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    Severe pemphigoid gestationis associated with acute disseminated encephalomyelitis in the setting of a systemic disorder.
    Australas J Dermatol 2017 May 19. Epub 2017 May 19.
    Department of Neurology, Mohammed V. Rabat Military Hospital, Rabat, Morocco.
    Pemphigoid gestationis is a skin-specific autoimmune disorder that can sometimes present as the cutaneous manifestation of a multiorgan disease due to potentially common pathogenic mechanisms. We report a severe form of pemphigoid gestationis in a 32-year-old primigravida woman, who presented at 22 weeks of gestation with headaches and blurred vision, later developing encephalitis, intrauterine fetal demise and dilated cardiomyopathy. Read More

    Parkin regulation of CHOP modulates susceptibility to cardiac endoplasmic reticulum stress.
    Sci Rep 2017 May 18;7(1):2093. Epub 2017 May 18.
    Cardiovascular and Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
    The regulatory control of cardiac endoplasmic reticulum (ER) stress is incompletely characterized. As ER stress signaling upregulates the E3-ubiquitin ligase Parkin, we investigated the role of Parkin in cardiac ER stress. Parkin knockout mice exposed to aortic constriction-induced cardiac pressure-overload or in response to systemic tunicamycin (TM) developed adverse ventricular remodeling with excessive levels of the ER regulatory C/EBP homologous protein CHOP. Read More

    Cardiovascular involvement and manifestations of systemic Chikungunya virus infection: A systematic review.
    F1000Res 2017 29;6:390. Epub 2017 Mar 29.
    Public Health and Infection Research Group, Faculty of Health Sciences, Universidad Tecnológica de Pereira, Pereira, Risaralda, Colombia.
    Background: In the last three years, chikungunya virus disease has been spreading, affecting particularly the Americas, producing more than two million cases. In this setting, not only new disease-related epidemiological patterns have been found, but also new clinical findings have been reported by different research groups. These include findings on the cardiovascular system, including clinical, electrocardiographic and echocardiographic alterations. Read More

    Non-selective His bundle pacing with a biphasic waveform: enhancing septal resynchronization.
    Europace 2017 May 17. Epub 2017 May 17.
    Instituto de Ingeniería Biomedica, Facultad de Ingeniería, Universidad de Buenos Aires, Av Paseo Colon 850, 4to Piso, C1063ACV, CABA, Argentina.
    Aims: His bundle pacing has shown to prevent detrimental effects from right ventricular apical pacing (RVA) and proved to resynchronize many conduction disturbances cases. However, the extent of His bundle pacing resynchronization is limited. An optimized stimulation waveform could expand this limit when implemented in His bundle pacing sets. Read More

    The role of the persistent enterovirus infection in development of acute stroke.
    Wiad Lek 2017 ;70(2):187-191
    O.O. BOGOMOLETS NATIONAL MEDICAL UNIVERSITY, KYIV, UKRAINE.
    Introduction: The role of enteroviruses in development of dilated cardiomyopathy, myocardial infarction, myocarditis, pericarditis is known.

    The Aim: To examine the role of chronic enterovirus infections in development of acute stroke.

    Material And Methods: Blood samples from 72 patients with acute stroke (study group) and 35 patients without vascular disease (control group) were investigated by reverse transcription polymerase chain reaction for the presence of enterovirus RNA, by using virological method to detect enteroviruses, by ELISA for the levels of IgM and IgG antibodies to enteroviruses. Read More

    Obscurin variants and inherited cardiomyopathies.
    Biophys Rev 2017 May 5. Epub 2017 May 5.
    Imperial College London, London, UK.
    The inherited cardiomyopathies, hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) and left ventricular non-compaction (LVNC), have been frequently associated with mutations in sarcomeric proteins. In recent years, advances in DNA sequencing technology has allowed the study of the giant proteins of the sarcomere, such as titin and nebulin. Obscurin has been somewhat neglected in these studies, largely because its functional role is far from clear, although there was an isolated report in 2007 of obscurin mutations associated with HCM. Read More

    Genetic epidemiology of titin-truncating variants in the etiology of dilated cardiomyopathy.
    Biophys Rev 2017 May 5. Epub 2017 May 5.
    Integrated Cardio Metabolic Centre (ICMC), Karolinska Institutet, 141 57, Huddinge, Sweden.
    Heart failure (HF) is a complex clinical syndrome defined by the inability of the heart to pump enough blood to meet the body's metabolic demands. Major causes of HF are cardiomyopathies (diseases of the myocardium associated with mechanical and/or electrical dysfunction), among which the most common form is dilated cardiomyopathy (DCM). DCM is defined by ventricular chamber enlargement and systolic dysfunction with normal left ventricular wall thickness, which leads to progressive HF. Read More

    Tacrolimus-Associated Dilated Cardiomyopathy in Adult Patient After Orthotopic Liver Transplant.
    J Investig Med High Impact Case Rep 2017 Apr-Jun;5(2):2324709617706087. Epub 2017 Apr 27.
    University of Southern California, Los Angeles, CA, USA.
    This report presents a case of tacrolimus cardiotoxicity in an adult patient who received tacrolimus immunosuppression for orthotopic liver transplant (OLT). Tacrolimus-associated cardiotoxicity has been described in the literature, however this is the first case to document the development of a dilated cardiomyopathy in a patient shortly after initiating tacrolimus therapy post transplant. With the growing use of tacrolimus in transplant medicine, this case report expands the literature of tacrolimus cardiotoxicity and can aid clinicians in the evaluation and management of patients exposed to this form of immunosuppression. Read More

    Transcriptome Profiling Reveals Novel BMI- and Sex-specific Gene Expression Signature for Human Cardiac Hypertrophy.
    Physiol Genomics 2017 May 12:physiolgenomics.00122.2016. Epub 2017 May 12.
    West Virginia University School of Medisine
    Background: How obesity or sex may affect the gene expression profiles of human cardiac hypertrophy is unknown. We hypothesized that body-mass index (BMI) and sex can affect gene expression profiles of cardiac hypertrophy.

    Results: Human heart tissues were grouped according to sex (male, female), BMI (lean<25 kg/m(2), obese>30 kg/m(2)), or left ventricular hypertrophy (LVH) and non-LVH non-failed controls (NF). Read More

    Predictors and implications of early left ventricular ejection fraction improvement in new-onset idiopathic nonischemic cardiomyopathy with narrow QRS complex: A NEOLITH substudy.
    Ann Noninvasive Electrocardiol 2017 May 12. Epub 2017 May 12.
    Heart and Vascular Institute, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
    Background: Predictors and implications of early left ventricular ejection fraction (LVEF) improvement with guideline-directed medical therapy (GDMT) in new-onset idiopathic nonischemic cardiomyopathy (NICM) with narrow QRS complex are not well described. The objectives were to describe predictors of LVEF improvement after 3 months on GDMT and adverse cardiac events based on post-GDMT LVEF status (≤35% vs. >35%). Read More

    Heart failure: Pilot transcriptomic analysis of cardiac tissue by RNA-sequencing.
    Cardiol J 2017 May 12. Epub 2017 May 12.
    IRCCS SDN via E. Gianturco, 113 80143 Naples, Italy.
    Background: Despite left ventricular (LV) dysfunction contributing to mortality in chronic heart failure (HF), the molecular mechanisms of LV failure continues to remain poorly understood and myocardial biomarkers have yet to be identified. The aim of this pilot study was to investigate specific transcriptome changes occurring in cardiac tissues of patients with HF compared to healthy condition patients to improve diagnosis and possible treatment of affected subjects.

    Methods: Unlike other studies, only dilated cardiomyopathy (DCM) (n = 2) and restrictive cardiomyopathy (RCM) (n = 2) patients who did not report family history of the disease were selected with the aim of obtaining a homogeneous population for the study. Read More

    Atrial Septostomy for Left Atrial Decompression During Extracorporeal Membrane Oxygenation by Inoue Balloon Catheter.
    Circ J 2017 May 11. Epub 2017 May 11.
    Division of Cardiovascular Medicine, Department of Medicine, China Medical University Hospital.
    Background: Refractory pulmonary edema is an infrequent but serious complication in patients receiving venoarterial extracorporeal membrane oxygenation (VA-ECMO) for myocardial failure. Left atrial (LA) decompression in this setting is important. Although a few methods have been reported, the experience is mostly limited to children. Read More

    Exclusion of alternative exon 33 of CaV1.2 calcium channels in heart is proarrhythmogenic.
    Proc Natl Acad Sci U S A 2017 May 10. Epub 2017 May 10.
    Department of Physiology, National University of Singapore, 117597 Singapore;
    Alternative splicing changes the CaV1.2 calcium channel electrophysiological property, but the in vivo significance of such altered channel function is lacking. Structure-function studies of heterologously expressed CaV1. Read More

    Comparison of clinical outcomes in peripartum cardiomyopathy and age-matched dilated cardiomyopathy: A 15-year nationwide population-based study in Asia.
    Medicine (Baltimore) 2017 May;96(19):e6898
    aDivision of Cardiology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan City, Taiwan bDivision of Cardiology, Weill Cornell Medical Center, New York cDepartment of Cardiothoracic and Vascular Surgery, Chang Gung Memorial Hospital, Linkou Medical Center dDepartment of Infectious Diseases, Chang Gung Memorial Hospital, Linkou Medical Center eDepartment of Rehabilitation, Chang Gung Memorial Hospital, Linkou Medical Center fCollege of Medicine, Chang Gung University, Taoyuan City, Taiwan gDepartment of Cardiology, Chang Gung Memorial Hospital, Keelung, Taiwan.
    Peripartum cardiomyopathy (PPCM), often classified as a form of dilated cardiomyopathy (DCM), is the myocardial dysfunction that occurs in late pregnancy and through the first few postpartum months.The aim of this study is to investigate the differences in the clinical outcomes of PPCM and DCM.Electronic medical records from 1997 to 2011 were retrieved from the Taiwan National Health Insurance Research Database. Read More

    Left ventricular noncompaction cardiomyopathy in a patient with trisomy 13: A report and review of the literature.
    Am J Med Genet A 2017 May 9. Epub 2017 May 9.
    Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Japan.
    Left ventricular noncompaction cardiomyopathy (LVNC) is characterized by prominent trabecular meshwork, and it is thought to result from arrest of the normal compaction process during embryogenesis. Patients with LVNC may be asymptomatic or have symptoms ranging from heart failure to stroke, life-threatening arrhythmias, or sudden death. The frequency of LVNC in children has increased with longer clinical courses. Read More

    Hypocalciuric Hypercalcemia due to Impaired Renal Tubular Calcium Excretion in a Type 2 Diabetic Patient.
    Case Rep Endocrinol 2017 11;2017:3694868. Epub 2017 Apr 11.
    Department of Endocrinology and Metabolism, West China Hospital of Sichuan University, Chengdu, China.
    The case we presented here was a 73-year-old gentleman, who was admitted to endocrinology department due to recurrent fatigue for 1 year. He had medical histories of type 2 diabetes for 18 years and developed CKD 4 years ago. He also suffered from dilated cardiomyopathy, and coronary heart disease, moderate sleep apnea syndrome, primary hypothyroidism, and gout. Read More

    Advances in Diagnosis and Management of Mitochondrial Cardiomyopathy.
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2017 Apr;39(2):290-295
    Department of Cardiology,Fuwai Hospital,National Center for Cardiovascular Disease,CAMS and PUMC,Beijing 100037,China.
    Mitochondrial cardiomyopathy (MCM) is a series of myocardial conditions characterized by abnormal heart-muscle structure,function,or both,secondary to genetic defects involving the mitochondrial respiratory chain,in the absence of concomitant coronary artery disease,hypertension,valvular disease,or congenital heart disease. MCM patients typically have hypertrophic or dilated cardiomyopathy. Arrhythmias and left ventricular myocardial noncompaction are less common,and heart failure may occur as the first symptom in some patients. Read More

    Distribution of strain patterns in children with dilated cardiomyopathy.
    Echocardiography 2017 May 7. Epub 2017 May 7.
    Departments of Pediatrics, Division of Pediatric Cardiology, Leiden University Medical Center, Leiden, The Netherlands.
    Objectives: This study aimed to evaluate the predicting value of quantitative and qualitative dyssynchrony parameters as assessed by two-dimensional speckle tracking echocardiography (STE) on outcome in children with dilated cardiomyopathy (DCM). Furthermore, the reproducibility of these parameters was investigated.

    Background: In previous studies in adults with heart failure, several dyssynchrony parameters have been shown to be a valuable predictor of clinical outcome. Read More

    The Notch Ligands DLL1 and Periostin Are Associated with Symptom Severity and Diastolic Function in Dilated Cardiomyopathy.
    J Cardiovasc Transl Res 2017 May 4. Epub 2017 May 4.
    Research Institute of Internal Medicine, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
    In dilated cardiomyopathy (DCM), adverse myocardial remodeling is essential, potentially involving Notch signaling. We hypothesized that secreted Notch ligands would be dysregulated in DCM. We measured plasma levels of the canonical Delta-like Notch ligand 1 (DLL1) and non-canonical Notch ligands Delta-like 1 homologue (DLK1) and periostin (POSN) in 102 DCM patients and 32 matched controls. Read More

    Lung ultrasound as a translational approach for non-invasive assessment of heart failure with reduced or preserved ejection fraction in mice.
    Cardiovasc Res 2017 May 4. Epub 2017 May 4.
    Centro Nacional de Investigaciones Cardiovasculares Carlos III, Madrid, Spain.
    Methods And Results: ─ We used LUS to study HF in a mouse model of systolic dysfunction, dilated cardiomyopathy, and in a mouse model of diastolic dysfunction, diabetic cardiomyopathy. LUS proved to be a reliable and reproducible tool to detect pulmonary congestion in mice. The combination of LUS and echocardiography allowed discriminating those mice that develop HF from those that do not, even in the presence of evident cardiac dysfunction. Read More

    Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy.
    Hum Mol Genet 2017 May 2. Epub 2017 May 2.
    Cardiovascular Genetics Research Laboratory.
    Non-ischemic dilated cardiomyopathy (DCM) has been recognized as a heritable disorder for over 25 years, yet clinical genetic testing is non-diagnostic in > 50% of patients, underscoring the ongoing need for DCM gene discovery. Here, whole exome sequencing uncovered a novel molecular basis for idiopathic end-stage heart failure in two sisters who underwent cardiac transplantation at three years of age. Compound heterozygous recessive mutations in TAF1A, encoding an RNA polymerase I complex protein, were associated with marked fibrosis of explanted hearts and gene-specific nucleolar segregation defects in cardiomyocytes, indicative of impaired ribosomal RNA synthesis. Read More

    Sokolow-Lyon voltage is suitable for monitoring improvement in cardiac function and prognosis of patients with idiopathic dilated cardiomyopathy.
    Ann Noninvasive Electrocardiol 2017 Feb 3. Epub 2017 Feb 3.
    Department of Cardiology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
    Background: The clinical significance of electrocardiogram in the assessment of patients with idiopathic dilated cardiomyopathy (IDCM) is currently unknown. The aim of this study was to determine the feasibility of recording serial changes in Sokolow-Lyon voltage (∆%QRS-voltage) in one year to estimate left ventricular reverse remodeling (LVRR) and predict a prognosis of IDCM patients under tailored medical therapy.

    Methods: Sixty-eight consecutive patients with mild symptoms (52. Read More

    Study of Vitamin D Status in Patients with Dilated Cardiomyopathy at a Teaching Hospital in North India.
    J Cardiovasc Echogr 2016 Jul-Sep;26(3):89-93
    Department of Medicine, Era's Lucknow Medical College, Sarfarazganj, Lucknow, Uttar Pradesh, India.
    Background/introduction: Recent studies have indicated a much broader role to Vitamin D than simply the regulation of calcium metabolism alone. Vitamin D likely confers physiologically relevant pleiotropic functions that include cardioprotective and immunomodulatory effect, and its deficiency could lead to increased risk of cardiovascular disease and heart failure.

    Aim: The aim of our work was to evaluate the presence of hypovitaminosis D in patients with dilated cardiomyopathy (DCMP) and to study any correlation of echocardiographic parameters with Vitamin D deficiency. Read More

    Lower Body Weight in Men, an Epidemiological Predictor of Enlarged Left Atrium in Sinus Rhythm Patients with Dilated Heart.
    J Cardiovasc Echogr 2016 Jul-Sep;26(3):83-88
    University Clinical Center of Kosova and Medical Faculty, University of Prishtina, Prishtina, Kosovo.
    Background/aims: The source of thrombi in patients with dilated cardiomyopathy is not necessarily from the dilated left ventricle. Left atrium (LA) and left atrial appendage (LAA) might be in charge for relatively high rate of systemic embolizations in these patients. The main aim of our study was to identify epidemiological predictors in sinus rhythm patients with dilated heart for LA and LAA dilation and/or dysfunction. Read More

    Connective tissue growth factor and bone morphogenetic protein 2 are induced following myocardial ischemia in mice and humans.
    Scand J Clin Lab Invest 2017 May 2:1-11. Epub 2017 May 2.
    g Department of Emergency Medicine and Intensive Care , Oslo University Hospital , Oslo , Norway.
    We aimed to study the cardiac expression of bone morphogenetic protein 2, its receptor 1 b, and connective tissue growth factor, factors implicated in cardiac embryogenesis, following ischemia/hypoxia, heart failure, and in remodeling hearts from humans and mice. Biopsies from the left ventricle of patients with end-stage heart failure due to dilated cardiomyopathy or coronary artery disease were compared with donor hearts and biopsies from patients with normal heart function undergoing coronary artery bypass grafting. Mouse model of post-infarction remodeling was made by permanent ligation of the left coronary artery. Read More

    12-month patterns of serum markers of collagen synthesis, transforming growth factor and connective tissue growth factor are similar in new-onset and chronic dilated cardiomyopathy in patients both with and without cardiac fibrosis.
    Cytokine 2017 Apr 28;96:217-227. Epub 2017 Apr 28.
    Department of Cardiac and Vascular Diseases, John Paul II Hospital, 31-202 Krakow, Prądnicka Street 80, Poland; Jagiellonian University, Medical Collage, Krakow, Poland.
    Background: The dynamics of the extracellular matrix (ECM) fibrosis process in dilated cardiomyopathy (DCM) may be assessed non-invasively by means of serum markers of fibrosis.

    Aim: To explore the kinetics of serum markers of fibrosis during a 12-month follow-up in DCM.

    Methods: We included 70 consecutive DCM patients (pts) (48±12. Read More

    Echocardiographic characteristics of isolated left ventricular noncompaction.
    ARYA Atheroscler 2016 Sep;12(5):243-247
    General Practitioner, Cardiac Rehabilitation Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan AND Student Research Committee, Mashhad University of Medical Sciences, Mashhad, Iran.
    Background: Although isolated left ventricular noncompaction (ILVNC) has been described almost two decades ago, our knowledge about its diagnosis, presentation, echocardiographic features and clinical outcome is sparse. We aimed to assess the echocardiographic and clinical characteristics of ILVNC in a group of patients referred to our center.

    Methods: Patients who were referred to a tertiary referral center, affiliated with Mashhad University of Medical Sciences, with primary diagnosis of dilated cardiomyopathy underwent comprehensive echocardiographic evaluation. Read More

    Kidney Transplantation in Alström Syndrome: Case Report.
    Transplant Proc 2017 May;49(4):733-735
    UOC Chirurgia Generale e Trapianti d'Organo, La Sapienza Università di Roma, Policlinico Umberto I, Rome, Italy.
    The Alström syndrome is a rare genetic disorder, inherited in an autosomal recessive manner. It has recently been classified as a ciliopathic disorder. Alström syndrome is a multiorgan pathology characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dyslipidemia, short stature in adulthood, hypothyroidism, hypogonadism, dilated or restrictive cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. Read More

    Case Report: Aortic Valve Replacement After JARVIK 2000 Left Ventricular Assist Device Implantation in Long-Time Survivor With Severe Aortic Valve Regurgitation.
    Transplant Proc 2017 May;49(4):729-732
    Department of Cardiac Surgery, University of Siena, Siena, Italy.
    Background: There are limited clinical records in the literature regarding aortic valve replacement in left ventricular assist device (L-VAD) patients. Previously we had two cases of severe aortic valve regurgitation in patients with L-VAD support treated with Corvalve prosthesis insertion and Amplatzer closure procedure. Both patients died a few days after the procedure from complications not related to the procedure itself. Read More

    Analysis of necroptotic proteins in failing human hearts.
    J Transl Med 2017 Apr 28;15(1):86. Epub 2017 Apr 28.
    Department of Pharmacology & Toxicology, Faculty of Pharmacy, Comenius University in Bratislava, Odbojárov 10, 832 32, Bratislava, Slovakia.
    Background: Cell loss and subsequent deterioration of contractile function are hallmarks of chronic heart failure (HF). While apoptosis has been investigated as a participant in the progression of HF, it is unlikely that it accounts for the total amount of non-functional tissue. In addition, there is evidence for the presence of necrotic cardiomyocytes in HF. Read More

    Heart Transplantation in Giant Cell Myocarditis: Analysis of the United Network for Organ Sharing Registry.
    J Card Fail 2017 Apr 24. Epub 2017 Apr 24.
    Advanced Heart Failure & Transplant Center, Harrington Heart & Vascular Institute, University Hospitals Cleveland Medical Center, Case Western Reserve University School of Medicine, Cleveland, OH, USA. Electronic address:
    Background: Giant cell myocarditis (GCM) is a lethal, rapidly progressive disease, for which heart transplantation (HTx) is the treatment of choice. We sought to describe the characteristics and outcomes of patients with GCM who undergo HTx.

    Methods And Results: Methods and Results: We used the UNOS thoracic organ transplantation to identify adults with GCM as the primary diagnosis and compared their characteristics and outcomes with patients who were transplanted for other types of myocarditides and for idiopathic dilated cardiomyopathy (IDCMP). Read More

    Histopathological and Immunological Characteristics of Tachycardia-Induced Cardiomyopathy.
    J Am Coll Cardiol 2017 May;69(17):2160-2172
    Department of Cardiology and Cardiovascular Diseases, University of Tübingen, Tübingen, Germany. Electronic address:
    Background: Tachycardiomyopathy or tachycardia-induced cardiomyopathy (TCM) has been known for decades as a reversible form of nonischemic cardiomyopathy. However, its mechanism and properties remain poorly understood.

    Objectives: The current study investigated endomyocardial biopsy samples from patients with TCM and compared them with samples from patients with dilated cardiomyopathy (DCM) and inflammatory cardiomyopathy (ICM). Read More

    Increased collagen within the transverse tubules in human heart failure.
    Cardiovasc Res 2017 Apr 20. Epub 2017 Apr 20.
    Department of Physiology, Faculty of Medical and Health Sciences, University of Auckland, 85 Park Road, Grafton, Auckland 1023, New Zealand.
    Aims: In heart failure transverse-tubule (t-tubule) remodelling disrupts calcium release, and contraction. T-tubules in human failing hearts exhibit increased labelling by wheat germ agglutinin (WGA), a lectin that binds to the dystrophin-associated glycoprotein complex. We hypothesized changes in this complex may explain the increased WGA labelling and contribute to t-tubule remodelling in the failing human heart. Read More

    "Graded" epidural anesthesia for renal transplant in a patient with dilated cardiomyopathy and severe left ventricle systolic dysfunction.
    Saudi J Anaesth 2017 Apr-Jun;11(2):222-224
    Department of Anesthesiology, Critical Care and Pain, Tata Memorial Hospital, Mumbai, Maharashtra, India.
    Dilated cardiomyopathy with decreased contractility of left or both ventricles impose a serious risk to patient posted for major surgery. Even after best medical optimization, careful perioperative management with risk and benefit of general and regional anesthesia should be discussed beforehand. We here reporting a case of successful management of a patient with dilated cardiomyopathy with ejection fraction of 15% posted for renal transplant surgery under graded epidural anesthesia. Read More

    The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation.
    Cardiology 2017 Apr 26;137(3):188-192. Epub 2017 Apr 26.
    Prince Sultan Cardiac Center, Qassim, Saudi Arabia.
    Objective: Cardiomyopathy (CMP) in children is a clinically and genetically heterogeneous group of disorders. Disease-associated mutations have been identified in more than 50 genes. Recently, mutations in the mitochondrial tRNA processing gene, ELAC2, were reported to be associated with the recessively inherited form of hypertrophic CMP (HCM). Read More

    Contrast-enhanced T1 mapping-based extracellular volume fraction independently predicts clinical outcome in patients with non-ischemic dilated cardiomyopathy: a prospective cohort study.
    Eur Radiol 2017 Apr 24. Epub 2017 Apr 24.
    Division of Cardiology, Severance Cardiovascular Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.
    Objectives: We aimed to evaluate the prognostic role of cardiac magnetic resonance imaging (CMR)-based extracellular volume fraction (ECV) in patients with non-ischemic dilated cardiomyopathy (NIDCM) and compare it with late gadolinium enhancement (LGE) parameters.

    Methods: This was a single-center, prospective, cohort study of 117 NIDCM patients (71 men, 51.9 ± 16. Read More

    CRISPR-Cpf1 correction of muscular dystrophy mutations in human cardiomyocytes and mice.
    Sci Adv 2017 Apr 12;3(4):e1602814. Epub 2017 Apr 12.
    Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
    Duchenne muscular dystrophy (DMD), caused by mutations in the X-linked dystrophin gene (DMD), is characterized by fatal degeneration of striated muscles. Dilated cardiomyopathy is one of the most common lethal features of the disease. We deployed Cpf1, a unique class 2 CRISPR (clustered regularly interspaced short palindromic repeats) effector, to correct DMD mutations in patient-derived induced pluripotent stem cells (iPSCs) and mdx mice, an animal model of DMD. Read More

    Early and frequent defibrillator discharge in patients with cardiac sarcoidosis compared with patients with idiopathic dilated cardiomyopathy.
    Int J Cardiol 2017 Apr 19. Epub 2017 Apr 19.
    Department of Cardiovascular Medicine, Okayama University, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
    Background: Little is known about the suitability of implantable cardioverter defibrillator (ICD) implantation in patients with cardiac sarcoidosis (CS). We evaluated the efficacy of ICD implantation in patients with CS, including suspected CS, compared with those with idiopathic dilated cardiomyopathy (DCM).

    Methods: A total of 102 consecutive patients with definite CS, suspected CS, or DCM who underwent ICD implantation were enrolled. Read More

    Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy.
    Clin Genet 2017 Apr 24. Epub 2017 Apr 24.
    Laboratoire de Cardiogénétique Moléculaire, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Lyon, France.
    Dilated cardiomyopathy (DCM) is one of the leading causes of heart failure with high morbidity and mortality. More than 40 genes have been reported to cause DCM. To provide new insights into the pathophysiology of dilated cardiomyopathy, a next-generation sequencing (NGS) workflow based on a panel of 48 cardiomyopathies-causing genes was used to analyze a cohort of 222 DCM patients. Read More

    Genotype-specific pathogenic effects in human dilated cardiomyopathy.
    J Physiol 2017 Apr 24. Epub 2017 Apr 24.
    Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, the Netherlands.
    Background: Dilated cardiomyopathy (DCM) can be caused by mutations in sarcomeric and non-sarcomeric genes. In this study we defined the pathogenic effects of three DCM causing mutations: the sarcomeric mutations in genes encoding cardiac troponin I (TNNI3p.98truncation ) and cardiac troponin T (TNNT2p. Read More

    A humanized HLA-DR4 mouse model for autoimmune myocarditis.
    J Mol Cell Cardiol 2017 Apr 18;107:22-26. Epub 2017 Apr 18.
    University of Bristol, School of Clinical Sciences, UK; Bristol Heart Institute, Bristol Royal Infirmary, Bristol BS2 8HW, UK. Electronic address:
    Myocarditis, the principal cause of dilated cardiomyopathy and heart failure in young adults, is associated with autoimmunity to human cardiac α-myosin (hCAM) and the DR4 allele of human major histocompatibility II (MHCII). We developed an hCAM-induced myocarditis model in human HLA-DR4 transgenic mice that lack all mouse MHCII genes, demonstrating that immunization for 3weeks significantly increased splenic T-cell proliferative responses and titres of IgG1 and IgG2c antibodies, abolished weight gain, provoked cardiac inflammation and significantly impaired cardiac output and fractional shortening, by echocardiography, compared to adjuvant-injected mice. Neither cardiac dilatation nor fibrosis occurred at this time point but prolonging the experiment was associated with mortality. Read More

    Long-term outcome of transvenous pacemaker implantation in infants: a retrospective cohort study.
    Europace 2017 Apr;19(4):581-587
    Division of Paediatric Cardiology, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, The Netherlands.
    Aim: Evaluation of long-term outcome of transvenous pacemaker (PM) implantation in infants.

    Methods And Results: A retrospective analysis of all transvenous PM implantations in infants <10 kg between September 1997 and October 2001 was made. Indications for PM implantation, age at implantation, and determinants of long-term outcome including cardiac function, PM function, and PM (system) complications were noted. Read More

    The long non-coding RNA H19 promotes cardiomyocyte apoptosis in dilated cardiomyopathy.
    Oncotarget 2017 Apr;8(17):28588-28594
    Department of Cardiology, The Second Affiliated Hospital of Soochow University, Suzhou, China.
    In the previous study, we generated a rat model of dilated cardiomyopathy (DCM) induced by adriamycin and found that the expression of lncRNA H19 was significantly upregulated in myocardial tissue. The present study was aimed to investigate the potential role of H19 in the pathogenesis of adriamycin-induced DCM. H19 knockdown in the myocardium of DCM rats attenuated cardiomyocyte apoptosis and improved left ventricular structure and function. Read More

    SUMOylation in cardiac disorders - a review.
    Eur Rev Med Pharmacol Sci 2017 Apr;21(7):1583-1587
    The Affiliated XuZhou Center Hospital of Nanjing University of Chinese Medicine, XuZhou Central Hospital, XuZhou, China.
    SUMOylation regulates diverse cellular processes including transcription, cell cycle, protein stability, and apoptosis. A recent research has now revealed the role of SUMO1 in cardiac disorders. Studies have evidenced that failing heart induces SUMO2/3 conjugation. Read More

    In-depth proteomic profiling of left ventricular tissues in human end-stage dilated cardiomyopathy.
    Oncotarget 2017 Feb 25. Epub 2017 Feb 25.
    Institutes of Biomedical Sciences of Shanghai Medical School and Minhang Hospital, Fudan University, Shanghai, China.
    Dilated cardiomyopathy (DCM) is caused by reduced left ventricular (LV) myocardial function, which is one of the most common causes of heart failure (HF). We performed iTRAQ-coupled 2D-LC-MS/MS to profile the cardiac proteome of LV tissues from healthy controls and patients with end-stage DCM. We identified 4263 proteins, of which 125 were differentially expressed in DCM tissues compared to LV controls. Read More

    Recovery in Patients With Dilated Cardiomyopathy With Loss-of-Function Mutations in the Titin Gene.
    JAMA Cardiol 2017 Apr 19. Epub 2017 Apr 19.
    Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada3Division of Cardiology, Department of Medicine, Royal Victoria Hospital, McGill University Health Centre, Montreal, Quebec, Canada6Department of Human Genetics, McGill University, Montreal, Quebec, Canada7Preventive and Genomic Cardiology, McGill University Health Center, Montreal, Quebec, Canada.

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