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Inherited Arrhythmias

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https://www.readbyqxmd.com/read/29221435/exploring-digenic-inheritance-in-arrhythmogenic-cardiomyopathy
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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 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
https://www.readbyqxmd.com/read/29097701/two-missense-mutations-in-kcnq1-cause-pituitary-hormone-deficiency-and-maternally-inherited-gingival-fibromatosis
#9
Johanna Tommiska, Johanna Känsäkoski, Lasse Skibsbye, Kirsi Vaaralahti, Xiaonan Liu, Emily J Lodge, Chuyi Tang, Lei Yuan, Rainer Fagerholm, Jørgen K Kanters, Päivi Lahermo, Mari Kaunisto, Riikka Keski-Filppula, Sanna Vuoristo, Kristiina Pulli, Tapani Ebeling, Leena Valanne, Eeva-Marja Sankila, Sirpa Kivirikko, Mitja Lääperi, Filippo Casoni, Paolo Giacobini, Franziska Phan-Hug, Tal Buki, Manuel Tena-Sempere, Nelly Pitteloud, Riitta Veijola, Marita Lipsanen-Nyman, Kari Kaunisto, Patrice Mollard, Cynthia L Andoniadou, Joel A Hirsch, Markku Varjosalo, Thomas Jespersen, Taneli Raivio
Familial growth hormone deficiency provides an opportunity to identify new genetic causes of short stature. Here we combine linkage analysis with whole-genome resequencing in patients with growth hormone deficiency and maternally inherited gingival fibromatosis. We report that patients from three unrelated families harbor either of two missense mutations, c.347G>T p.(Arg116Leu) or c.1106C>T p.(Pro369Leu), in KCNQ1, a gene previously implicated in the long QT interval syndrome. Kcnq1 is expressed in hypothalamic GHRH neurons and pituitary somatotropes...
November 3, 2017: Nature Communications
https://www.readbyqxmd.com/read/29089904/ion-channel-trafficking-control-of-ion-channel-density-as-a-target-for-arrhythmias
#10
REVIEW
Elise Balse, Hannah E Boycott
The shape of the cardiac action potential (AP) is determined by the contributions of numerous ion channels. Any dysfunction in the proper function or expression of these ion channels can result in a change in effective refractory period (ERP) and lead to arrhythmia. The processes underlying the correct targeting of ion channels to the plasma membrane are complex, and have not been fully characterized in cardiac myocytes. Emerging evidence highlights ion channel trafficking as a potential causative factor in certain acquired and inherited arrhythmias, and therapies which target trafficking as opposed to pore block are starting to receive attention...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29058180/studying-kcnq1-mutation-and-drug-response-in-type-1-long-qt-syndrome-using-patient-specific-induced-pluripotent-stem-cell-derived-cardiomyocytes
#11
Heming Wei, Jianjun Wu, Zhenfeng Liu
Patient-specific human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes (hiPSC-CMs) are becoming a valuable model for studying inherited cardiac arrhythmias. Type 1 long-QT syndrome is associated with the genetic variants of KCNQ1 gene that encodes Kv7.1, the α-subunit of the voltage-gated potassium channel QKT subfamily member 1 that channels the slow component of the outwardly rectifying K(+) channel current in cardiac myocytes. Patient- or disease-specific hiPSC-CM model could facilitate the characterization of the genotype-phenotype relationships and testing of individualized drug responses...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29048771/catecholaminergic-polymorphic-ventricular-tachycardia-an-update
#12
REVIEW
Andrés R Pérez-Riera, Raimundo Barbosa-Barros, Marianne P C de Rezende Barbosa, Rodrigo Daminello-Raimundo, Augusto A de Lucca, Luiz C de Abreu
Catecholaminergic polymorphic ventricular tachycardia is a rare devastating lethal inherited disorder or sporadic cardiac ion channelopathy characterized by unexplained syncopal episodes, and/or sudden cardiac death (SCD), aborted SCD (ASCD), or sudden cardiac arrest (SCA) observed in children, adolescents, and young adults without structural heart disease, consequence of adrenergically mediated arrhythmias: exercise-induced, by acute emotional stress, atrial pacing, or β-stimulant infusion, even when the electrocardiogram is normal...
October 19, 2017: Annals of Noninvasive Electrocardiology
https://www.readbyqxmd.com/read/29042423/low-prevalence-of-inappropriate-shocks-in-patients-with-inherited-arrhythmia-syndromes-with-the-subcutaneous-implantable-defibrillator-single-center-experience-and-long-term-follow-up
#13
Boris Rudic, Erol Tülümen, Veronika Berlin, Susanne Röger, Ksenija Stach, Volker Liebe, Ibrahim El-Battrawy, Christina Dösch, Theano Papavassiliu, Ibrahim Akin, Martin Borggrefe, Jürgen Kuschyk
BACKGROUND: Up to 40% of patients with transvenous implantable cardioverter-defibrillator (ICD) experience lead-associated complications and may suffer from high complication rates when lead extraction is indicated. Subcutaneous ICD may represent a feasible alternative; however, the efficacy of the subcutaneous ICD in the detection and treatment of ventricular arrhythmias in patients with hereditary arrhythmia syndromes has not been fully evaluated. METHODS AND RESULTS: Patients with primary hereditary arrhythmia syndromes who fulfilled indication for defibrillator placement were eligible for enrollment...
October 17, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28990948/case-series-of-three-different-scenarios-with-drug-induced-brugada-patterns-fact-or-fiction
#14
Serkan Asil, Uğur Canpolat, Ergün Barış Kaya, Kudret Aytemir, Giray Kabakçı
Brugada syndrome is an inherited cardiac arrhythmia condition characterized by coved-type ST elevation and J point elevation of at least 2 mm in at least 2 of the right precordial electrocardiogram (ECG) leads (V1-3). An increasing number of noncardiac agents, including psychotropic and anesthetic drugs, have been shown to induce a characteristic Brugada ECG pattern, predisposing the patient to fatal ventricular arrhythmias. However, there are scarce data regarding the clinical significance. In this case series, a typical Brugada pattern was unmasked by lithium, valproic acid, and thiocolchicoside; however, the clinical scenario was different in all 3 cases, ranging from an asymptomatic patient to sudden cardiac arrest...
October 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28987496/low-symptomatic-skeletal-muscle-disease-in-patients-with-a-cardiac-disease-diagnostic-approach-in-skeletal-muscle-laminopathies
#15
Agnieszka Madej-Pilarczyk, Michał Marchel, Karolina Ochman, Joanna Cegielska, Roman Steckiewicz
Mild skeletal muscle symptoms might be accompanied with severe cardiac disease, sometimes indicating a serious inherited disorder. Very often it is a cardiologist who refers a patient with cardiomyopathy and/or cardiac arrhythmia and discrete muscle disease for neurological consultation, which helps to establish a proper diagnosis. Here we present three families in which a diagnosis of skeletal muscle laminopathy was made after careful examination of the members, who presented with cardiac arrhythmia and/or heart failure and a mild skeletal muscle disease, which together with positive family history allowed to direct the molecular diagnostics and then provide appropriate treatment and counseling...
September 25, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28984650/diagnosis-and-clinical-management-of-long-qt-syndrome
#16
Christian Steinberg
PURPOSE OF REVIEW: To give an overview over the substantial advances in the diagnosis and management of Long-QT syndrome since its first description 60 years ago. RECENT FINDINGS: LQT syndrome remains the most common inherited arrhythmia and is a leading cause for sudden unexplained death accounting for up to 20-25% of cases. Rapid progress of genetic technology over the past 2 decades has significantly improved our understanding of molecular and genetic mechanisms of LQT...
October 4, 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28979908/epicardial-ablation-of-ventricular-tachycardia-in-a-patient-with-arrhythmogenic-right-ventricular-dysplasia-after-failed-conventional-endocardial-ablation-a-case-for-remote-navigation-with-functional-image-integration
#17
Sabine Ernst, Karine Roy, Eric Lim, Glyn Thomas
Arrhythmogenic right ventricular dysplasia (ARVD) is an inheritable heart muscle disease that predominantly affects the right ventricle (RV) and predisposes to ventricular arrhythmias and sudden cardiac death (SCD)(1). The natural history is predominantly related to ventricular electric instability which may lead to arrhythmic SCD, mostly in young people and athletes(2,3), but may progress with significant RV muscle disease and left-ventricular (LV) involvement and can result in right or biventricular heart failure(4)...
December 30, 2016: Global Cardiology Science & Practice
https://www.readbyqxmd.com/read/28961276/cpvt-associated-cardiac-ryanodine-receptor-mutation-g357s-with-reduced-penetrance-impairs-ca2-release-termination-and-diminishes-protein-expression
#18
Yingjie Liu, Jinhong Wei, Siobhan M Wong King Yuen, Bo Sun, Yijun Tang, Ruiwu Wang, Filip Van Petegem, S R Wayne Chen
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of the most lethal inherited cardiac arrhythmias mostly linked to cardiac ryanodine receptor (RyR2) mutations with high disease penetrance. Interestingly, a novel RyR2 mutation G357S discovered in a large family of more than 1400 individuals has reduced penetrance. The molecular basis for the incomplete disease penetrance in this family is unknown. To gain insights into the variable disease expression in this family, we determined the impact of the G357S mutation on RyR2 function and expression...
2017: PloS One
https://www.readbyqxmd.com/read/28957535/exercise-and-the-right-ventricle-a-potential-achilles-heel
#19
Andre La Gerche, Dhrubo J Rakhit, Guido Claessen
Exercise is associated with unequivocal health benefits and results in many structural and functional changes of the myocardium that enhance performance and prevent heart failure. However, intense exercise also presents a significant hemodynamic challenge in which the right-sided heart chambers are exposed to a disproportionate increase in afterload and wall stress that can manifest as myocardial fatigue or even damage if intense exercise is sustained for prolonged periods. This review focuses on the physiological factors that result in a disproportionate load on the right ventricle during exercise and the long-term consequences...
October 1, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28956012/flecainide-ameliorates-arrhythmogenicity-through-ncx-flux-in-andersen-tawil-syndrome-ips-cell-derived-cardiomyocytes
#20
Yusuke Kuroda, Shinsuke Yuasa, Yasuhide Watanabe, Shogo Ito, Toru Egashira, Tomohisa Seki, Tetsuhisa Hattori, Seiko Ohno, Masaki Kodaira, Tomoyuki Suzuki, Hisayuki Hashimoto, Shinichiro Okata, Atsushi Tanaka, Yoshiyasu Aizawa, Mitsushige Murata, Takeshi Aiba, Naomasa Makita, Tetsushi Furukawa, Wataru Shimizu, Itsuo Kodama, Satoshi Ogawa, Norito Kokubun, Hitoshi Horigome, Minoru Horie, Kaichiro Kamiya, Keiichi Fukuda
Andersen-Tawil syndrome (ATS) is a rare inherited channelopathy. The cardiac phenotype in ATS is typified by a prominent U wave and ventricular arrhythmia. An effective treatment for this disease remains to be established. We reprogrammed somatic cells from three ATS patients to generate induced pluripotent stem cells (iPSCs). Multi-electrode arrays (MEAs) were used to record extracellular electrograms of iPSC-derived cardiomyocytes, revealing strong arrhythmic events in the ATS-iPSC-derived cardiomyocytes...
March 2017: Biochemistry and Biophysics Reports
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