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Inherited Arrhythmias

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https://www.readbyqxmd.com/read/29457789/a-common-variant-alters-scn5a-mir-24-interaction-and-associates-with-heart-failure-mortality
#1
Xiaoming Zhang, Jin-Young Yoon, Michael Morley, Jared M McLendon, Kranti A Mapuskar, Rebecca Gutmann, Haider Mehdi, Heather L Bloom, Samuel C Dudley, Patrick T Ellinor, Alaa A Shalaby, Raul Weiss, W H Wilson Tang, Christine S Moravec, Madhurmeet Singh, Anne L Taylor, Clyde W Yancy, Arthur M Feldman, Dennis M McNamara, Kaikobad Irani, Douglas R Spitz, Patrick Breheny, Kenneth B Margulies, Barry London, Ryan L Boudreau
SCN5A encodes the voltage-gated Na+ channel NaV1.5 that is responsible for depolarization of the cardiac action potential and rapid intercellular conduction. Mutations disrupting the SCN5A coding sequence cause inherited arrhythmias and cardiomyopathy, and single-nucleotide polymorphisms (SNPs) linked to SCN5A splicing, localization, and function associate with heart failure-related sudden cardiac death. However, the clinical relevance of SNPs that modulate SCN5A expression levels remains understudied. We recently generated a transcriptome-wide map of microRNA (miR) binding sites in human heart, evaluated their overlap with common SNPs, and identified a synonymous SNP (rs1805126) adjacent to a miR-24 site within the SCN5A coding sequence...
February 19, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29434162/bradycardia-is-a-specific-phenotype-of-catecholaminergic-polymorphic-ventricular-tachycardia-induced-by-ryr2-mutations
#2
Kazuaki Miyata, Seiko Ohno, Hideki Itoh, Minoru Horie
Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a lethal inherited disease characterized by ventricular arrhythmias induced by physical exercise or emotional stress. The major cause of CPVT is mutations in RYR2, which encodes the cardiac ryanodine receptor channel. Recent advances in sequencing technology have yielded incidental findings of RYR2 variants in other cardiac diseases. Analyzing the characteristics of RYR2 variants related to CPVT will be useful for differentiation from those related to other cardiac diseases...
February 9, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29431731/physiological-genomics-identifies-genetic-modifiers-of-long-qt-syndrome-type-2-severity
#3
Sam Chai, Xiaoping Wan, Angelina Ramirez-Navarro, Paul J Tesar, Elizabeth S Kaufman, Eckhard Ficker, Alfred L George, Isabelle Deschênes
Congenital long QT syndrome (LQTS) is an inherited channelopathy associated with life-threatening arrhythmias. LQTS type 2 (LQT2) is caused by mutations in KCNH2, which encodes the potassium channel hERG. We hypothesized that modifier genes are partly responsible for the variable phenotype severity observed in some LQT2 families. Here, we identified contributors to variable expressivity in an LQT2 family by using induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) and whole exome sequencing in a synergistic manner...
February 12, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29427818/mutation-linked-excessively-tight-interaction-between-the-calmodulin-binding-domain-and-c-terminal-domain-of-the-cardiac-ryanodine-receptor-as-a-novel-cause-of-catecholaminergic-polymorphic-ventricular-tachycardia
#4
Shigehiko Nishimura, Takeshi Yamamoto, Yoshihide Nakamura, Michiaki Kohno, Yoriomi Hamada, Yoko Sufu, Go Fukui, Takuma Nanno, Hironori Ishiguchi, Takayoshi Kato, Xiaojuan Xu, Makoto Ono, Tetsuro Oda, Shinichi Okuda, Shigeki Kobayashi, Masafumi Yano
BACKGROUND: Ryanodine receptor (RyR2) is known to be a causal gene of catecholaminergic polymorphic ventricular tachycardia (CPVT) as an important inherited disease. Some of the human CPVT-associated mutations were found in a domain (4026-4172), which has EF hand motifs; so-called calmodulin (CaM)-like domain (CaMLD). OBJECTIVE: To investigate the underlying mechanism by which CPVT is induced with mutation at CaMLD. METHODS: We newly generated N4103K/+ knock-in (KI) mice model...
February 7, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29387326/performance-of-electrophysiologic-study-in-an-asymptomatic-patient-with-type-2-intermittent-brugada-syndrome-to-do-or-not-to-do
#5
Kaveh Hosseini, Mansour Jahangiri, Ali Vasheghani Farahani
Background: Brugada syndrome (BrS) is an inherited channelopathy, which is associated with sudden cardiac death due to rapid polymorphic VT or VF. There is no definite consensus regarding the management of asymptomatic patients. Some experts advocate close follow-up; others propose the programmed stimulation for risk stratification. We aimed to evaluate the benefit of complete atrial and ventricular stimulation in patients with BrS and palpitation. Case Presentation: A 30-year-old man was admitted to our hospital because of a family history of sudden cardiac death (SCD) at age less than 45 years...
2018: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/29361520/divergent-effect-of-adrenaline-in-human-induced-pluripotent-stem-cell-derived-cardiomyocytes-obtained-from-hypertrophic-cardiomyopathy
#6
Chandra Prajapati, Marisa Ojala, Katriina Aalto-Setälä
Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disease that affects the heart muscle with diverse clinical outcomes. HCM can cause sudden cardiac death (SCD) during or immediately after mild to rigorous physical work in young patients. However, the mechanism causing SCD as a result of exercise remains unknown, but exercise-induced ventricular arrhythmias are thought to be responsible for this fatal consequence. To understand the disease mechanism behind HCM in a better way, we generated patient-specific induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) from HCM patients carrying either the MYBPC3-Gln1061X or TPM1-Asp175Asn mutation...
January 3, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29345602/the-mental-health-of-adolescents-and-pre-adolescents-living-with-inherited-arrhythmia-syndromes-a-systematic-review-of-the-literature
#7
Patricia E Longmuir, Margaret Sampson, Jennifer Ham, Makenzie Weekes, Bhavika J Patel, Robert M Gow
Potentially fatal arrhythmias add to the mental health challenges of adolescence. This systematic review sought to summarise current knowledge regarding the mental health of adolescents and pre-adolescents diagnosed with inherited arrhythmia syndromes. Searches combining psychological problems with inherited cardiac arrhythmia diagnoses identified 16 studies with paediatric (<18 years) inherited arrhythmia patients. All studies were cross-sectional; 8/16 required an implantable cardioverter defibrillator...
January 18, 2018: Cardiology in the Young
https://www.readbyqxmd.com/read/29343803/targeted-next-generation-sequencing-in-a-young-population-with-suspected-inherited-malignant-cardiac-arrhythmias
#8
Anders Krogh Broendberg, Morten Krogh Christiansen, Jens Cosedis Nielsen, Lisbeth Noerum Pedersen, Henrik Kjaerulf Jensen
Aborted sudden cardiac death in the young often is due to inherited heart disease. However, the clinical phenotype in these patients is not always evident. The aim of this study was to identify pathogenic molecular genetic variants in a population with suspected inherited cardiac arrhythmias. Eligible patients were admitted to Aarhus University Hospital, Denmark during the period 1999-2013 with arrhythmias assumed caused by a hereditary heart disease, and in whom no genotype had been established. We used the Danish national pacemaker and ICD registry to identify this cohort...
January 17, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29304097/left-bundle-branch-block-in-duchenne-muscular-dystrophy-prevalence-genetic-relationship-and-prognosis
#9
Abdallah Fayssoil, Rabah Ben Yaou, Adam Ogna, Cendrine Chaffaut, France Leturcq, Olivier Nardi, Karim Wahbi, Denis Duboc, Frederic Lofaso, Helene Prigent, Bernard Clair, Pascal Crenn, Guillaume Nicolas, Pascal Laforet, Anthony Behin, Sylvie Chevret, David Orlikowski, Djillali Annane
BACKGROUND: Duchenne muscular dystrophy (DMD) is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. We designed this study to determine the prevalence of left bundle branch block (LBBB), whether there is a relationship between LBBB and genetic pattern, and to assess predictive factors for acute cardiac events and mortality in adult DMD patients. METHODS: We reviewed the charts of DMD followed at the Home Mechanical Ventilation Unit of the Raymond Poincare University Hospital...
2018: PloS One
https://www.readbyqxmd.com/read/29300890/lateral-thoracotomy-for-epicardial-pacemaker-placement-in-patients-with-congenital-heart-disease
#10
Paulina J Haight, Robert E Stewart, Elizabeth V Saarel, Gosta B Pettersson, Hani K Najm, Peter F Aziz
OBJECTIVES: Our institution adopted a lateral thoracotomy approach to epicaridal pacemaker implantation with the objective of avoiding epicardial scar tissue and to achieve adequate lead pacing and sensing. We sought to assess the short-term outcomes of this approach. METHODS: A single-centre review was conducted in paediatric patients and adults with congenital heart disease or inherited arrhythmia syndromes who underwent a lateral thoracotomy for epicardial pacemaker placement from August 2010 to January 2016...
January 2, 2018: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/29234865/electromechanical-heterogeneity-in-the-heart-a%C3%A2-key-to-long-qt-syndrome
#11
REVIEW
F F Dressler, J Brado, K E Odening
In the healthy heart, physiological heterogeneities in structure and in electrical and mechanical activity are crucial for normal, efficient excitation and pumping. Alterations of heterogeneity have been linked to arrhythmogenesis in various cardiac disorders such as long QT syndrome (LQTS). This inherited arrhythmia disorder is caused by mutations in different ion channel genes and is characterized by (heterogeneously) prolonged cardiac repolarization and increased risk for ventricular tachycardia, syncope and sudden cardiac death...
December 12, 2017: Herzschrittmachertherapie & Elektrophysiologie
https://www.readbyqxmd.com/read/29233646/induced-brugada-syndrome-possible-sources-of-arrhythmogenesis
#12
REVIEW
Gonçalo Tomé, João Freitas
Brugada syndrome is an inherited cardiac condition with the potential for development of life-threatening arrhythmias in relatively young individuals without significant structural cardiac abnormalities. The condition is characterized by a distinct coved-type ST segment elevation in the right precordial leads (V1-V3). This hallmark pattern (type 1) is often dynamic and sometimes concealed, and may be unmasked in certain conditions or under the effect of certain agents, which include variation of sympathovagal balance, hormones, metabolic factors and drugs...
December 9, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/29221435/exploring-digenic-inheritance-in-arrhythmogenic-cardiomyopathy
#13
Eva König, Claudia Béu Volpato, Benedetta Maria Motta, Hagen Blankenburg, Anne Picard, Peter Pramstaller, Michela Casella, Werner Rauhe, Giulio Pompilio, Viviana Meraviglia, Francisco S Domingues, Elena Sommariva, Alessandra Rossini
BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is an inherited genetic disorder, characterized by the substitution of heart muscle with fibro-fatty tissue and severe ventricular arrhythmias, often leading to heart failure and sudden cardiac death. ACM is considered a monogenic disorder, but the low penetrance of mutations identified in patients suggests the involvement of additional genetic or environmental factors. METHODS: We used whole exome sequencing to investigate digenic inheritance in two ACM families where previous diagnostic tests have revealed a PKP2 mutation in all affected and some healthy individuals...
December 8, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29203757/variant-of-myocardial-infarction-course-in-the-patient-with-left-ventricular-non-compaction
#14
Natalia Y Osovska, Oleksandr I Datsyuk, Natalia V Kuzminova, Yevhen V Shaprynskyi, Hennadii V Bevz, Yaroslav M Pashynskyy, Oleksandr D Bondarchuk, Olena V Sergiichuk, Yaroslav V Karyi, Galina M Mazur
Non-compacted left ventricle in adults is a rare occurrence, though it is diagnosed even more rarely. As a rule in patients with non-compacted left ventricle (LVNC) other pathologic condition is diagnosed, notably hypertrophic or dilated cardiomyopathy. The majority of LVNC cases are diagnosed in early infancy but currently there are asymptomatic cases detected by means of echocardiographic examination. Real prevalence of LVNC is unknown. According to many authors LVNC occurs in 9.2-9.5% of children with diagnosed cardiomyopathies...
2017: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29178656/unique-genetic-background-and-outcome-of-non-caucasian-japanese-probands-with-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy
#15
Yuko Wada, Seiko Ohno, Takeshi Aiba, Minoru Horie
BACKGROUND: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy mainly caused by desmosomal gene mutation. More than half of Caucasian probands have desmosomal mutations, which lead to earlier onset of ventricular arrhythmias. Among non-Caucasians, the genetic background of ARVD/C probands and its prognostic impact remain unclear. METHODS AND RESULTS: We genotyped 99 unrelated Japanese ARVD/C probands for plakophilin 2 (PKP2), desmoglein 2 (DSG2), desmoplakin (DSP), and desmocollin 2 (DSC2) between 2005 and 2014...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29170972/the-accessibility-and-utilization-of-genetic-testing-for-inherited-heart-rhythm-disorders-a-canadian-cross-sectional-survey-study
#16
Thomas M Roston, Laura Dewar, Sonia Franciosi, Julie Hathaway, Kirsten Bartels, Taylor Cunningham, Karen A Gibbs, Sam Sheps, Zachary W M Laksman, Shubhayan Sanatani, Andrew D Krahn
The genetic basis of many sudden death-related conditions has been elucidated. These include inherited arrhythmias and arrhythmogenic cardiomyopathies, termed inherited heart rhythm disorders (IHRD). Advising on and interpreting genetic testing is challenging for the general cardiologist. This has led to the development of interdisciplinary clinics for IHRD in varying stages of establishment in Canada. We sought the viewpoints and patterns of practice of Canadian IHRD experts, and assessed their ability to access genetic testing for IHRD using a national cross-sectional survey...
November 23, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29169751/selecting-the-right-defibrillator-in-the-younger-patient-transvenous-epicardial-or-subcutaneous
#17
Nikolay Bogush, Raul E Espinosa, Bryan C Cannon, Philip L Wackel, Hideo Okamura, Paul A Friedman, Christopher J McLeod
The advent of the subcutaneous implantable cardioverter-defibrillator (SQ-ICD) provides an alternative to transvenous and epicardial ICD therapy. Particularly germane to the young patient with congenital heart disease or inheritable arrhythmia syndromes, the SQ-ICD may be ideal for those who do not require permanent cardiac pacing. The serious complications associated with transvenous ICD systems are largely driven by the intravascular components of these devices and are avoided by this extravascular technique...
January 1, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29162046/association-of-common-genetic-variants-related-to-atrial-fibrillation-and-the-risk-of-ventricular-fibrillation-in-the-setting-of-first-st-elevation-myocardial-infarction
#18
Reza Jabbari, Javad Jabbari, Charlotte Glinge, Bjarke Risgaard, Stefan Sattler, Bo Gregers Winkel, Christian Juhl Terkelsen, Hans-Henrik Tilsted, Lisette Okkels Jensen, Mikkel Hougaard, Stig Haunsø, Thomas Engstrøm, Christine M Albert, Jacob Tfelt-Hansen
BACKGROUND: Cohort studies have revealed an increased risk for ventricular fibrillation (VF) and sudden cardiac death (SCD) in patients with atrial fibrillation (AF). In this study, we hypothesized that single nucleotide polymorphisms (SNP) previously associated with AF may be associated with the risk of VF caused by first ST-segment elevation myocardial infarction (STEMI). METHODS: We investigated association of 24 AF-associated SNPs with VF in the prospectively assembled case-control study among first STEMI-patients of Danish ancestry...
November 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29158215/risk-stratification-in-arrhythmogenic-right-ventricular-cardiomyopathy
#19
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/29130502/cardiac-involvement-in-the-muscular-dystrophies
#20
REVIEW
Nicholas J Silvestri, Haisam Ismail, Peter Zimetbaum, Elizabeth M Raynor
Cardiac disease is a common clinical manifestation present in a variety of neuromuscular disorders, most notably the muscular dystrophies. Heart disease may produce the presenting or predominant symptoms in these disorders but more often not does not result in clinical features at the time of initial presentation. Cardiac involvement in the muscular dystrophies results from pathologic changes in the myocardium and the cardiac conduction system, leading to cardiomyopathy and/or rhythm disturbances including supraventricular arrhythmias, life-threatening ventricular arrhythmias, and sudden cardiac death...
November 11, 2017: Muscle & Nerve
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