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https://www.readbyqxmd.com/read/28102477/potential-new-mechanisms-of-pro-arrhythmia-in-arrhythmogenic-cardiomyopathy-focus-on-calcium-sensitive-pathways
#1
REVIEW
C J M van Opbergen, M Delmar, T A B van Veen
Arrhythmogenic cardiomyopathy, or its most well-known subform arrhythmogenic right ventricular cardiomyopathy (ARVC), is a cardiac disease mainly characterised by a gradual replacement of the myocardial mass by fibrous and fatty tissue, leading to dilatation of the ventricular wall, arrhythmias and progression towards heart failure. ARVC is commonly regarded as a disease of the intercalated disk in which mutations in desmosomal proteins are an important causative factor. Interestingly, the Dutch founder mutation PLN R14Del has been identified to play an additional, and major, role in ARVC patients within the Netherlands...
January 19, 2017: Netherlands Heart Journal
https://www.readbyqxmd.com/read/28101919/lost-in-markers-time-for-phenomics-and-phenomapping-in-dilated-cardiomyopathy
#2
EDITORIAL
Sophie Van Linthout, Carsten Tschöpe
No abstract text is available yet for this article.
January 19, 2017: European Journal of Heart Failure
https://www.readbyqxmd.com/read/28101623/-102-patients-with-suspected-myocarditis-clinical-presentation-diagnostics-therapy-and-prognosis
#3
S Streuber, F Noack, D Stoevesandt, A Schlitt
INTRODUCTION: Myocarditis is a disease which is difficult to diagnose and which includes a risk of the development of dilated cardiomyopathy and sudden cardiac death. METHODS AND PATIENTS: In this study 102 patients were included from the time period 2003-2013 after diagnosis or suspected diagnosis of myocarditis in the department of internal medicine at the University Hospital Halle (Saale). RESULTS: Of the study participants 77.5% were male and the average age was 35...
January 18, 2017: Herz
https://www.readbyqxmd.com/read/28100362/-severe-obstructive-sleep-apnea-hypopnea-syndrome-with-dilated-cardiomyopathy-leading-to-pulmonary-hypertension-case-report-and-literature-review
#4
R K Chen, C Hong, Y M Zhou, A L Kuang, Y T Zhang, S M Qing, C L Liu, N F Zhang
Objective: To study the relationship between dilated cardiomyopathy and obstructive sleep apnea-hypopnea syndrome (OSAHS) and to evaluate the curative effects of continuous positive airway pressure (CPAP) in OSAHS complicated with dilated cardiomyopathy. Methods: We reported one case with the symptom of exertional dyspnea for 1 year and aggravating for 1 month. The patient finally was diagnosed with severe OSAHS complicated with dilated cardiomyopathy leading to pulmonary hypertension. A systematic literature review was performed for similar published cases in Pubmed, Wanfang and CNKI database, using the keywords (obstructive sleep apnea) OR(OSA) OR(OSAHS) AND(dilated cardiomyopathy OR DCM)from January 1990 to May 2016...
January 12, 2017: Chinese Journal of Tuberculosis and Respiratory Diseases
https://www.readbyqxmd.com/read/28099279/new-survival-target-for-duchenne-muscular-dystrophy
#5
Marcello Villanova, Sifa Kazibwe
We report a patient with a typical phenotype and clinical history of Duchenne muscular dystrophy who is currently 53 years old. Because of improvements in cardiopulmonary care, there has been a great improvement in survival and preservation of quality of life for many of these patients. Whereas it is no longer rare to find patients with Duchenne muscular dystrophy living into their fifth decade, this is the first report of a patient in his sixth decade of life. We believe that besides use of continuous noninvasive respiratory support, the fortuitous absence of dilated cardiomyopathy associated with the particular point mutation of his dystrophin gene has permitted prolonged survival...
February 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28099117/casz1-loss-of-function-mutation-contributes-to-familial-dilated-cardiomyopathy
#6
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
#7
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/28097671/junctional-ectopic-tachycardia-localization-and-procedural-approach-using-cryoablation
#8
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/28095452/influence-of-mechanical-circulatory-support-on-endothelin-receptor-expression-in-human-left-ventricular-myocardium-from-patients-with-dilated-cardiomyopathy-dcm
#9
Florian Gärtner, Getu Abraham, Astrid Kassner, Daniela Baurichter, Hendrik Milting
BACKGROUND: In terminal failing hearts ventricular assist devices (VAD) are implanted as a bridge to transplantation. Endothelin receptor (ETR) antagonists are used for treatment of secondary pulmonary hypertension in VAD patients. However, the cardiac ETR regulation in human heart failure and during VAD support is incompletely understood. METHODS: In paired left ventricular samples of 12 dilated cardiomyopathy patients we investigated the density of endothelin A (ETA) and B (ETB) receptors before VAD implantation and after device removal...
2017: PloS One
https://www.readbyqxmd.com/read/28088328/altered-myocyte-contractility-and-calcium-homeostasis-in-alpha-myosin-heavy-chain-point-mutations-linked-to-familial-dilated-cardiomyopathy
#10
Matthew Klos, Lakshmi Mundada, Indroneal Banerjee, Sherry Morgenstern, Stephanie Myers, Michael Leone, Mark Kleid, Todd Herron, Eric Devaney
Mutations in the human cardiac motor protein beta-myosin heavy chain (βMHC) have been long recognized as a cause of familial hypertrophic cardiomyopathy. Recently, mutations (P830L and A1004S) in the less abundant but faster isoform alpha-myosin heavy chain (αMHC) have been linked to dilated cardiomyopathy (DCM). In this study, we sought to determine the cellular contractile phenotype associated with these point mutations. Ventricular myocytes were isolated from 2 month male Sprague Dawley rats. Cells were cultured in M199 media and infected with recombinant adenovirus containing the P830L or the A1004S mutant human αMHC at a MOI of 500 for 18 h...
January 11, 2017: Archives of Biochemistry and Biophysics
https://www.readbyqxmd.com/read/28087564/right-ventricular-ejection-fraction-is-incremental-to-left-ventricular-ejection-fraction-for-the-prediction-of-future-arrhythmic-events-in-patients-with-systolic-dysfunction
#11
Yoko Mikami, Umjeet Jolly, Bobak Heydari, Mingkai Peng, Fahad Almehmadi, Mohammed Zahrani, Mahmoud Bokhari, John Stirrat, Carmen P Lydell, Andrew G Howarth, Raymond Yee, James A White
BACKGROUND: Left ventricular ejection fraction remains the primary risk stratification tool used in the selection of patients for implantable cardioverter defibrillator therapy. However, this solitary marker fails to identify a substantial portion of patients experiencing sudden cardiac arrest. In this study, we examined the incremental value of considering right ventricular ejection fraction for the prediction of future arrhythmic events in patients with systolic dysfunction using the gold standard of cardiovascular magnetic resonance...
January 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/28087342/myeloid-leukemia-factor-1-is-a-novel-modulator-of-neonatal-rat-cardiomyocyte-proliferation
#12
Ashraf Yusuf Rangrez, Jost Pott, Annika Kluge, Robert Frauen, Katharina Stiebeling, Phillip Hoppe, Samuel Sossalla, Norbert Frey, Derk Frank
The present study focuses on the identification of the gene expression profile of neonatal rat cardiomyocytes (NRVCMs) after dynamic mechanical stretch through microarrays of RNA isolated from cells stretched for 2, 6 or 24h. In this analysis, myeloid leukemia factor-1 (MLF1) was found to be significantly downregulated during the course of stretch. We found that MLF1 is highly expressed in the heart, however, its cardiac function is unknown yet. In line with microarray data, MLF1 was profoundly downregulated in in vivo mouse models of cardiomyopathy, and also significantly reduced in the hearts of human patients with dilated cardiomyopathy...
January 10, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28080919/restrictive-cardiomyopathy-and-secondary-congestive-heart-failure-in-a-mcdowell-s-carpet-python-morelia-spilota-mcdowelli
#13
Lionel Schilliger, Valérie Chetboul, Cécile Damoiseaux, Alexandra Nicolier
Echocardiography is an established and noninvasive diagnostic tool used in herpetologic cardiology. Various cardiac lesions have been previously described in reptiles with the exception of restrictive cardiomyopathy. In this case report, restrictive cardiomyopathy and congestive heart failure associated with left atrial and sinus venosus dilation were diagnosed in a 2-yr-old captive lethargic McDowell's carpet python ( Morelia spilota mcdowelli), based on echocardiographic, Doppler, and histopathologic examinations...
December 2016: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://www.readbyqxmd.com/read/28077817/prognostic-significance-of-non-dilated-left-ventricular-size-and-mitral-regurgitation-in-patients-with-dilated-phase-of-hypertrophic-cardiomyopathy
#14
Toru Kubo, Yuichi Baba, Takayoshi Hirota, Katsutoshi Tanioka, Naohito Yamasaki, Yoshinori L Doi, Hiroaki Kitaoka
Although a subtype of hypertrophic cardiomyopathy (HCM), dilated phase of HCM (D-HCM) characterized by left ventricular (LV) systolic dysfunction, has been reported to have a poor prognosis, some patients with D-HCM survive for a relatively long period. The degree of LV dilatation and functional mitral regurgitation (MR) are generally thought to be important predictors of poor prognosis in patients with LV systolic dysfunction. However, there is little information available on the relations among LV size, presence of significant MR, and prognosis in D-HCM patients...
January 11, 2017: International Heart Journal
https://www.readbyqxmd.com/read/28074340/clinical-significance-of-cathepsin-l-and-cathepsin-b-in-dilated-cardiomyopathy
#15
Siddharth Mehra, Manish Kumar, Mansi Manchanda, Ratnakar Singh, Bhaskar Thakur, Neha Rani, Sudheer Arava, Rajiv Narang, Dharamvir Singh Arya, Shyam S Chauhan
Dysregulated expression of lysosomal cysteine cathepsins is associated with adverse cardiac remodeling, a characteristic of several cardiovascular diseases. However, the information regarding the role of cysteine cathepsin L (CTSL) and cathepsin B (CTSB) in dilated cardiomyopathy (DCM) is limited. The present study was aimed to investigate the expression of CTSL and CTSB in animal model of doxorubicin (doxo)-induced cardiomyopathy as well as in peripheral blood samples of DCM patients. Cardiac tissue sections from doxo-treated and control rats were used to study the expression of CTSL and CTSB by enzyme assay and immunohistochemistry (IHC)...
January 10, 2017: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/28070695/barth-syndrome-connecting-cardiolipin-to-cardiomyopathy
#16
REVIEW
Nikita Ikon, Robert O Ryan
The Barth syndrome (BTHS) is caused by an inborn error of metabolism that manifests characteristic phenotypic features including altered mitochondrial membrane phospholipids, lactic acidosis, organic acid-uria, skeletal muscle weakness and cardiomyopathy. The underlying cause of BTHS has been definitively traced to mutations in the tafazzin (TAZ) gene locus on chromosome X. TAZ encodes a phospholipid transacylase that promotes cardiolipin acyl chain remodeling. Absence of tafazzin activity results in cardiolipin molecular species heterogeneity, increased levels of monolysocardiolipin and lower cardiolipin abundance...
January 9, 2017: Lipids
https://www.readbyqxmd.com/read/28070248/childhood-cardiomyopathies-a-study-in-tertiary-care-hospital-in-upper-egypt
#17
Mohamed Abd Elaal Bakeet, Montaser Mohamed Mohamed, Ahmed Ahmed Allam, Rania Gamal
INTRODUCTION: Cardiomyopathy (CMP) is defined by the World Health Organization (WHO) as a disease of the myocardium associated with cardiac dysfunction. An understanding of CMP is very important, as it is a common cause of heart failure in children, and the most common indication for heart transplantation in children older than one year, but data on CMP in Egypt are scarce. The aim of this study was to determine the number, risk factors, clinical presentation, complications and outcome of different types of childhood cardiomyopathies in Sohag University Hospital...
November 2016: Electronic Physician
https://www.readbyqxmd.com/read/28069793/decreased-wnt-%C3%AE-catenin-signalling-contributes-to-the-pathogenesis-of-dilated-cardiomyopathy-caused-by-mutations-in-the-lamin-a-c-gene
#18
Caroline Le Dour, Coline Macquart, Fusako Sera, Shunichi Homma, Gisele Bonne, John P Morrow, Howard J Worman, Antoine Muchir
Cardiomyopathy caused by lamin A/C gene (LMNA) mutations (hereafter referred as LMNA cardiomyopathy) is characterized by cardiac conduction abnormalities and left ventricular systolic dysfunction predisposing to heart failure. Previous cardiac transcriptional profiling of Lmna(H222P/H222P) mouse, a small animal model of LMNA cardiomyopathy, suggested decreased WNT/β-catenin signalling. We confirmed decreased WNT/β-catenin signalling in the hearts of these mice by demonstrating decreased β-catenin and WNT proteins...
January 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28069640/sequence-variation-in-ppp1r13l-results-in-a-novel-form-of-cardio-cutaneous-syndrome
#19
Tzipora C Falik-Zaccai, Yiftah Barsheshet, Hanna Mandel, Meital Segev, Avraham Lorber, Shachaf Gelberg, Limor Kalfon, Shani Ben Haroush, Adel Shalata, Liat Gelernter-Yaniv, Sarah Chaim, Dorith Raviv Shay, Morad Khayat, Michal Werbner, Inbar Levi, Yishay Shoval, Galit Tal, Stavit Shalev, Eli Reuveni, Emily Avitan-Hersh, Eugene Vlodavsky, Liat Appl-Sarid, Dorit Goldsher, Reuven Bergman, Zvi Segal, Ora Bitterman-Deutsch, Orly Avni
Dilated cardiomyopathy (DCM) is a life-threatening disorder whose genetic basis is heterogeneous and mostly unknown. Five Arab Christian infants, aged 4-30 months from four families, were diagnosed with DCM associated with mild skin, teeth, and hair abnormalities. All passed away before age 3. A homozygous sequence variation creating a premature stop codon at PPP1R13L encoding the iASPP protein was identified in three infants and in the mother of the other two. Patients' fibroblasts and PPP1R13L-knocked down human fibroblasts presented higher expression levels of pro-inflammatory cytokine genes in response to lipopolysaccharide, as well as Ppp1r13l-knocked down murine cardiomyocytes and hearts of Ppp1r13l-deficient mice...
January 9, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28069158/systolic-myocardial-volume-gain-in-dilated-hypertrophied-and-normal-heart-cmr-study
#20
Ł Mazurkiewicz, E Orłowska-Baranowska, J Petryka, M Śpiewak, M Gawor, B Miłosz-Wieczorek, K Werys, Ł A Małek, M Marczak, J Grzybowski
AIM: To investigate changes in myocardial tissue volume during the cardiac cycle to verify the hypothesis of non-compressibility of the myocardium in healthy individuals (HI) as well as in patients with hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and aortic stenosis (AS). MATERIALS AND METHODS: The study group included 30 HI, and patients with HCM (n=110), DCM (n=89), and AS (n=78). Left ventricular (LV) function, end-diastolic, and end-systolic volumes were calculated based on cardiac magnetic resonance imaging (CMR) for all participants...
January 6, 2017: Clinical Radiology
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