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idiopathic cardiomyopathy

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https://www.readbyqxmd.com/read/28099117/casz1-loss-of-function-mutation-contributes-to-familial-dilated-cardiomyopathy
#1
Xing-Biao Qiu, Xin-Kai Qu, Ruo-Gu Li, Hua Liu, Ying-Jia Xu, Min Zhang, Hong-Yu Shi, Xu-Min Hou, Xu Liu, Fang Yuan, Yu-Min Sun, Jun Wang, Ri-Tai Huang, Song Xue, Yi-Qing Yang
BACKGROUND: The zinc finger transcription factor CASZ1 plays a key role in cardiac development and postnatal adaptation, and in mice, deletion of the CASZ1 gene leads to dilated cardiomyopathy (DCM). However, in humans whether genetically defective CASZ1 contributes to DCM remains unclear. METHODS: The coding exons and splicing junction sites of the CASZ1 gene were sequenced in 138 unrelated patients with idiopathic DCM. The available family members of the index patient harboring an identified CASZ1 mutation and 200 unrelated, ethnically matched healthy individuals used as controls were genotyped for CASZ1...
January 18, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28098235/molecular-characterization-of-pediatric-restrictive-cardiomyopathy-from-integrative-genomics
#2
Tara N Rindler, Robert B Hinton, Nathan Salomonis, Stephanie M Ware
Pediatric restrictive cardiomyopathy (RCM) is a genetically heterogeneous heart disease with limited therapeutic options. RCM cases are largely idiopathic; however, even within families with a known genetic cause for cardiomyopathy, there is striking variability in disease severity. Although accumulating evidence implicates both gene expression and alternative splicing in development of dilated cardiomyopathy (DCM), there have been no detailed molecular characterizations of underlying pathways dysregulated in RCM...
January 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28097728/dabigatran-etexilate-in-a-vitamin-k-antagonist-non-responder-patient-during-heartware-hvad-support
#3
Andrea Baronetto, Paolo Centofanti, Matteo Attisani, Massimo Boffini, Davide Ricci, Erika Simonato, Mauro Rinaldi
We report a case of a patient supported with a HeartWare left ventricular assist device for idiopathic cardiomyopathy who was resistance to vitamin-K antagonists three months after implantation. The patient initially started low-molecular-weight heparin therapy and then, after the onset of an ischemic stroke, switched to dabigatran etexilate (DE). The patient had progressive recovery of cardiac function for which the device was explanted. No thrombotic or bleeding events occurred during DE therapy.
January 17, 2017: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/28097671/junctional-ectopic-tachycardia-localization-and-procedural-approach-using-cryoablation
#4
Alyson R Pierick, Ian H Law, Jennifer R Muldonado, Nicholas H VON Bergen
BACKGROUND: Idiopathic junctional ectopic tachycardia (JET) may still be difficult to control with antiarrhythmic therapy. Transcatheter ablation can be challenging and may be associated with a high risk of unintended AV block. The objective of this manuscript is to report the procedural technique, the location of the successful ablation and the procedural characteristics while utilizing 3D mapping for cryoablation of JET. METHODS: A retrospective analysis was performed on all patients who had undergone cryothermal ablation for the treatment of JET at a single center...
January 18, 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/28087308/myocardial-inotropic-reserve-an-old-twist-that-constitutes-a-reliable-index-in-the-modern-era-of-heart-failure
#5
REVIEW
Fragkiskos Parthenakis, Spyridon Maragkoudakis, Maria Marketou, Alexandros Patrianakos, Evaggelos Zacharis, Panos Vardas
Current national and international guidelines, including those of the European Society of Cardiology, recognize that the assessment of prognosis should be a part of the standard management for patients with chronic heart failure (CHF). However, these same guidelines recognize the inherent difficulty of this process. A variety of factors contribute to this difficulty, including the varying etiology, frequent co-morbidity and, perhaps most importantly, huge inter-individual variability in the disease progression and outcome...
November 22, 2016: Hellenic Journal of Cardiology: HJC, Hellēnikē Kardiologikē Epitheōrēsē
https://www.readbyqxmd.com/read/28074806/an-unusual-cause-of-postpartum-heart-failure
#6
Ibrahim Khaddash, Amer Hawatmeh, Zaid Altheeb, Aiman Hamdan, Fayez Shamoon
Peripartum cardiomyopathy is a weakness of the heart muscle. It is an idiopathic cardiomyopathy that presents with heart failure secondary to left ventricular systolic dysfunction toward the end of pregnancy or in the months after delivery, in the absence of any other cause of heart failure. It is a rare condition that can carry mild or severe symptoms.
January 2017: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/28035124/your-epoch-is-not-for-trying-it-s-for-living-and-for-dying
#7
Leonid P Churilov
The article is devoted to biographies of three Russian physicians of the Silver Age (a period in the History of Russian culture between 1890 and 1917). They made early, significant and internationally recognized contribution into medical science and became eponymous, although social disasters of the twentieth century caused deep impact on their subsequent lives and careers, so their role was shadowed from global medical community. The article analyzes biographies and academic achievements of A-F.K. Siewert (aka: Zivert, Ziwert, von Siewert) (1872-1922), known for first description of the hereditary dyskinesia of cilia (as a triad of: situs inversus of the viscera, abnormal frontal sinuses producing sinusitis and bronchiectasis); S...
December 2016: Psychiatria Danubina
https://www.readbyqxmd.com/read/28013418/left-ventricular-reverse-remodeling-in-dilated-cardiomyopathy-maintained-subclinical-myocardial-systolic-and-diastolic-dysfunction
#8
Sandra Amorim, João Rodrigues, Manuel Campelo, Brenda Moura, Elisabete Martins, Filipe Macedo, J Silva-Cardoso, M Júlia Maciel
In idiopathic dilated cardiomyopathy (DCM), myocardial deformational parameters and their relationships remain incompletely characterized. We measured those parameters in patients with DCM, during left ventricular reverse remodeling (LVRR). Prospective study of 50 DCM patients (in sinus rhythm), with left ventricular ejection fraction (EF) <40%. LVRR was defined as an increase of ten units of EF and decrease of diastolic left ventricular diameter (LVDD) in the absence of resynchronization therapy. Performed morphological analysis, myocardial performance quantification (LV and RV Tei indexes) and LV averaged peak systolic longitudinal strain (SSR long) and circumferential strain (SSR circ)...
December 24, 2016: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/28004791/free-triiodothyronine-level-correlates-with-myocardial-injury-and-prognosis-in-idiopathic-dilated-cardiomyopathy-evidence-from-cardiac-mri-and-spect-pet-imaging
#9
Wenyao Wang, Haixia Guan, Wei Fang, Kuo Zhang, A Martin Gerdes, Giorgio Iervasi, Yi-Da Tang
Thyroid dysfunction is associated with poor prognosis in heart failure, but theories of mechanisms are mainly based on animal experiments, not on human level. We aimed to explore the relation between thyroid function and myocardial injuries in idiopathic dilated cardiomyopathy (IDCM) using cardiac magnetic resonance imaging (MRI), single-photon emission computed tomography (SPECT) and positron emission tomography (PET). Myocardial fibrosis was detected by late gadolinium enhancement (LGE) MRI, and myocardial perfusion/metabolism was evaluated by (99m)Tc-MIBI SPECT /(18)F-FDG PET imaging...
December 22, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27988039/comparison-of-patient-characteristics-and-course-of-hypertensive-hypokinetic-cardiomyopathy-versus-idiopathic-dilated-cardiomyopathy
#10
Marco Bobbo, Bruno Pinamonti, Marco Merlo, Davide Stolfo, Annamaria Iorio, Federica Ramani, Giulia Barbati, Cosimo Carriere, Laura Massa, Stefano Poli, Sara Scapol, Marta Gigli, Andrea Di Lenarda, Gianfranco Sinagra
Hypertensive hypokinetic cardiomyopathy (HHC) is defined by left ventricular (LV) systolic dysfunction with a history of systemic hypertension as the only possible cause. Although commonly encountered in clinical practice, its characterization and differences with true idiopathic dilated cardiomyopathy (IDC) are lacking. The aim of this study was to characterize the clinical instrumental features and the natural history of HHC. We analyzed the data of 4,191 patients referred to our center for newly diagnosed LV systolic dysfunction from 2005 to 2010...
February 1, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/27965028/two-de-novo-mutations-in-an-autistic-child-who-had-previously-undergone-transplantation-for-dilated-cardiomyopathy-the-importance-of-keeping-an-open-mind
#11
Umair Sajid, Bob Argiropoulos, Xing-Chang Wei, Jillian S Parboosingh, Ryan E Lamont, Aneal Khan, Steven C Greenway
We report the finding of 2 de novo mutations in an 8-year-old boy with developmental delay and autism who underwent heart transplantation at 1 year of age for idiopathic dilated cardiomyopathy. We identified a de novo microdeletion at chromosome 2p16.3 involving the neurexin-1 (NRXN1) gene and a de novo pathologic variant (Pro838Leu) in the myosin heavy chain 7 (MYH7) gene. This case emphasizes the importance of comprehensive genetic evaluation in patients with cardiomyopathy, particularly if they have extracardiac abnormalities, and the necessity of interpreting variants with attention to the phenotype...
September 26, 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/27909515/myocardial-biopsy-in-idiopathic%C3%A2-atrial-fibrillation-and-other-arrhythmias-nosological-diagnosis-clinical-and-morphological-parallels-and-treatment
#12
O V Blagova, A V Nedostup, E A Kogan, V A Sulimov, S A Abugov, A G Kupriyanova, V A Zaydenov, A E Donnikov, E V Zaklyazminskaya, E A Okisheva
BACKGROUND: The nosological nature of "idiopathic" arrhythmias and the effect of etiotropic and pathogenetic treatment are often unknown. METHODS AND RESULTS: 19 patients (42.6±11.3 years, 9 women) with atrial fibrillation (n = 16), supraventricular (n = 10) and ventricular (n = 4) premature beats, supraventricular (n = 2) and ventricular tachycardia (n = 1), left bundle branch block (n= 2), AV block (n = 2) without structural heart changes. Viruses were identified (polymerase chain reaction, PCR) along with measurement of anti-heart antibodies (AHA) and endomyocardial biopsy (EMB)...
June 2016: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/27890770/fibrosis-and-fibrotic-gene-expression-in-pediatric-and-adult-patients-with-idiopathic-dilated-cardiomyopathy
#13
Kathleen C Woulfe, Austine K Siomos, Hieu Nguyen, Megan SooHoo, Csaba Galambo, Brian L Stauffer, Carmen Sucharov, Shelley Miyamoto
BACKGROUND: Although fibrosis seems to be prognostic for adverse outcomes in adults with idiopathic dilated cardiomyopathy (IDC), little is known about the prevalence and development of fibrosis in pediatric IDC hearts. We hypothesized that there is less activation of fibrosis at a molecular level in pediatric IDC hearts than in failing adult hearts. METHODS AND RESULTS: Pediatric hearts were analyzed histologically to determine the prevalence of fibrosis. Left ventricular tissue from adult and pediatric IDC hearts and adult and pediatric nonfailing (NF) hearts were subjected to quantitative reverse-transcription polymerase chain reaction to study the expression of important mRNAs that affect fibrosis...
November 24, 2016: Journal of Cardiac Failure
https://www.readbyqxmd.com/read/27889554/familial-dilated-cardiomyopathy-a-multidisciplinary-entity-from-basic-screening-to-novel-circulating-biomarkers
#14
REVIEW
D de Gonzalo-Calvo, M Quezada, O Campuzano, A Perez-Serra, J Broncano, R Ayala, M Ramos, V Llorente-Cortes, S Blasco-Turrión, F J Morales, P Gonzalez, R Brugada, A Mangas, R Toro
Idiopathic dilated cardiomyopathy has become one of the most prevalent inherited cardiomyopathies over the past decades. Genetic screening of first-degree relatives has revealed that 30-50% of the cases have a familial origin. Similar to other heart diseases, familial dilated cardiomyopathy is characterized by a high genetic heterogeneity that complicates family studies. Cli'nical screening, 12-lead electrocardiogram and transthoracic echocardiogram are recommended for patients and first-degree family members...
February 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/27886618/massive-parallel-sequencing-questions-the-pathogenic-role-of-missense-variants-in-dilated-cardiomyopathy
#15
Martin G Dalin, Pär G Engström, Emil G Ivarsson, Per Unneberg, Sara Light, Maria Schaufelberger, Thomas Gilljam, Bert Andersson, Martin O Bergo
BACKGROUND: Germline genetic variants are an important cause of dilated cardiomyopathy (DCM). However, recent sequencing studies have revealed rare variants in DCM-associated genes also in individuals without known heart disease. In this study, we investigate variant prevalence and genotype-phenotype correlations in Swedish DCM patients, and compare their genetic variants to those detected in reference cohorts. METHODS AND RESULTS: We sequenced the coding regions of 41 DCM-associated genes in 176 unrelated patients with idiopathic DCM and found 102 protein-altering variants with an allele frequency of <0...
February 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/27871237/a-unique-association-of-arrhythmogenic-right-ventricular-dysplasia-and-acute-myocarditis-as-assessed-by-cardiac-mri-a-case-report
#16
Andrea Ponsiglione, Marta Puglia, Carmine Morisco, Luigi Barbuto, Antonio Rapacciuolo, Mario Santoro, Letizia Spinelli, Bruno Trimarco, Alberto Cuocolo, Massimo Imbriaco
BACKGROUND: Arrhythmogenic right ventricular dysplasia (ARVD), is a genetic disorder of the heart, which mainly involves the right ventricle. It is characterized by hypokinetic areas at the free wall of the right ventricle (RV) or both ventricles, where myocardium is replaced by fibrous or fatty tissue. ARVD is an important cause of ventricular arrhythmias in children and young adults. Although the transmission of the disease is based on hereditary, in young adults it may not show any symptoms...
November 21, 2016: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/27862767/dynamics-of-cerebral-blood-flow-in-patients-with-mild-non-ischaemic-heart-failure
#17
Christian D Erkelens, Haye H van der Wal, Bauke M de Jong, Jan-Willem Elting, Remco Renken, Marleen Gerritsen, Peter Jan van Laar, Vincent M van Deursen, Peter van der Meer, Dirk J van Veldhuisen, Adriaan A Voors, Gert-Jan Luijckx
AIMS: Heart failure (HF) is associated with tissue hypoperfusion and congestion leading to organ dysfunction. Although cerebral blood flow (CBF) is preserved over a wide range of perfusion pressures in healthy subjects, it is impaired in end-stage HF. We aimed to compare CBF, autoregulation, and cognitive function in patients with mild non-ischaemic HF with healthy controls. METHODS AND RESULTS: Fifteen patients with mild idiopathic dilated cardiomyopathy and 15 matched healthy controls were studied...
November 14, 2016: European Journal of Heart Failure
https://www.readbyqxmd.com/read/27860029/different-correlates-but-similar-prognostic-implications-for-right-ventricular-dysfunction-in-heart-failure-patients-with-reduced-or-preserved-ejection-fraction
#18
Stefano Ghio, Marco Guazzi, Angela Beatrice Scardovi, Catherine Klersy, Francesco Clemenza, Erberto Carluccio, Pier Luigi Temporelli, Andrea Rossi, Pompilio Faggiano, Egidio Traversi, Olga Vriz, Frank Lloyd Dini
AIMS: To evaluate whether the clinical and echocardiographic correlates and the prognostic significance of right ventricular (RV) dysfunction are different in heart failure patients with reduced (HFrEF), mid-range (HFmrEF), or preserved (HFpEF) left ventricular ejection fraction. METHODS AND RESULTS: The study included 1663 patients with heart failure caused by ischaemic or hypertensive heart disease or by idiopathic cardiomyopathy. Left ventricular ejection fraction was <40% in 1123 patients (HFrEF), 40-49% in 156 patients (HFmrEF) and ≥50% in 384 patients (HFpEF)...
November 17, 2016: European Journal of Heart Failure
https://www.readbyqxmd.com/read/27832288/screening-first-degree-relatives-of-patients-with-idiopathic-dilated-cardiomyopathy
#19
M Sefa Okten, K Tuluce, S Yakar Tuluce, S Kilic, H Soner Kemal, A Sayin, O Vuran, B Yagmur, I Mutlu, E Simsek, C Soydas Cinar, C Gurgun
BACKGROUND: This study evaluated whether subclinical myocardial dysfunction occurs in first-degree relatives of patients with idiopathic dilated cardiomyopathy (IDCM), using strain echocardiographic imaging, before apparent left ventricular (LV) failure is observed. PATIENTS AND METHODS: The study comprised 77 subjects aged 16-63 years who had first-degree relatives with a previous or new diagnosis of IDCM. LV myocardial deformation parameters of the first-degree relatives with normal LVEF (≥55%) values, as assessed using 2D echocardiography, were evaluated...
November 10, 2016: Herz
https://www.readbyqxmd.com/read/27818482/high-dose-%C3%AE-blocker-therapy-triggers-additional-reverse-remodeling-in-patients-with-idiopathic-non-ischemic-cardiomyopathy
#20
Daisuke Nitta, Koichiro Kinugawa, Teruhiko Imamura, Naoko P Kato, Issei Komuro
Carvedilol has established its evidence to improve prognosis and facilitate left ventricular reverse remodeling (LVRR) in heart failure patients with reduced left ventricular ejection fraction (LVEF), and many studies have supported its dose-dependency. However, there are few studies demonstrating the effect of high dose carvedilol in Japan. We enrolled 23 patients with idiopathic non-ischemic cardiomyopathy, in whom LVEF remained 45% or less despite 20 mg/ day of carvedilol therapy for > 3 months. After high dose (40 mg/day) carvedilol therapy for > 3 months, LVEF improved (+9...
December 2, 2016: International Heart Journal
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