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restrictive cardiomyopathy

Leslie Citrome, Joseph P McEvoy, Stephen R Saklad
Clozapine is a highly effective antipsychotic medication, which provides a range of significant benefits for patients with schizophrenia, and is the standard of care for treatment-resistant schizophrenia as well as for reducing the risk of suicidal behaviors in schizophrenia and schizoaffective disorder. However, clozapine is widely underutilized, largely because prescribing clinicians lack experience in prescribing it and managing its adverse events (AEs). Clozapine is associated with three uncommon but immediately dangerous AEs-agranulocytosis, myocarditis/cardiomyopathy, and seizures-as well as AEs that may become dangerous if neglected, including weight gain, metabolic syndrome and constipation, and others that are annoying or distressing such as sedation, nighttime enuresis and hypersalivation...
2016: Clinical Schizophrenia & related Psychoses
N W E Van den Berg, M G Slieker, I M van Beynum, C M Bilardo, D de Bruijn, S A Clur, J M J Cornette, I M E Frohn-Mulder, M C Haak, K E H van Loo-Maurus, G T R Manten, A B M H Rackowitz, L A J Rammeloo, A Reimer, M E B Rijlaarsdam, M W Freund
INTRODUCTION: Congenital atrioventricular block (CAVB) is a rare disorder with a significant morbidity and mortality. Consensus regarding the prescription and efficacy of prenatal corticosteroids is lacking. This nationwide study was initiated to evaluate the effects of prenatal treatment with corticosteroids on the outcome of CAVB in The Netherlands. METHODS: All fetuses identified with isolated congenital AVB-II° or AVB-III° in any of the eight academic fetal heart centers of The Netherlands between 2003 and 2013 were included and reviewed...
September 30, 2016: International Journal of Cardiology
Sara Saberi, Sharlene M Day
Inherited cardiomyopathies have highly variable expression in terms of symptoms, functional limitations, and disease severity. Associated risk of sudden cardiac death is also variable. International guidelines currently recommend restriction of all athletes with cardiomyopathy from participation in competitive sports. While the guidelines are necessarily conservative because predictive risk factors for exercise-triggered SCD have not been clearly identified, the risk is clearly not uniform across all athletes and all sports...
November 2016: Cardiology Clinics
Anna Kostareva, Artem Kiselev, Alexandra Gudkova, Goar Frishman, Andreas Ruepp, Dmitrij Frishman, Natalia Smolina, Svetlana Tarnovskaya, Daniel Nilsson, Anna Zlotina, Tatiana Khodyuchenko, Tatiana Vershinina, Tatiana Pervunina, Alexandra Klyushina, Andrey Kozlenok, Gunnar Sjoberg, Irina Golovljova, Thomas Sejersen, Eugeniy Shlyakhto
BACKGROUND: Cardiomyopathies represent a rare group of disorders often of genetic origin. While approximately 50% of genetic causes are known for other types of cardiomyopathies, the genetic spectrum of restrictive cardiomyopathy (RCM) is largely unknown. The aim of the present study was to identify the genetic background of idiopathic RCM and to compile the obtained genetic variants to the novel signalling pathways using in silico protein network analysis. PATIENTS AND METHODS: We used Illumina MiSeq setup to screen for 108 cardiomyopathy and arrhythmia-associated genes in 24 patients with idiopathic RCM...
2016: PloS One
Vidushi Kulshrestha, Nutan Agarwal
Diabetes in pregnancy starts affecting the foetus even in the pre-conception period. The complications encountered in third trimester are foetal macrosomia and intrauterine foetal demise; birth of a macrosomic baby further leads to shoulder dystocia, birth trauma, brachial plexus injury. Additionally, pregnancies with overt/pregestational diabetes may be complicated with foetal growth restriction, congenital abnormalities diagnosed in third trimester and foetal hypertrophic obstructive cardiomyopathy. Even minor degrees of hyperglycaemia is associated with adverse pregnancy outcome...
September 2016: JPMA. the Journal of the Pakistan Medical Association
Jader Santos Cruz, Fabiana Simão Machado, Catherine Ropert, Danilo Roman-Campos
Chagas disease is caused by the trypanosomatid Trypanosoma cruzi, which chronically causes heart problems in up to 30% of infected patients. Chagas disease was initially restricted to Latin America. However, due to migratory events, this disease may become a serious worldwide health problem. During Chagas disease, many patients die of cardiac arrhythmia despite the apparent benefits of anti-arrhythmic therapy (e.g., amiodarone). Here, we assimilate the cardiac form of Chagas disease to an inflammatory cardiac disease...
August 11, 2016: Trends in Cardiovascular Medicine
Deniz Akdis, Corinna Brunckhorst, Firat Duru, Ardan M Saguner
This overview gives an update on the molecular mechanisms, clinical manifestations, diagnosis and therapy of arrhythmogenic cardiomyopathy (ACM). ACM is mostly hereditary and associated with mutations in genes encoding proteins of the intercalated disc. Three subtypes have been proposed: the classical right-dominant subtype generally referred to as ARVC/D, biventricular forms with early biventricular involvement and left-dominant subtypes with predominant LV involvement. Typical symptoms include palpitations, arrhythmic (pre)syncope and sudden cardiac arrest due to ventricular arrhythmias, which typically occur in athletes...
August 2016: Arrhythmia & Electrophysiology Review
Hala Mahmoud Koura, Neamat M Abdalla, Mona Hamed Ibrahim, Maha M A Abo Hashish, Sherif Mohamed Zaki
BACKGROUND: B-type natriuretic peptide (BNP) levels are elevated in children with congenital heart disease involving a left-to-right shunt (LRS) and are also raised in dilated cardiomyopathy (DCM). As far as we know, there are few reports in the literature comparing the change of the NT-proBNP in LRS and DCM especially in the pediatric age group. OBJECTIVES: The aim of the study was to compare the changes of the NT-proBNP in pediatric patients with LRS and DCM. Correlation between the levels of NT-proBNP and the echocardiographic parameters in both groups was determined...
June 2016: Iranian Journal of Pediatrics
Rafal Ploski, Malgorzata Rydzanicz, Tomasz M Ksiazczyk, Maria Franaszczyk, Agnieszka Pollak, Joanna Kosinska, Ewa Michalak, Piotr Stawinski, Lidia Ziolkowska, Zofia T Bilinska, Bozena Werner
Restrictive cardiomyopathy is a rare form of pediatric cardiac disease, for which the known genes include MYH7, TNNT2, TNNI3, ACTC1, and DES. We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c.C23T] and p.D145E [c.C435A]). This association between restrictive cardiomyopathy and TNNC1 mutations was strengthened by prospective observations on the second pregnancy in the family which revealed, in the presence of the same TNNC1 genotype, prenatally diagnosed hypertrophic cardiomyopathy which evolved into restrictive cardiomyopathy, heart failure and death at the age of 9 months...
September 8, 2016: American Journal of Medical Genetics. Part A
Elham Kayvanpour, Farbod Sedaghat-Hamedani, Ali Amr, Alan Lai, Jan Haas, Daniel B Holzer, Karen S Frese, Andreas Keller, Katrin Jensen, Hugo A Katus, Benjamin Meder
AIMS: Routine genetic testing in Dilated Cardiomyopathy (DCM) has recently become reality using Next-Generation Sequencing. Several studies have explored the relationship between genotypes and clinical phenotypes to support risk estimation and therapeutic decisions, however, most studies are small or restricted to a few genes. This study provides to our knowledge the first systematic meta-analysis on genotype-phenotype associations in DCM. METHODS AND RESULTS: We retrieved PubMed/Medline literature on genotype-phenotype associations in patients with DCM and mutations in LMNA, PLN, RBM20, MYBPC3, MYH7, TNNT2 and TNNI3...
August 30, 2016: Clinical Research in Cardiology: Official Journal of the German Cardiac Society
Cássia Rubia Bernardo, Ana Vitória Silveira Camargo, Luís Sérgio Ronchi, Amanda Priscila de Oliveira, Eumildo de Campos Júnior, Aldenis Albaneze Borim, Cinara Cássia Brandão de Mattos, Reinaldo Bulgarelli Bestetti, Luiz Carlos de Mattos
Chagas disease, caused by Trypanosoma cruzi, can affect the heart, esophagus and colon. The reasons that some patients develop different clinical forms or remain asymptomatic are unclear. It is believed that tissue immunogenetic markers influence the tropism of T. cruzi for different organs. ABO, Secretor and Lewis histo-blood group systems express a variety of tissue carbohydrate antigens that influence the susceptibility or resistance to diseases. This study aimed to examine the association of ABO, secretor and Lewis histo-blood systems with the clinical forms of Chagas disease...
August 24, 2016: Infection, Genetics and Evolution
Alexey V Dvornikov, Nikolai Smolin, Mengjie Zhang, Jody L Martin, Seth L Robia, Pieter P de Tombe
The cardiac Troponin cTnI-R145W mutation is associated with restrictive cardiomyopathy (RCM). Recent evidence suggests that this mutation induces perturbed myofilament length dependent activation (LDA) under conditions of maximal protein kinase A (PKA) stimulation. Some cardiac disease causing mutations, however, have been associated with a blunted response to PKA mediated phosphorylation; whether this includes LDA is unknown. Endogenous Troponin was exchanged in isolated skinned human myocardium for recombinant troponin containing either cTnI: R145W, PKA/PKC phosphomimetic charge mutations (S23D/S24D; T143E), or various combinations thereof...
August 24, 2016: Journal of Biological Chemistry
Lei Zhao, Quan Fang
The heart, like any organ in the body, is susceptible to amyloid deposition. Although more than 30 types of protein can cause amyloidosis, only two types commonly deposit in the ventricular myocardium: amyloid light chain and amyloid transthyretin. Amyloid cardiomyopathy is usually a major determinant of patient outcomes, and the diagnosis of heart involvement can be often relatively under-diagnosed, owing to nonspecific presenting symptoms and signs at a subclinical stage. The diagnosis of cardiac amyloidosis is usually performed by endomyocardial biopsy; however, the invasive nature and related high-risk complications restrict its wide use in clinical settings...
August 23, 2016: Heart Failure Reviews
Paweł Rubiś, Lucyna Rudnicka-Sosin, Artur Jurczyszyn, Marianna Janion, Piotr Podolec
No abstract text is available yet for this article.
2016: Kardiologia Polska
Morie A Gertz
DISEASE OVERVIEW: Immunoglobulin light chain amyloidosis is a clonal, nonproliferative plasma cell disorder in which fragments of immunoglobulin light chain are deposited in tissues. Clinical features depend on organs involved but can include restrictive cardiomyopathy, nephrotic syndrome, hepatic failure, peripheral/autonomic neuropathy, and atypical multiple myeloma. DIAGNOSIS: Tissue biopsy stained with Congo red demonstrating amyloid deposits with applegreen birefringence is required for diagnosis...
September 2016: American Journal of Hematology
Qingqiang Ni, Lin Yun, Rui Xu, Guohua Li, Yucai Yao, Jiamin Li
Classic constrictive pericarditis (CP) is characterized by fibrous scarring and adhesion of both the visceral pericardium and the parietal pericardium, which leads to restricted cardiac filling. However, diagnosing CP with normal thickness pericardium and without calcification is still a challenge. The predominant cause in the developed world is idiopathic or viral pericarditis followed by post-cardiac surgery and post-radiation. Tuberculosis still remains a common cause of CP in developing countries. In this report, we describe a rare case of idiopathic localized constrictive visceral pericardium with normal thickness of the parietal pericardium in a middle-aged man...
September 2016: Frontiers of Medicine
Miora Feinstein-Linial, Massimo Buvoli, Ada Buvoli, Menachem Sadeh, Ron Dabby, Rachel Straussberg, Ilan Shelef, Daniel Dayan, Leslie Anne Leinwand, Ohad S Birk
BACKGROUND: Human skeletal muscles express three major myosin heavy chain (MyHC) isoforms: MyHCIIx (MYH1) in fast type 2B muscle fibers, MyHCIIa (MYH2) in fast type 2A fibers and MyHCI/β-cardiac MyHC (MYH7) in slow type I skeletal fibers and cardiac ventricles. In line with its expression pattern, MYH7 mutations have been reported in association with hypertrophic or dilated cardiomyopathy, skeletal myopathies or a combination of both. We analyzed the clinical and molecular phenotype of two unrelated families of Jewish Moroccan ancestry that presented with apparently autosomal dominant inheritance of progressive Laing-like distal myopathy with non-specific myopathic changes, but uncommon marked contractures and wasting of the neck extensors...
2016: BMC Medical Genetics
Nicla A Varnier, Sarah Chwah, Trent Miller, Franziska Pettit, Mark Brown, David Rees, Amanda Henry
BACKGROUND: Shortness of breath is a common physiological pregnancy presentation, secondary to both hormonal and mechanical effects. Its pathological causes are common (asthma exacerbation or infection); new-onset cardiac pathology is rarely considered. CASE: JC, a 39-year old G4P2T1, presented at 34 weeks' gestation with shortness of breath unrelieved by salbutamol. History included asthma, poly-drug abuse and smoking. Initial presentation was consistent with asthma exacerbation and she was treated as such...
September 2015: Obstetric Medicine
Ayman W El-Hattab, Fernando Scaglia
Mitochondria are found in all nucleated human cells and perform various essential functions, including the generation of cellular energy. Mitochondria are under dual genome control. Only a small fraction of their proteins are encoded by mitochondrial DNA (mtDNA), whereas more than 99% of them are encoded by nuclear DNA (nDNA). Mutations in mtDNA or mitochondria-related nDNA genes result in mitochondrial dysfunction leading to insufficient energy production required to meet the needs for various organs, particularly those with high energy requirements, including the central nervous system, skeletal and cardiac muscles, kidneys, liver, and endocrine system...
2016: Frontiers in Cardiovascular Medicine
Nihal Bakeer, Jeanne James, Swarnava Roy, Janaka Wansapura, Shiva Kumar Shanmukhappa, John N Lorenz, Hanna Osinska, Kurt Backer, Anne-Cecile Huby, Archana Shrestha, Omar Niss, Robert Fleck, Charles T Quinn, Michael D Taylor, Enkhsaikhan Purevjav, Bruce J Aronow, Jeffrey A Towbin, Punam Malik
Cardiopulmonary complications are the leading cause of mortality in sickle cell anemia (SCA). Elevated tricuspid regurgitant jet velocity, pulmonary hypertension, diastolic, and autonomic dysfunction have all been described, but a unifying pathophysiology and mechanism explaining the poor prognosis and propensity to sudden death has been elusive. Herein, SCA mice underwent a longitudinal comprehensive cardiac analysis, combining state-of-the-art cardiac imaging with electrocardiography, histopathology, and molecular analysis to determine the basis of cardiac dysfunction...
August 30, 2016: Proceedings of the National Academy of Sciences of the United States of America
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