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restrictive cardiomyopathy

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https://www.readbyqxmd.com/read/27908349/truncating-flnc-mutations-are-associated-with-high-risk-dilated-and-arrhythmogenic-cardiomyopathies
#1
Martín F Ortiz-Genga, Sofía Cuenca, Matteo Dal Ferro, Esther Zorio, Ricardo Salgado-Aranda, Vicente Climent, Laura Padrón-Barthe, Iria Duro-Aguado, Juan Jiménez-Jáimez, Víctor M Hidalgo-Olivares, Enrique García-Campo, Chiara Lanzillo, M Paz Suárez-Mier, Hagith Yonath, Sonia Marcos-Alonso, Juan P Ochoa, José L Santomé, Diego García-Giustiniani, Jorge L Rodríguez-Garrido, Fernando Domínguez, Marco Merlo, Julián Palomino, María L Peña, Juan P Trujillo, Alicia Martín-Vila, Davide Stolfo, Pilar Molina, Enrique Lara-Pezzi, Francisco E Calvo-Iglesias, Eyal Nof, Leonardo Calò, Roberto Barriales-Villa, Juan R Gimeno-Blanes, Michael Arad, Pablo García-Pavía, Lorenzo Monserrat
BACKGROUND: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death. OBJECTIVES: The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies...
December 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27900617/new-and-evolving-concepts-regarding-the-prognosis-and-treatment-of-cardiac-amyloidosis
#2
REVIEW
Stefano Perlini, Roberta Mussinelli, Francesco Salinaro
Systemic amyloidoses are rare and proteiform diseases, caused by extracellular accumulation of insoluble misfolded fibrillar proteins. Prognosis is dictated by cardiac involvement, which is especially frequent in light chain (AL) and in transthyretin variants (ATTR, both mutated, (ATTRm), and wild-type, (ATTRwt)). Recently, ATTRwt has emerged as a potentially relevant cause of a heart failure with preserved ejection fraction (HFpEF). Cardiac amyloidosis is an archetypal example of restrictive cardiomyopathy, with signs and symptoms of global heart failure and diastolic dysfunction...
November 29, 2016: Current Heart Failure Reports
https://www.readbyqxmd.com/read/27895589/amino-acid-changes-at-arginine-204-of-troponin-i-result-in-increased-calcium-sensitivity-of-force-development
#3
Susan Nguyen, Rylie Siu, Shannamar Dewey, Ziyou Cui, Aldrin V Gomes
Mutations in human cardiac troponin I (cTnI) have been associated with restrictive, dilated, and hypertrophic cardiomyopathies. The most commonly occurring residue on cTnI associated with familial hypertrophic cardiomyopathy (FHC) is arginine (R), which is also the most common residue at which multiple mutations occur. Two FHC mutations are known to occur at cTnI arginine 204, R204C and R204H, and both are associated with poor clinical prognosis. The R204H mutation has also been associated with restrictive cardiomyopathy (RCM)...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/27886792/diagnosis-and-management-of-endomyocardial-fibrosis
#4
REVIEW
Andrea Beaton, Ana Olga Mocumbi
Endomyocardial fibrosis (EMF) remains an important cause of restrictive cardiomyopathy worldwide. Patients cluster in specific geographic locations and are almost universally living in extreme poverty. Specific etiology remains elusive and is likely multifactorial. Untreated EMF has a very poor prognosis. Medical management can mitigate symptoms for a time but has no curative benefit. Early surgical interventions may improve survival but are not readily available in most EMF-endemic regions. Increased awareness, advocacy, and research are needed to further understand this neglected tropical cardiomyopathy and to improve survival of those affected...
February 2017: Cardiology Clinics
https://www.readbyqxmd.com/read/27884680/caloric-restriction-ameliorates-cardiomyopathy-in-animal-model-of-diabetes
#5
Keren Cohen, Maayan Waldman, Nader G Abraham, Michal Laniado-Schwartzman, Danny Gurfield, Dan Aravot, Michael Arad, Edith Hochhauser
BACKGROUND: The db/db mouse is an animal model of diabetes in which leptin receptor activity is deficient resulting accelerated cardiomyopathy when exposed to angiotensin (AT). Toll-like receptors 4 and 2 (TLR4, TLR2) are pattern recognition receptors, that recognize pathogen-associated molecular patterns and exacerbate and release inflammatory cytokines. Fetuin A (Fet A) is a fatty acid carrier which affects inflammation and insulin resistance in obese humans and animals through TLRs...
November 21, 2016: Experimental Cell Research
https://www.readbyqxmd.com/read/27884629/urgent-listing-exceptions-and-outcomes-in-pediatric-heart-transplantation-comparison-to-standard-criteria-patients
#6
Ryan R Davies, Michael A McCulloch, Shylah Haldeman, Samuel S Gidding, Christian Pizarro
BACKGROUND: United Network for Organ Sharing (UNOS) policy enables listing exceptions to avoid penalizing patients with waitlist mortality not captured by standard criteria. Outcomes among patients listed by exception have not been analyzed. METHODS: We performed a retrospective analysis of pediatric (≤17 years of age, n = 4,706) listings (2006 to 2015) for primary, isolated heart transplantation within the UNOS data set, assessing Status 1A exception (n = 211, 4...
October 1, 2016: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/27884252/differentiation-of-constriction-and-restriction-complex-cardiovascular-hemodynamics
#7
REVIEW
Jeffrey B Geske, Nandan S Anavekar, Rick A Nishimura, Jae K Oh, Bernard J Gersh
Differentiation of constrictive pericarditis (CP) from restrictive cardiomyopathy (RCM) is a complex and often challenging process. Because CP is a potentially curable cause of heart failure and therapeutic options for RCM are limited, distinction of these 2 conditions is critical. Although different in regard to etiology, prognosis, and treatment, CP and RCM share a common clinical presentation of predominantly right-sided heart failure, in the absence of significant left ventricular systolic dysfunction or valve disease, due to impaired ventricular diastolic filling...
November 29, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27883350/loeffler-endocarditis-in-young-woman-a-case-report
#8
Natalia Y Osovska, Natalia V Kuzminova, Irina I Knyazkova
Loeffler endocarditis is a rare acquired endocardial and myocardial disease characterized by a sharp decrease in the compliance of either or both ventricles with an acute diastolic dysfunction and massive mural thrombosis. This disease is presented in the classification of cardiomyopathies and is a variant of restrictive cardiomyopathy. Today Loeffler endocarditis is considered as a manifestation of hypereosinophilic syndrome with predominant heart involvement. The life-time diagnosis of myocardial injury due to eosinophilic infiltration is rare, or it is diagnosed at the stage of necrotizing endomyocarditis, when the treatment is no longer effective...
November 25, 2016: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/27879346/the-zebrafish-frozen-mutant-is-a-model-for-human-myopathy-associated-with-mutation-of-the-unconventional-myosin-myo18b
#9
Ritika Gurung, Yosuke Ono, Sarah Baxendale, Samantha Lin Chiou Lee, Steven Moore, Meredith Calvert, Philip W Ingham
MYOSIN 18B is an unconventional myosin that has been implicated in tumour progression in humans. In addition, loss-of-function mutations of the MYO18B gene have recently been identified in several patients exhibiting symptoms of nemaline myopathy. In mouse, mutation of Myo18B results in early developmental arrest associated with cardiomyopathy, precluding analysis of its effects on skeletal muscle development. The zebrafish, frozen (fro) mutant was identified as one of a group of immotile mutants in the 1996 Tübingen genetic screen...
November 22, 2016: Genetics
https://www.readbyqxmd.com/read/27878699/differentiation-of-light-chain-cardiac-amyloidosis-from-hypertrophic-cardiomyopathy-using-myocardial-mechanical-parameters-by-velocity-vector-imaging-echocardiography
#10
Lu Zhang, Xiao Zhou, Jing Wang, Yang Mu, Bohan Liu, Wenqing Lv, Ye Wang, Hongwei Liu, Hongbin Liu, Guang Zhi
We aimed to evaluate the diagnostic efficacy of layered velocity vector imaging (VVI)-derived left ventricular (LV) mechanical parameters in the differential diagnosis of primary light-chain cardiac amyloidosis (AL-CA) and hypertrophic cardiomyopathy (HCM). We recruited 35 subjects with histologically-diagnosed AL-CA, 35 subjects with HCM, and 30 age-matched healthy controls. We used conventional echocardiography and electrocardiogram to evaluate general heart function and electrophysiology properties. Furthermore, we applied two-dimensional VVI echocardiography to assess the layered mechanical parameters during systole, including endocardial and epicardial longitudinal strain (ENDO and EPI LSsys), circumferential strain (CSsys), radial strain (RSsys), rotation (ROT) and twist (TWI), in different LV walls and levels...
November 23, 2016: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/27878632/utility-of-echocardiography-in-the-assessment-of-left-ventricular-diastolic-function-and-restrictive-physiology-in-children-and-young-adults-with-restrictive-cardiomyopathy-a-comparative-echocardiography-catheterization-study
#11
Thomas D Ryan, Peace C Madueme, John L Jefferies, Erik C Michelfelder, Jeffrey A Towbin, Jessica G Woo, Rashmi D Sahay, Eileen C King, Roberta Brown, Ryan A Moore, Michelle A Grenier, Bryan H Goldstein
The aim of the study is to determine the utility of echocardiography in the assessment of diastolic function in children and young adults with restrictive cardiomyopathy (RCM). RCM is a rare disease with high mortality requiring frequent surveillance. Accurate, noninvasive echocardiographic measures of diastolic function may reduce the need for invasive catheterization. Single-center, prospective, observational study of pediatric and young adult RCM patients undergoing assessment of diastolic parameters by simultaneous transthoracic echocardiogram (TTE) and invasive catheterization...
November 23, 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/27872470/hereditary-amyloidosis-with-recurrent-lung-infiltrates
#12
Alberto E Revelo, Crischelle Magaspi, George Maguire, Wilbert S Aronow
BACKGROUND Amyloidosis is a protein conformational disorder characterized by extracellular deposition of amyloid fibrils in extracellular tissue. Lung involvement is most commonly caused by secondary AL amyloidosis. The familial autosomal-dominant senile transthyretin (ATTR) disease manifests mainly as polyneuropathy and restrictive cardiomyopathy denoting the name familial amyloidotic polyneuropathy (FAP). Rarely, this form manifests with clinical and radiologically relevant respiratory tract symptoms and lung involvement...
November 22, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27869075/-cell-therapies-for-cardiopathies-the-shift-of-paradigms
#13
Jean-Thomas Vilquin, Jessy Etienne
Heart failure is a major concern for public health systems, and several approaches of cellular therapy are being investigated with the goal of improving the function of these failing hearts. Many cell types have been used (skeletal myoblasts, hematopoietic, endothelial or mesenchymal progenitors, cardiac cells…), most often in the indication of post-ischemic heart failure rather than in the indication of genetic dilated cardiomyopathy. It is easier, indeed, to target a restricted area than the whole myocardium...
November 2016: Médecine Sciences: M/S
https://www.readbyqxmd.com/read/27867529/coexistence-of-apical-hypertrophic-cardiomyopathy-and-endomyocardial-fibrosis-with-calcification-diagnosis-using-multimodality-imaging
#14
Lakshmi Muthukumar, M Fuad Jan, Joseph Whitnah, A Jamil Tajik
A 48-year-old man from West Africa was evaluated for dyspnea. Echocardiography showed an echolucent mass at the left ventricular apex surrounded by a dense ridge of tissue, suggesting endomyocardial fibrosis (EMF). Doppler echocardiography showed restrictive hemodynamics and intramyocardial coronary blood flow at the hypertrophied apex, suggesting apical hypertrophic cardiomyopathy (ApHCM) with calcified thrombus. Cardiac magnetic resonance imaging showed a thickened myocardium with apical cavity obliteration and endomyocardial calcification, and gadolinium contrast demonstrated marked bright subendocardial and diffuse patchy intramyocardial hyperenhancement in the hypertrophied apical wall segment, confirming coexistence of EMF and ApHCM...
December 2016: ESC Heart Failure
https://www.readbyqxmd.com/read/27864249/positive-predictive-value-of-cardiovascular-diagnoses-in-the-danish-national-patient-registry-a-validation-study
#15
Jens Sundbøll, Kasper Adelborg, Troels Munch, Trine Frøslev, Henrik Toft Sørensen, Hans Erik Bøtker, Morten Schmidt
OBJECTIVE: The majority of cardiovascular diagnoses in the Danish National Patient Registry (DNPR) remain to be validated despite extensive use in epidemiological research. We therefore examined the positive predictive value (PPV) of cardiovascular diagnoses in the DNPR. DESIGN: Population-based validation study. SETTING: 1 university hospital and 2 regional hospitals in the Central Denmark Region, 2010-2012. PARTICIPANTS: For each cardiovascular diagnosis, up to 100 patients from participating hospitals were randomly sampled during the study period using the DNPR...
November 18, 2016: BMJ Open
https://www.readbyqxmd.com/read/27843566/exercise-restrictions-trigger-psychological-difficulty-in-active-and-athletic-adults-with-hypertrophic-cardiomyopathy
#16
Rebecca C Luiten, Kelly Ormond, Lisa Post, Irfan M Asif, Matthew T Wheeler, Colleen Caleshu
OBJECTIVE: We examined the extent and nature of the psychological difficulty experienced by athletic adults with hypertrophic cardiomyopathy (HCM), correlates of that difficulty and coping mechanisms. METHODS: A survey assessed athletic history and psychological impact of exercise restrictions. LASSO penalised linear regression identified factors associated with psychological difficulty. Semistructured interviews provided deeper insight into the nature and origins of psychological difficulty...
2016: Open Heart
https://www.readbyqxmd.com/read/27837283/restrictive-cardiomyopathy-delayed-occurrence-after-radiotherapy-of-breast-cancer
#17
Barbara Bellmann, Brunilda Alushi, Boris Bigalke, Ulf Landmesser, Andreas J Morguet
A 74-year-old female patient was referred to our department in 2015 with dyspnea, cough and dysphagia. She had been diagnosed with adenocarcinoma of the right breast in 1986 and underwent mastectomy. When she presented with a local recurrence in 1988, she was receiving high-voltage radiation therapy. Transthoracic echocardiography and magnetic resonance imaging revealed tricuspid regurgitation grade III and unclear right heart failure with a massively dilated right atrium. Coronary heart disease could be ruled out...
November 11, 2016: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/27828851/a-case-report-of-a-giant-right-ventricular-outflow-tract-in-a-young-man
#18
Die Hu, Dao-Quan Peng, Xiang-Ping Li, Bi-Lian Yu
INTRODUCTION: Localized pericardium restriction is a rare disease and likely to be unrecognized owing to the atypical manifestation, even after diagnostic avenues are exhausted. Recognizing the red flags of the disease could timely spark a preliminary suspicion of the disease and thus contribute to the early application of relevant examinations. CASE PRESENTATION: We will here report a case of a 21-year-old young man with a giant right ventricular outflow tract...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27813212/insights-into-mildly-dilated-cardiomyopathy-temporal-evolution-and-long-term-prognosis
#19
Marta Gigli, Davide Stolfo, Marco Merlo, Giulia Barbati, Federica Ramani, Francesca Brun, Bruno Pinamonti, Gianfranco Sinagra
AIMS: Mildly dilated cardiomyopathy (MDCM) has been proposed as a subtype of dilated cardiomyopathy (DCM) characterized by systolic dysfunction in the absence of significant LV dilatation. Few data on the characteristics and outcomes of MDCM patients are available. We sought to assess the main features and the long-term natural history of MDCM. METHODS AND RESULTS: From 1988 to 2010 we analysed all DCM patients consecutively evaluated at our Institution. MDCM was defined as LVEF <45% and LV end-diastolic volume index (LVEDVI) ≤70 mL/m(2) in women and ≤89 mL/m(2) in men...
November 4, 2016: European Journal of Heart Failure
https://www.readbyqxmd.com/read/27806176/abrupt-onset-of-refractory-heart-failure-associated-with-light-chain-amyloidosis-in-hypertrophic-cardiomyopathy
#20
Benedetta Tomberli, Francesco Cappelli, Federico Perfetto, Iacopo Olivotto
Importance: The natural history of hypertrophic cardiomyopathy (HCM) is complex and may include progressive heart failure and severe left ventricular dysfunction. When disease progression is abrupt, however, other coexisting diseases should be ruled out. This may be difficult in the case of amyloidosis, which classically mimics HCM. Results: We present an example of severe clinical deterioration in a patient with HCM due to superimposed amyloid light-chain amyloidosis...
November 2, 2016: JAMA Cardiology
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