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https://www.readbyqxmd.com/read/27909533/patient-specific-induced-pluripotent-stem-cell-derived-cardiomyocytes-for-drug-development-and-screening-in-catecholaminergic-polymorphic-ventricular-tachycardia
#1
REVIEW
Ben Jehuda Ronen, Barad Lili
Catecholaminergic polymorphic ventricular tachycardia (CPVT), an inherited arrhythmia often leading to sudden cardiac death in children and young adults, is characterized by polymorphic/bidirectional ventricular tachycardia induced by adrenergic stimulation associated with emotionally stress or physical exercise. There are two forms of CPVT: 1. CPVT1 is caused by mutations in the RYR2 gene, encoding for ryanodine receptor type 2. CPVT1 is the most common form of CPVT in the population, and is inherited by a dominant mechanism...
August 2016: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/27908349/truncating-flnc-mutations-are-associated-with-high-risk-dilated-and-arrhythmogenic-cardiomyopathies
#2
Martín F Ortiz-Genga, Sofía Cuenca, Matteo Dal Ferro, Esther Zorio, Ricardo Salgado-Aranda, Vicente Climent, Laura Padrón-Barthe, Iria Duro-Aguado, Juan Jiménez-Jáimez, Víctor M Hidalgo-Olivares, Enrique García-Campo, Chiara Lanzillo, M Paz Suárez-Mier, Hagith Yonath, Sonia Marcos-Alonso, Juan P Ochoa, José L Santomé, Diego García-Giustiniani, Jorge L Rodríguez-Garrido, Fernando Domínguez, Marco Merlo, Julián Palomino, María L Peña, Juan P Trujillo, Alicia Martín-Vila, Davide Stolfo, Pilar Molina, Enrique Lara-Pezzi, Francisco E Calvo-Iglesias, Eyal Nof, Leonardo Calò, Roberto Barriales-Villa, Juan R Gimeno-Blanes, Michael Arad, Pablo García-Pavía, Lorenzo Monserrat
BACKGROUND: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death. OBJECTIVES: The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies...
December 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27890882/a-case-of-brugada-syndrome-which-developed-status-epilepticus
#3
Misa Matsui, Kimiko Inoue, Harutoshi Fujimura, Saburo Sakoda
A 35-year-old man showed a convulsive attack with consciousness loss and was suspected of having Brugada syndrome 6 months prior to admission to our hospital. At the initial examination, the patient showed conjugate deviation, followed by left limb convulsions and consciousness loss. He regained consciousness after 1 minute, though cardiac arrest from ventricular fibrillation was noted during an electroencephalography (EEG) examination. Sinus rhythm recovered with defibrillation, though the convulsions persisted and a Status Epilepticus developed...
November 25, 2016: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/27882075/in-silico-evaluation-of-the-potential-antiarrhythmic-effect-of-epigallocatechin-3-gallate-on-cardiac-channelopathies
#4
Maroua Boukhabza, Jaouad El Hilaly, Nourdine Attiya, Ahmed El-Haidani, Younes Filali-Zegzouti, Driss Mazouzi, Mohamed-Yassine Amarouch
Ion channels are transmembrane proteins that allow the passage of ions according to the direction of their electrochemical gradients. Mutations in more than 30 genes encoding ion channels have been associated with an increasingly wide range of inherited cardiac arrhythmias. In this line, ion channels become one of the most important molecular targets for several classes of drugs, including antiarrhythmics. Nevertheless, antiarrhythmic drugs are usually accompanied by some serious side effects. Thus, developing new approaches could offer added values to prevent and treat the episodes of arrhythmia...
2016: Computational and Mathematical Methods in Medicine
https://www.readbyqxmd.com/read/27879323/issues-and-challenges-in-diagnostic-sequencing-for-inherited-cardiac-conditions
#5
REVIEW
Roddy Walsh, Stuart A Cook
BACKGROUND: Inherited cardiac conditions are a relatively common group of Mendelian diseases associated with ill health and death, often in the young. Research into the genetic causes of these conditions has enabled confirmatory and predictive diagnostic sequencing to become an integral part of the clinical management of inherited cardiomyopathies, arrhythmias, aortopathies, and dyslipidemias. CONTENT: Currently, the principle benefit of clinical genetic testing is the cascade screening of family members of patients with a pathogenic variant, enabling targeted follow up of presymptomatic genotype-positive individuals and discharge of genotype-negative individuals to health...
November 22, 2016: Clinical Chemistry
https://www.readbyqxmd.com/read/27861123/tecrl-a-new-life-threatening-inherited-arrhythmia-gene-associated-with-overlapping-clinical-features-of-both-lqts-and-cpvt
#6
Harsha D Devalla, Roselle Gélinas, Elhadi H Aburawi, Abdelaziz Beqqali, Philippe Goyette, Christian Freund, Marie-A Chaix, Rafik Tadros, Hui Jiang, Antony Le Béchec, Jantine J Monshouwer-Kloots, Tom Zwetsloot, Georgios Kosmidis, Frédéric Latour, Azadeh Alikashani, Maaike Hoekstra, Jurg Schlaepfer, Christine L Mummery, Brian Stevenson, Zoltan Kutalik, Antoine Af de Vries, Léna Rivard, Arthur Am Wilde, Mario Talajic, Arie O Verkerk, Lihadh Al-Gazali, John D Rioux, Zahurul A Bhuiyan, Robert Passier
Genetic causes of many familial arrhythmia syndromes remain elusive. In this study, whole-exome sequencing (WES) was carried out on patients from three different families that presented with life-threatening arrhythmias and high risk of sudden cardiac death (SCD). Two French Canadian probands carried identical homozygous rare variant in TECRL gene (p.Arg196Gln), which encodes the trans-2,3-enoyl-CoA reductase-like protein. Both patients had cardiac arrest, stress-induced atrial and ventricular tachycardia, and QT prolongation on adrenergic stimulation...
December 1, 2016: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/27855642/mutation-of-a-common-amino-acid-in-nkx2-5-results-in-dilated-cardiomyopathy-in-two-large-families
#7
Alan Hanley, Katie A Walsh, Caroline Joyce, Michael A McLellan, Sebastian Clauss, Amaya Hagen, Marisa A Shea, Nathan R Tucker, Honghuang Lin, Gerard J Fahy, Patrick T Ellinor
BACKGROUND: The genetic basis for dilated cardiomyopathy (DCM) can be difficult to determine, particularly in familial cases with complex phenotypes. Next generation sequencing may be useful in the management of such cases. METHODS: We report two large families with pleiotropic inherited cardiomyopathy. In addition to DCM, the phenotypes included atrial and ventricular septal defects, cardiac arrhythmia and sudden death. Probands underwent whole exome sequencing to identify potentially causative variants...
November 17, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27826760/myotonic-dystrophy-type-1-management-and-therapeutics
#8
REVIEW
Cheryl A Smith, Laurie Gutmann
Myotonic dystrophy (DM1) is the most common form of adult muscular dystrophy. It is a multisystem disorder with a complex pathophysiology. Although inheritance is autosomal dominant, disease variability is attributed to anticipation, a maternal expansion bias, variable penetrance, somatic mosaicism, and a multitude of aberrant pre-mRNA splicing events. Patient presentations range from asymptomatic or mild late onset adult to severe congenital forms. Multiple organ systems may be affected. Patients may experience early cataracts, myotonia, muscle weakness/atrophy, fatigue, excessive daytime sleepiness, central/obstructive apnea, respiratory failure, cardiac arrhythmia, insulin resistance, dysphagia, GI dysmotility, cognitive impairment, Cluster C personality traits, and/or mood disorders...
December 2016: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/27818464/rare-variants-in-ank2-associated-with-various-inherited-arrhythmia-syndromes
#9
Hiroshi Watanabe, Tohru Minamino
No abstract text is available yet for this article.
November 3, 2016: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/27790939/ablatogenomics-can-genotype-guide-catheter-ablation-for-cardiac-arrhythmias
#10
Jason D Roberts, Gregory M Marcus
Previously confined to the management of rare inherited arrhythmia syndromes, a role for genetics within cardiac electrophysiology has begun to emerge for more common arrhythmias, including atrial fibrillation (AF). Catheter ablation for AF is an invasive procedure effective for restoring normal rhythm, however, fails in up to 40% of those undergoing their first procedure and carries a risk for serious adverse events. Recent studies have suggested that a common genetic variant within chromosome 4q25 may be a powerful predictor of procedural success, highlighting the potential of an 'ablatogenomic' strategy...
October 28, 2016: Pharmacogenomics
https://www.readbyqxmd.com/read/27784853/phenotypic-variability-of-ank2-mutations-in-patients-with-inherited-primary-arrhythmia-syndromes
#11
Mari Ichikawa, Takeshi Aiba, Seiko Ohno, Daichi Shigemizu, Junichi Ozawa, Keiko Sonoda, Megumi Fukuyama, Hideki Itoh, Yoshihiro Miyamoto, Tatsuhiko Tsunoda, Takeru Makiyama, Toshihiro Tanaka, Wataru Shimizu, Minoru Horie
BACKGROUND: Mutations inANK2have been reported to cause various arrhythmia phenotypes. The prevalence ofANK2mutation carriers in inherited primary arrhythmia syndrome (IPAS), however, remains unknown in Japanese. Using a next-generation sequencer, we aimed to identifyANK2mutations in our cohort of IPAS patients, in whom conventional Sanger sequencing failed to identify pathogenic mutations in major causative genes, and to assess the clinical characteristics ofANK2mutation carriers.Methods and Results:We screened 535 probands with IPAS and analyzed 46 genes including wholeANK2exons using a bench-top NGS (MiSeq, Illumina) or performed whole-exome-sequencing using HiSeq2000 (Illumina)...
October 25, 2016: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/27766308/cardiac-disease-and-arrhythmogenesis-mechanistic-insights-from-mouse-models
#12
Lois Choy, Jie Ming Yeo, Vivian Tse, Shing Po Chan, Gary Tse
The mouse is the second mammalian species, after the human, in which substantial amount of the genomic information has been analyzed. With advances in transgenic technology, mutagenesis is now much easier to carry out in mice. Consequently, an increasing number of transgenic mouse systems have been generated for the study of cardiac arrhythmias in ion channelopathies and cardiomyopathies. Mouse hearts are also amenable to physical manipulation such as coronary artery ligation and transverse aortic constriction to induce heart failure, radiofrequency ablation of the AV node to model complete AV block and even implantation of a miniature pacemaker to induce cardiac dyssynchrony...
September 2016: IJC Heart & Vasculature
https://www.readbyqxmd.com/read/27761163/recent-advances-in-genetic-testing-and-counseling-for-inherited-arrhythmias
#13
Yuka Mizusawa
Inherited arrhythmias, such as cardiomyopathies and cardiac ion channelopathies, along with coronary heart disease (CHD) are three most common disorders that predispose adults to sudden cardiac death. In the last three decades, causal genes in inherited arrhythmias have been successfully identified. At the same time, it has become evident that the genetic architectures are more complex than previously known. Recent advancements in DNA sequencing technology (next generation sequencing) have enabled us to study such complex genetic traits...
October 2016: Journal of Arrhythmia
https://www.readbyqxmd.com/read/27761160/atrial-arrhythmias-in-inherited-arrhythmogenic-disorders
#14
Can Hasdemir
Atrial arrhythmias are being increasingly recognized in inherited arrhythmogenic disorders particularly in patients with Brugada syndrome and short QT syndrome. Atrial arrhythmias in inherited arrhythmogenic disorders have significant epidemiologic, clinical, and prognostic implications. There has been progress in the understanding of underlying genetic characteristics and the mechanistic link between atrial arrhythmias and inherited arrhythmogenic disorders. Appropriate management of these patients is of paramount importance...
October 2016: Journal of Arrhythmia
https://www.readbyqxmd.com/read/27761159/molecular-autopsy-in-victims-of-inherited-arrhythmias
#15
Christopher Semsarian, Jodie Ingles
Sudden cardiac death (SCD) is a rare but devastating complication of a number of underlying cardiovascular diseases. While coronary artery disease and acute myocardial infarction are the most common causes of SCD in older populations, inherited cardiac disorders comprise a substantial proportion of SCD cases aged less than 40 years. Inherited cardiac disorders include primary inherited arrhythmogenic disorders such as familial long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and inherited cardiomyopathies, most commonly hypertrophic cardiomyopathy (HCM)...
October 2016: Journal of Arrhythmia
https://www.readbyqxmd.com/read/27761158/inherited-bradyarrhythmia-a-diverse-genetic-background
#16
Taisuke Ishikawa, Yukiomi Tsuji, Naomasa Makita
Bradyarrhythmia is a common heart rhythm abnormality comprising number of diseases and is associated with decreased heart rate due to the failure of action potential generation and propagation at the sinus node. Permanent pacemaker implantation is often used therapeutically to compensate for decreased heart rate and cardiac output. The vast majority of bradyarrhythmia cases are attributable either to aging or to structural abnormalities of the cardiac conduction system, caused by underlying structural heart disease...
October 2016: Journal of Arrhythmia
https://www.readbyqxmd.com/read/27742809/a-frameshift-deletion-in-the-sarcomere-gene-myl4-causes-early-onset-familial-atrial-fibrillation
#17
Daniel F Gudbjartsson, Hilma Holm, Patrick Sulem, Gisli Masson, Asmundur Oddsson, Olafur Th Magnusson, Jona Saemundsdottir, Hafdis Th Helgadottir, Hannes Helgason, Hrefna Johannsdottir, Solveig Gretarsdottir, Sigurjon A Gudjonsson, Inger Njølstad, Maja-Lisa Løchen, Larry Baum, Ronald C W Ma, Gunnlaugur Sigfusson, Augustine Kong, Guðmundur Thorgeirsson, Jon Th Sverrisson, Unnur Thorsteinsdottir, Kari Stefansson, David O Arnar
AIMS: Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia in man, causing substantial morbidity and mortality with a major worldwide public health impact. It is increasingly recognized as a highly heritable condition. This study aimed to determine genetic risk factors for early-onset AF. METHODS AND RESULTS: We sequenced the whole genomes of 8453 Icelanders and imputed genotypes of the 25.5 million sequence variants we discovered into 1799 Icelanders with early-onset AF (diagnosed before 60 years of age) and 337 453 controls...
October 14, 2016: European Heart Journal
https://www.readbyqxmd.com/read/27681629/early-somatic-mosaicism-is-a-rare-cause-of-long-qt-syndrome
#18
James Rush Priest, Charles Gawad, Kristopher M Kahlig, Joseph K Yu, Thomas O'Hara, Patrick M Boyle, Sridharan Rajamani, Michael J Clark, Sarah T K Garcia, Scott Ceresnak, Jason Harris, Sean Boyle, Frederick E Dewey, Lindsey Malloy-Walton, Kyla Dunn, Megan Grove, Marco V Perez, Norma F Neff, Richard Chen, Katsuhide Maeda, Anne Dubin, Luiz Belardinelli, John West, Christian Antolik, Daniela Macaya, Thomas Quertermous, Natalia A Trayanova, Stephen R Quake, Euan A Ashley
Somatic mosaicism, the occurrence and propagation of genetic variation in cell lineages after fertilization, is increasingly recognized to play a causal role in a variety of human diseases. We investigated the case of life-threatening arrhythmia in a 10-day-old infant with long QT syndrome (LQTS). Rapid genome sequencing suggested a variant in the sodium channel NaV1.5 encoded by SCN5A, NM_000335:c.5284G > T predicting p.(V1762L), but read depth was insufficient to be diagnostic. Exome sequencing of the trio confirmed read ratios inconsistent with Mendelian inheritance only in the proband...
October 11, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27676163/sudden-cardiac-arrest-due-to-a-single-sodium-channel-mutation-producing-a-mixed-phenotype-of-brugada-and-long-qt3-syndromes
#19
U Lakshmanadoss, A Mertens, M Gallagher, I Kutinsky, B Williamson
Inherited arrhythmia syndromes are a known, albeit rare, cause of sudden cardiac arrest which may present with characteristic electrocardiogram changes in patients with structurally normal heart. There are a variety of distinct arrhythmogenic syndromes that arise from mutations in voltage gated sodium channels, resulting in either gain or loss of function. We describe a patient with a primary inherited arrhythmia syndrome which presented as sudden cardiac arrest. Further workup revealed that her arrest was due to a combination of Brugada syndrome and Long QT3 syndrome secondary to a deleterious mutation of voltage-gated, sodium channel, type V alpha subunit (SCN5A Thr1709Met)...
March 2016: Indian Pacing and Electrophysiology Journal
https://www.readbyqxmd.com/read/27635072/cardiac-abnormalities-in-first-degree-relatives-of-unexplained-cardiac-arrest-victims-a-report-from-the-cardiac-arrest-survivors-with-preserved-ejection-fraction-registry
#20
Christian Steinberg, Gareth J Padfield, Jean Champagne, Shubhayan Sanatani, Paul Angaran, Jason G Andrade, Jason D Roberts, Jeffrey S Healey, Vijay S Chauhan, David H Birnie, Mikyla Janzen, Brenda Gerull, George J Klein, Richard Leather, Christopher S Simpson, Colette Seifer, Mario Talajic, Martin Gardner, Andrew D Krahn
BACKGROUND: Unexplained cardiac arrest (UCA) may be explained by inherited arrhythmia syndromes. The Cardiac Arrest Survivors With Preserved Ejection Fraction Registry prospectively assessed first-degree relatives of UCA or sudden unexplained death victims to screen for cardiac abnormalities. METHODS AND RESULTS: Around 398 first-degree family members (186 UCA, 212 sudden unexplained death victims' relatives; mean age, 44±17 years) underwent extensive cardiac workup, including ECG, signal averaged ECG, exercise testing, cardiac imaging, Holter-monitoring, and selective provocative drug testing with epinephrine or procainamide...
September 2016: Circulation. Arrhythmia and Electrophysiology
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