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restrictive cardiomyopathy

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https://www.readbyqxmd.com/read/29313818/long-term-mortality-in-patients-with-severe-secondary-mitral-regurgitation-and-normal-left-ventricular-ejection-fraction-interventional-perspective
#1
Amr F Barakat, Mohammad Q Raza, Kinjal Banerjee, Rayji S Tsutsui, Amgad Mentias, Karim Abdur Rehman, Badal Thakkar, Sajjad Gul, Raquib Faruqui, Amar Krishnaswamy, Leonardo L Rodriguez, Richard Grimm, Brian Griffin, Emin Murat Tuzcu, Samir R Kapadia
AIMS: Patients with severe secondary mitral regurgitation (MR) and normal ejection fraction are being excluded from clinical trials evaluating transcatheter mitral devices. We sought to evaluate the long-term mortality with medical management alone in this patient population. METHODS AND RESULTS: We retrospectively evaluated patients diagnosed with ≥3+ mitral MR at our institution over 15 years. Only patients with ejection fraction ≥ 60% were included in the study...
January 9, 2018: EuroIntervention
https://www.readbyqxmd.com/read/29302944/restrictive-mitral-annuloplasty-with-or-without-papillary-muscle-approximation-for-functional-mitral-regurgitation
#2
Yusuke Misumi, Takafumi Masai, Koichi Toda, Teruya Nakamura, Shigeru Miyagawa, Yasushi Yoshikawa, Satsuki Fukushima, Shunsuke Saito, Keitaro Domae, Satoshi Kainuma, Takayoshi Ueno, Toru Kuratani, Takashi Daimon, Yoshiki Sawa
BACKGROUND: The impact of adding papillary muscle approximation (PMA) to restrictive mitral annuloplasty (RMA) on postoperative left ventricular (LV) function is unknown. Changes in LV function parameters and clinical outcome were evaluated following RMA with and without PMA in patients with clinically relevant functional mitral regurgitation (FMR). METHODS: A total of 176 patients with advanced cardiomyopathy underwent RMA either with (n = 59) or without (n = 117) PMA...
July 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/29261619/discordant-findings-on-18f-naf-and-99mtc-hdp-bone-scans-in-a-patient-with-attr-cardiac-amyloidosis
#3
Quinn K T Ng, Pooja Sethi, Tara A Saunders, Miguel Hernandez Pampaloni, Robert R Flavell
Cardiac amyloidosis is an important cause of restrictive cardiomyopathy and congestive heart failure. Bone scintigraphy with [Tc]hydroxymethylene diphosphonate (Tc-HDP) and [F]sodium fluoride (F-NaF) have been investigated in the noninvasive diagnosis of transthyretin (ATTR)-related cardiac amyloidosis. We present a case of a 76-year-old man with metastatic prostate cancer who underwent Tc-HDP bone scintigraphy with an incidental finding of diffuse left ventricular abnormal uptake suggesting ATTR cardiac amyloidosis...
December 19, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/29238322/acute-ischemic-pediatric-stroke-management-an-extended-window-for-mechanical-thrombectomy
#4
Ashish Kulhari, Elizabeth Dorn, Jonathan Pace, Vilakshan Alambyan, Stephanie Chen, Osmond C Wu, Macym Rizvi, Anthony Hammond, Ciro Ramos-Estebanez
Ischemic stroke is a rare condition to afflict the pediatric population. Congenital cardiomyopathy represents one of several possible etiologies in children. We report a 9-year-old boy who developed right middle cerebral artery stroke secondary to primary restrictive cardiomyopathy. In the absence of pediatric guidelines, the child met adult criteria for mechanical thrombectomy given the small core infarct and large penumbra. The literature suggests children may benefit from mechanical thrombectomy in carefully selected cases...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29212899/novel-mutation-in-flnc-filamin-c-causes-familial-restrictive-cardiomyopathy
#5
Nathan R Tucker, Micheal A McLellan, Dongjian Hu, Jiangchuan Ye, Victoria A Parsons, Robert W Mills, Sebastian Clauss, Elena Dolmatova, Marisa A Shea, David J Milan, Nandita S Scott, Mark Lindsay, Steven A Lubitz, Ibrahim J Domian, James R Stone, Honghuang Lin, Patrick T Ellinor
BACKGROUND: Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy characterized by impaired diastolic ventricular function resulting in a poor clinical prognosis. Rarely, heritable forms of RCM have been reported, and mutations underlying RCM have been identified in genes that govern the contractile function of the cardiomyocytes. METHODS AND RESULTS: We evaluated 8 family members across 4 generations by history, physical examination, electrocardiography, and echocardiography...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29203562/impaired-protein-quality-control-during-left-ventricular-remodeling-in-mice-with-cardiac-restricted-overexpression-of-tumor-necrosis-factor
#6
Justin Hartupee, Gabor D Szalai, Wei Wang, Xiucui Ma, Abhinav Diwan, Douglas L Mann
BACKGROUND: Sustained inflammation in the heart is sufficient to provoke left ventricular dysfunction and left ventricular remodeling. Although inflammation has been linked to many of the biological changes responsible for adverse left ventricular remodeling, the relationship between inflammation and protein quality control in the heart is not well understood. METHODS AND RESULTS: To study the relationship between chronic inflammation and protein quality control, we used a mouse model of dilated cardiomyopathy driven by cardiac restricted overexpression of TNF (tumor necrosis factor; Myh6-sTNF)...
December 2017: Circulation. Heart Failure
https://www.readbyqxmd.com/read/29191297/verification-of-heart-disease-implications-for-a-new-heart-transplantation-allocation-system
#7
Pejman Raeisi-Giglou, E Rene Rodriguez, Eugene H Blackstone, Carmela D Tan, Eileen M Hsich
OBJECTIVES: This study sought to determine the accuracy of the pre-transplantation clinical diagnosis of heart disease in the United Network for Organ Sharing (UNOS) database. BACKGROUND: Because survival on the heart transplantation waitlist depends on underlying heart disease, a new allocation system will include the type of heart disease. Accuracy of the pre-transplantation clinical diagnosis and the effect of misclassification are unknown. METHODS: We included all adults who received transplants at our center between January 2009 to December 2015...
December 2017: JACC. Heart Failure
https://www.readbyqxmd.com/read/29190034/the-role-of-%C3%AE-b-crystallin-in-skeletal-and-cardiac-muscle-tissues
#8
REVIEW
Ivan Dimauro, Ambra Antonioni, Neri Mercatelli, Daniela Caporossi
All organisms and cells respond to various stress conditions such as environmental, metabolic, or pathophysiological stress by generally upregulating, among others, the expression and/or activation of a group of proteins called heat shock proteins (HSPs). Among the HSPs, special attention has been devoted to the mutations affecting the function of the αB-crystallin (HSPB5), a small heat shock protein (sHsp) playing a critical role in the modulation of several cellular processes related to survival and stress recovery, such as protein degradation, cytoskeletal stabilization, and apoptosis...
November 30, 2017: Cell Stress & Chaperones
https://www.readbyqxmd.com/read/29188317/genetic-testing-in-pediatric-cardiomyopathy
#9
Chalani D Ellepola, Linda M Knight, Peter Fischbach, Shriprasad R Deshpande
Genetic testing is recommended in patients with dilated cardiomyopathy (DCM); however, limited studies demonstrate high yields of genetic testing in non-hypertrophic (HCM) patients. Furthermore, there is sparse genotype-phenotype data in pediatric DCM patients. We performed a retrospective review of 70 consecutive probands with cardiomyopathy (non-HCM) who underwent genetic evaluation. Mean age at presentation was 5.48 years. Echocardiography revealed mean ejection fraction of 32.4%. The LVEDd z score ranged from - 5...
November 29, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/29187041/restrictive-cardiomyopathy-or-constrictive-pericarditis-an-unresolved-conundrum
#10
Gregory Ho, Ed Peng, Antony Hermuzi, Asif Hasan
Cardiomyopathy may have a variety of causes and may lead to significant morbidity. Often, there is no "perfect" treatment. New investigative techniques may add insight but retain the possibility of uncertainty. The distinction between restrictive cardiomyopathy and pericardial constriction may be challenging, particularly when considering the incidence of these entities. This distinction may significantly impact patient management and this is becoming increasingly important in the context of donor organ austerity...
January 1, 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/29181265/off-label-use-of-direct-oral-anticoagulants-for-left-ventricular-thrombus-is-it-appropriate
#11
George Degheim, Abeer Berry, Marcel Zughaib
A 57 year old gentleman with a history of non-ischemic cardiomyopathy and paroxysmal atrial fibrillation presented with worsening lower extremity edema and dyspnea on exertion. He had been compliant with his medications including rivaroxaban (Xarelto) for atrial fibrillation that he takes with the evening meal daily. His echocardiogram showed an ejection fraction of 10-15% and a new left ventricle (LV) apical thrombus. During his hospital stay, he developed right sided weakness. Magnetic Resonance Imaging showed a subacute infarct involving the left parietal lobe...
2017: American Journal of Cardiovascular Disease
https://www.readbyqxmd.com/read/29176140/role-of-whole-exome-sequencing-in-phenotype-classification-and-clinical-treatment-of-pediatric-restrictive-cardiomyopathy
#12
Wen-Hong Ding, Ling Han, Yan-Yan Xiao, Ying Mo, Jing Yang, Xiao-Fang Wang, Mei Jin
BACKGROUND: Restrictive cardiomyopathy (RCM) is the least common cardiomyopathy in which the walls are rigid and the heart is restricted from stretching and filling properly. Cardiac troponin I (cTnI) mutation-caused myofibril Ca2+ hypersensitivity has been shown to be associated with impaired diastolic function. This study aimed to investigate the linkage between the genotype and clinical therapy of RCM. METHODS: Five sporadic pediatric RCM patients confirmed by echocardiography were enrolled in this study...
December 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/29158215/risk-stratification-in-arrhythmogenic-right-ventricular-cardiomyopathy
#13
REVIEW
Hugh Calkins, Domenico Corrado, Frank Marcus
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by ventricular arrhythmias and an increased risk of sudden cardiac death. Although structural abnormalities of the right ventricle predominate, it is well recognized that left ventricular involvement is common, particularly in advanced disease, and that left-dominant forms occur. The pathological characteristic of ARVC is myocyte loss with fibrofatty replacement. Since the first detailed clinical description of the disorder in 1982, significant advances have been made in understanding this disease...
November 21, 2017: Circulation
https://www.readbyqxmd.com/read/29148123/donohue-syndrome-a-review-of-literature-case-series-and-anesthetic-considerations
#14
REVIEW
Alana Kirkwood, Grant Stuart, Louise Harding
BACKGROUND: Donohue syndrome is a rare autosomal recessive disorder of insulin resistance, causing a functional defect in insulin receptor function, and affecting the ability of the insulin to bind the receptor. Features include severe hyperinsulinism and fasting hypoglycemia, along with severe failure to thrive despite feeding. An accelerated fasting state results in muscle wasting, decreased subcutaneous fat, and an excess of thick skin. A reduced thoracic diameter is accentuated by increased abdominal distension, which impacts on respiratory reserve...
November 17, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/29142812/left-ventricle-relative-apical-sparing-in-cardiac-amyloidosis
#15
Marianna Nardozza, Elisabetta Chiodi, Donato Mele
Amyloidosis is a disease characterized by the extracellular deposition of the protein amyloid. It is a multiorgan disease, and cardiac involvement is not uncommon, generally in the form of a restrictive cardiomyopathy. Typical aspects of cardiac amyloidosis have been described at echocardiography and magnetic resonance imaging (MRI). In particular, the relative apical sparing at two-dimensional speckle-tracking echocardiography has been reported to be specific for cardiac amyloidosis. In our case, we report for the first time that this echocardiographic sign is related to lack of hyperenhancement at late gadolinium enhancement imaging in cardiac MRI...
October 2017: Journal of Cardiovascular Echography
https://www.readbyqxmd.com/read/29078120/adventitial-tertiary-lymphoid-organ-classification-in-human-atherosclerosis
#16
Mohammadreza Akhavanpoor, Christian A Gleissner, Hamidreza Akhavanpoor, Felix Lasitschka, Andreas O Doesch, Hugo A Katus, Christian Erbel
BACKGROUND: Atherosclerosis is a chronic inflammatory disease of the arterial wall. Adjacent to lamina intima lesion progression, a cellular compound develops in the lamina adventitia, defined as tertiary lymphoid organs (TLO) in mice. But in human system, it remains unknown whether these adventitial cellular accumulations represent these highly organized immunological structures. PATIENTS AND METHODS: In this study, we investigated whether the adventitial cellular compounds represent TLOs in 72 human coronary artery samples by immunoenzyme staining...
September 7, 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/29071521/cmr-assessment-and-clinical-outcomes-of-hypertrophic-cardiomyopathy-with-or-without-ventricular-remodeling-in-the-end-stage-phase
#17
Sainan Cheng, Yeon Hyeon Choe, Hideki Ota, Chen Cui, Gang Yin, Minjie Lu, Lu Li, Xiuyu Chen, Sanjay K Prasad, Shihua Zhao
End-stage phase of hypertrophic cardiomyopathy (ES-HCM) is a recognized part of HCM disease spectrum. Information on cardiac magnetic resonance (CMR) studies for ES-HCM especially for those without ventricular remodeling has been limited. We aimed to evaluate the morpho-functional and tissue features of ES-HCM with or without ventricular remodeling and to explore CMR prognostic value in these patients. We analysed CMR scans of sixty-three ES-HCM patients and divided them into those with ventricular dilatation (D-ES, n = 41) and those with normal ventricular size (N-ES, n = 22)...
October 25, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/29068766/the-role-of-autophagy-in-the-heart
#18
Sebastiano Sciarretta, Yasuhiro Maejima, Daniela Zablocki, Junichi Sadoshima
Autophagy is an evolutionarily conserved mechanism by which cytoplasmic elements are degraded intracellularly. Autophagy has also emerged as a major regulator of cardiac homeostasis and function. Autophagy preserves cardiac structure and function under baseline conditions and is activated during stress, limiting damage under most conditions. It reduces injury and preserves cardiac function during ischemia. It also reduces chronic ischemic remodeling and mediates the cardiac adaptation to pressure overload by restricting misfolded protein accumulation, mitochondrial dysfunction, and oxidative stress...
October 25, 2017: Annual Review of Physiology
https://www.readbyqxmd.com/read/29067653/clinical-manifestations-and-overall-management-strategies-for-duchenne-muscular-dystrophy
#19
Takeshi Tsuda
Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder that causes progressive weakness and wasting of skeletal muscular and myocardium in boys due to mutation of dystrophin. The structural integrity of each individual skeletal and cardiac myocyte is significantly compromised upon physical stress due to the absence of dystrophin. The progressive destruction of systemic musculature and myocardium causes affected patients to develop multiple organ disabilities, including loss of ambulation, physical immobility, neuromuscular scoliosis, joint contracture, restrictive lung disease, obstructive sleep apnea, and cardiomyopathy...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29047356/non-syndromic-cardiac-progeria-in-a-patient-with-the-rare-pathogenic-p-asp300asn-variant-in-the-lmna-gene
#20
Ali J Marian
BACKGROUND: Mutations in LMNA gene, encoding Lamin A/C, cause a diverse array of phenotypes, collectively referred to as laminopathies. The most common manifestation is dilated cardiomyopathy (DCM), occurring in conjunction with variable skeletal muscle involvement but without involvement of the coronary arteries. Much less commonly, LMNA mutations cause progeroid syndromes, whereby an early-onset coronary artery disease (CAD) is the hallmark of the disease. We report a hitherto unreported compound cardiac phenotype, dubbed as "non-syndromic cardiac progeria", in a young patient who carried a rare pathogenic variant in the LMNA gene and developed progressive degeneration of various cardiac structures, as seen in the elderly...
October 18, 2017: BMC Medical Genetics
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