surgical-aortic-valve-replacement-in-patients-with-severe-aortic-stenosis-at-intermediate-surgical-risk-results-from-the-partner-2-randomized-clinical-trial
#13
Suzanne J Baron, Suzanne V Arnold, Kaijun Wang, Elizabeth A Magnuson, Khaja Chinnakondepali, Raj Makkar, Howard C Herrmann, Susheel Kodali, Vinod H Thourani, Samir Kapadia, Lars Svensson, David L Brown, Michael J Mack, Craig R Smith, Martin B Leon, David J Cohen
Importance: In patients with severe aortic stenosis (AS) at intermediate surgical risk, treatment with transcatheter aortic valve replacement (TAVR) or surgical aortic valve replacement (SAVR) results in similar 2-year survival. The effect of TAVR vs SAVR on health status in patients at intermediate surgical risk is unknown. Objective: To compare health-related quality of life among intermediate-risk patients with severe AS treated with either TAVR or SAVR. Design, Setting, and Participants: Between December 2011 and November 2013, 2032 intermediate-risk patients with severe AS were randomized to TAVR with the Sapien XT valve or SAVR in the Placement of Aortic Transcatheter Valve 2 Trial and were followed up for 2 years...
August 1, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28655414/heart-and-heart-liver-transplantation-in-patients-with-hemochromatosis
#14
Monique R Robinson, Sadeer G Al-Kindi, Guilherme H Oliveira
BACKGROUND: Hemochromatosis predisposes to dilated or restrictive cardiomyopathy which can progress to end-stage heart failure, requiring the use of advanced heart therapies including heart (HT) and heart liver (HLT) transplantation. Little is known about the characteristics and outcomes of these patients. METHODS AND RESULTS: We queried the United Network for Organ Sharing (UNOS) registry for all patients listed for HT or HLT for a diagnosis of 'hemochromatosis' between 1987 and 2014...
June 21, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28650931/hypertrophic-restrictive-cardiomyopathy-with-apical-thinning-a-peculiar-case-of-genotype-phenotype-correlation
#15
Pierluigi Lesizza, Marco Merlo, Giancarlo Vitrella, Gianfranco Sinagra
: Hypertrophic cardiomyopathy (HCM) is the most common cardiomyopathy, mainly caused by mutations in genes encoding for sarcomere proteins. Even though many mutations have been recognized to be causative of HCM, specific HCM phenotypes can be rarely predicted by the genotype, possibly as a consequence of the presence of still unknown disease-modifying genes [Maron et al. (2013). Lancet 381:242-55]. In this very peculiar case of HCM hypertrophy localized to left ventricle, mid-wall segments coexisted with a restrictive filling pattern and an apical wall thinning mimicking hypoplasia of left ventricle apex...
June 24, 2017: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/28647415/restrictive-arteriopathy-in-late-onset-pompe-disease-case-report-and-review-of-the-literature
#16
Konark Malhotra, David C Carrington, David S Liebeskind
Late-onset Pompe disease (LOPD) is an adult type of classical Pompe disease and presents without cardiomyopathy. Neuroimaging in LOPD is typically limited to posterior circulation and involves dilative arteriopathy, especially dolichoectasia and intracranial aneurysms. We report an interesting case of an established diagnosis of asymptomatic LOPD in a young man with a restrictive-variant pattern in posterior vasculature. We discuss the clinical presentation, neuroimaging, existing literature, and prognosis in vascular variants of LOPD...
June 21, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28645928/molecular-mechanisms-in-cardiomyopathy
#17
REVIEW
Keith Dadson, Ludger Hauck, Filio Billia
Cardiomyopathies represent a heterogeneous group of diseases that negatively affect heart function. Primary cardiomyopathies specifically target the myocardium, and may arise from genetic [hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), mitochondrial cardiomyopathy] or genetic and acquired [dilated cardiomyopathy (DCM), restrictive cardiomyopathy (RCM)] etiology. Modern genomics has identified mutations that are common in these populations, while in vitro and in vivo experimentation with these mutations have provided invaluable insight into the molecular mechanisms native to these diseases...
July 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28622497/feline-panleukopenia-virus-is-not-associated-with-myocarditis-or-endomyocardial-restrictive-cardiomyopathy-in-cats
#18
Laura McEndaffer, Alex Molesan, Hollis Erb, Kathleen Kelly
Canine parvovirus-2 (CPV-2) is nearly indistinguishable from feline panleukopenia virus (FPV) and is a well-known cause of viral myocarditis in young puppies; however, it is not known whether either FPV or CPV-2 naturally infects feline cardiomyocytes and causes myocarditis. Endomyocarditis (EMC) and left ventricular endomyocardial fibrosis (LVEF), clinically known as "endomyocardial restrictive cardiomyopathy," are important feline heart diseases suspected to have an infectious etiology. A continuum is suggested with EMC representing the acute reaction to an unknown infectious agent and LVEF the chronic manifestation of repair...
July 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/28617995/investigation-of-an-n-terminal-prohormone-of-brain-natriuretic-peptide-point-of-care-elisa-in-clinically-normal-cats-and-cats-with-cardiac-disease
#19
A N Harris, S S Beatty, A H Estrada, B Winter, M Bohannon, I Sosa, J Hanscom, C A Mainville, A E Gallagher
BACKGROUND: N-terminal prohormone of brain natriuretic peptide (NT-proBNP) concentrations may be increased in cats with various cardiac disorders. The point-of-care (POC) ELISA assay uses the same biologic reagents as the quantitative NT-proBNP ELISA. Previous studies have evaluated the sensitivity and specificity of the POC ELISA in cats with cardiac disease. OBJECTIVES: To prospectively evaluate the diagnostic utility of the POC ELISA in a select population of cats...
July 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28597748/hypereosinophilic-cardiac-disease
#20
Laura Filippetti, Olivier Huttin, Christine Selton-Suty, Damien Voilliot
Hypereosinophilia may be due to several aetiologies. Cardiac complications are not uncommon, whatever the causes. Clinical presentations of hypereosinophilic cardiac diseases may vary widely from asymptomatic form to fatal necrotic myocarditis or irreversible restrictive cardiomyopathy. As a major cause of morbidity and mortality, diagnosis of cardiac involvement is crucial. Until recently the diagnosis was exclusively based on cardiac biopsy. Nowadays, multimodal cardiac imaging, including echocardiography and cardiac magnetic resonance imaging, is the cornerstone of the diagnosis...
February 2017: Acta Cardiologica
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