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Inherited Arrhythmias

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https://www.readbyqxmd.com/read/29678777/a-10-year-review-of-sudden-death-during-sporting-activities
#1
Mark Dennis, Alexander Elder, Christopher Semsarian, John Orchard, Isabel Brouwer, Rajesh Puranik
BACKGROUND: Sudden death during sport is a rare but devastating event. Previous research has mostly focused on sudden deaths in young competitive athletes. OBJECTIVE: To characterise the demographics and aetiology of sudden cardiac death (SCD) during sport in Australia. METHODS: All autopsies conducted at our forensic medicine facility between the years 2006-2015 (inclusive) were reviewed. Sporting related deaths amongst those 7-65 years of age were identified...
April 17, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29668588/a-delayed-diagnosis-of-catecholaminergic-polymorphic-ventricular-tachycardia-with-a-mutant-of-ryr2-at-c-7580t-g-for-6-years-in-a-9-year-old-child
#2
Hongyu Duan, Yongyi Lu, Song Yan, Lina Qiao, Yimin Hua, Yifei Li, Kaiyu Zhou, Chuan Wang
RATIONALE: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but potentially lethal inherited arrhythmia syndrome induced by adrenergic stress. Due to the atypical clinical manifestations in early age, limited recognition and experience of pediatric cardiologists, and low awareness of the significance of genetic diagnosis in some underdeveloped areas in China, a delayed or missed diagnosis of CPVT in children is common and concerning. PATIENT CONCERNS: A 9-year and 3-month male child with recurrent exercise-induced syncope accompanied by convulsion was initially misdiagnosed as epilepsy since the first manifestation at the age of 3 years...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29650123/interplay-between-genetic-substrate-qtc-duration-and-arrhythmia-risk-in-patients-with-long-qt-syndrome
#3
Andrea Mazzanti, Riccardo Maragna, Gaetano Vacanti, Nicola Monteforte, Raffaella Bloise, Maira Marino, Lorenzo Braghieri, Patrick Gambelli, Mirella Memmi, Eleonora Pagan, Massimo Morini, Alberto Malovini, Martin Ortiz, Luciana Sacilotto, Riccardo Bellazzi, Lorenzo Monserrat, Carlo Napolitano, Vincenzo Bagnardi, Silvia G Priori
BACKGROUND: Long QT syndrome (LQTS) is a common inheritable arrhythmogenic disorder, often secondary to mutations in the KCNQ1, KCNH2, and SCN5A genes. The disease is characterized by a prolonged ventricular repolarization (QTc interval) that confers susceptibility to life-threatening arrhythmic events (LAEs). OBJECTIVES: This study sought to create an evidence-based risk stratification scheme to personalize the quantification of the arrhythmic risk in patients with LQTS...
April 17, 2018: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/29624510/genetic-risk-stratification-in-cardiac-arrhythmias
#4
Carlo Napolitano, Andrea Mazzanti, Silvia G Priori
PURPOSE OF REVIEW: The current article provides a concise summary of the possibilities and limitations of genotype-based risk stratification of cardiac arrhythmias. We will outline the most important findings of the recent years in the light of their chronological and conceptual development. RECENT FINDINGS: Genotype-phenotype association studies in families with single-gene disorders as well as in the general population led to the discovery of several DNA variants significantly associated with the risk of sudden death or life-threatening arrhythmias...
April 4, 2018: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/29619932/mortality-and-morbidity-in-patients-with-osteogenesis-imperfecta-in-denmark
#5
Lars Folkestad
Ostegenesis imperfecta (OI) is a hereditary disease of the connective tissue caused by mutations to, mainly, the genes that are involved in the biosynthesis of collagen type 1. Patients are grouped according to clinical severity and mode of inheritance according to Sillence's classification (originally 1979, updated 2014). According to our data, the population prevalence of OI in Denmark was 10.3 per 100,000, with 575 patients registered with an OI diagnosis in the National Patient Register and alive at the end of 2012 out of a total population of 5,602,628 persons...
April 2018: Danish Medical Journal
https://www.readbyqxmd.com/read/29598884/outcome-of-clinical-management-in-relatives-of-sudden-cardiac-death-victims
#6
Katrine M Müllertz, Morten K Christiansen, Anders K Broendberg, Lisbeth N Pedersen, Henrik K Jensen
BACKGROUND: International guidelines recommend clinical assessment of the surviving first-degree relatives of sudden cardiac death (SCD) victims to identify a probable cause of death and protect surviving relatives. Only few studies have reported the outcome of clinical management and follow-up of relatives to SCD victims. METHODS: We performed a retrospective cohort study of the clinical and genetic assessment of surviving relatives of SCD victims referred to the Clinic of Inherited Cardiac Diseases at Aarhus University Hospital, Denmark, between 1995 and 2016...
March 8, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29574140/copy-number-variations-of-scn5a-in-brugada-syndrome-scn5a-cnvs-in-brs
#7
Keiko Sonoda, Seiko Ohno, Junichi Ozawa, Mamoru Hayano, Tetsuhisa Hattori, Atsushi Kobori, Mitsuhiko Yahata, Isao Aburadani, Seiichi Watanabe, Yuichi Matsumoto, Takeru Makiyama, Minoru Horie
BACKGROUND: Loss-of-function mutations in SCN5A are associated in ∼20% of Brugada syndrome (BrS) patients. Copy number variations (CNVs) have been shown to be associated with several inherited arrhythmia syndromes. OBJECTIVE: We aimed to investigate SCN5A CNVs among BrS probands. METHODS: The study cohort consisted of 151 BrS probands who were symptomatic or had a family history of BrS, sudden death, syncope or arrhythmic diseases. We performed sequence analysis of SCN5A by Sanger method...
March 21, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29572196/familial-hypertrophic-cardiomyopathy-identification-of-cause-and-risk-stratification-through-exome-sequencing
#8
Amitabh Biswas, Soumi Das, Mitali Kapoor, Karuthedath Vellarikkal Shamsudheen, Rijith Jayarajan, Ankit Verma, Sandeep Seth, Balram Bhargava, Vinod Scaria, Sridhar Sivasubbu, V R Rao
BACKGROUND: Hypertrophic cardiomyopathy with variable clinical presentations and heterogeneity is the common cause of sudden cardiac death. Genetic diagnosis is challenging in these complex diseases but exome sequencing as a genetic diagnostic tool provides explainable results. METHODS: In a familial Hypertrophic cardiomyopathy with multigenerational inheritance with apparent phenotype, had a history of sudden death and severe arrhythmia followed by implantation of Implantable cardioverter defibrillator...
March 20, 2018: Gene
https://www.readbyqxmd.com/read/29568937/genetic-analysis-of-sick-sinus-syndrome-in-a-family-harboring-compound-cacna1c-and-ttn-mutations
#9
Yao-Bin Zhu, Jie-Wei Luo, Fen Jiang, Gui Liu
Sick sinus syndrome (SSS) is a sinus node dysfunction characterized by severe sinus bradycardia. SSS results in insufficient blood supply to the brain, heart, kidneys, and other organs and is associated with the increased risk of sudden cardiac death. Bradyarrhythmia appears in the absence of any associated cardiac pathology and displays a genetic legacy. The present study identified a family with primary manifestation of sinus bradycardia (five individuals) along with early repolarization (four individuals) and atrial fibrillation (one individual)...
March 16, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29558024/predictors-of-poor-outcome-in-patients-with-left-ventricular-noncompaction-review-of-the-literature
#10
REVIEW
Marcin Kubik, Alicja Dąbrowska-Kugacka, Ewa Lewicka, Ludmiła Daniłowicz-Szymanowicz, Grzegorz Raczak
Left ventricular noncompaction (LVNC) is a unique inherited cardiomyopathy, characterized by an increased risk of adverse cardiovascular events such as heart failure, arrhythmia or sudden cardiac death. Although in comparison to dilated cardiomyopathy, the number of clinical studies concerning LVNC is still small, it is quickly increasing, which reflects a huge effort of the cardiovascular society to develop data to improve understanding of this cardiomyopathy. However, the predictors of adverse outcomes in LVNC are not well established...
March 16, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29555974/successful-knock-in-of-hypertrophic-cardiomyopathy-mutation-r723g-into-the-myh7-gene-mimics-hcm-pathology-in-pigs
#11
J Montag, B Petersen, A K Flögel, E Becker, A Lucas-Hahn, G J Cost, C Mühlfeld, T Kraft, H Niemann, B Brenner
Familial Hypertrophic Cardiomyopathy (HCM) is the most common inherited cardiac disease. About 30% of the patients are heterozygous for mutations in the MYH7 gene encoding the ß-myosin heavy chain (MyHC). Hallmarks of HCM are cardiomyocyte disarray and hypertrophy of the left ventricle, the symptoms range from slight arrhythmias to sudden cardiac death or heart failure. To gain insight into the underlying mechanisms of the diseases' etiology we aimed to generate genome edited pigs with an HCM-mutation. We used TALEN-mediated genome editing and successfully introduced the HCM-point mutation R723G into the MYH7 gene of porcine fibroblasts and subsequently cloned pigs that were heterozygous for the HCM-mutation R723G...
March 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29544603/the-diagnostic-yield-of-brugada-syndrome-after-sudden-death-with-normal-autopsy
#12
Michael Papadakis, Efstathios Papatheodorou, Greg Mellor, Hariharan Raju, Rachel Bastiaenen, Yanushi Wijeyeratne, Sara Wasim, Bode Ensam, Gherardo Finocchiaro, Belinda Gray, Aneil Malhotra, Andrew D'Silva, Nina Edwards, Della Cole, Virginia Attard, Velislav N Batchvarov, Maria Tome-Esteban, Tessa Homfray, Mary N Sheppard, Sanjay Sharma, Elijah R Behr
BACKGROUND: Familial evaluation after a sudden death with negative autopsy (sudden arrhythmic death syndrome; SADS) may identify relatives at risk of fatal arrhythmias. OBJECTIVES: This study aimed to assess the impact of systematic ajmaline provocation testing using high right precordial leads (RPLs) on the diagnostic yield of Brugada syndrome (BrS) in a large cohort of SADS families. METHODS: Three hundred three SADS families (911 relatives) underwent evaluation with resting electrocardiogram using conventional and high RPLs, echocardiography, exercise, and 24-h electrocardiogram monitor...
March 20, 2018: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/29536313/value-of-implantable-loop-recorders-in-patients-with-structural-or-electrical-heart-disease
#13
Rafi Sakhi, Dominic A M J Theuns, Rohit E Bhagwandien, Michelle Michels, Arend F L Schinkel, Tamas Szili-Torok, F Zijlstra, Jolien W Roos-Hesselink, Sing-Chien Yap
PURPOSE: In patients with structural heart disease (SHD) or inherited primary arrhythmia syndrome (IPAS), the occurrence of unexplained syncope or palpitations can be worrisome as they are at increased risk of sudden cardiac death. An implantable loop recorder (ILR) can be a useful diagnostic tool. Our purpose was to compare the diagnostic yield, arrhythmia mechanism, and management in patients with SHD, patients with IPAS, and those without heart disease. METHODS: Retrospective single-center study in consecutive patients who underwent an ILR implantation...
March 13, 2018: Journal of Interventional Cardiac Electrophysiology: An International Journal of Arrhythmias and Pacing
https://www.readbyqxmd.com/read/29528859/emerging-implications-of-genetic-testing-in-inherited-primary-arrhythmia-syndromes
#14
Babken Asatryan, Argelia Medeiros-Domingo
Inherited primary arrhythmia syndromes are genetically determined disorders of cardiac ion channels or ion channel macromolecular complexes usually associated with a higher risk of sudden cardiac death. These conditions have a very broad spectrum of clinical manifestations, ranging from an asymptomatic course to syncope, atrial and ventricular arrhythmias, and conduction disturbances, but may produce sudden infant death syndrome and unexplained sudden cardiac death in apparently healthy individuals. During the last 20 years, the evolving knowledge on the genetic basis of inherited arrhythmia syndromes has dramatically reshaped our understanding of these conditions and, consequently, had a great impact on patient care...
March 8, 2018: Cardiology in Review
https://www.readbyqxmd.com/read/29525648/diagnostic-criteria-genetics-and-molecular-basis-of-arrhythmogenic-cardiomyopathy
#15
REVIEW
Cristina Basso, Kalliopi Pilichou, Barbara Bauce, Domenico Corrado, Gaetano Thiene
Arrhythmogenic cardiomyopathy (AC) is an inherited heart muscle disease characterized by myocardial atrophy and fibrofatty replacement of the ventricular myocardium, at risk of sudden cardiac death, particularly in the young and athletes. Because there is no "gold standard" to reach the diagnosis of AC, multiple categories of diagnostic information have been combined, including imaging, electrocardiographic changes, arrhythmias, tissue characterization, and family history. However, the routine use of contrast-enhanced cardiac magnetic resonance increasingly revealed left dominant AC, a variant that is not well addressed in the diagnostic criteria and still escapes clinical identification...
April 2018: Heart Failure Clinics
https://www.readbyqxmd.com/read/29522173/loss-of-cardiac-wnt-%C3%AE-catenin-signalling-in-desmoplakin-deficient-ac8-zebrafish-models-is-rescuable-by-genetic-and-pharmacological-intervention
#16
Alice Giuliodori, Giorgia Beffagna, Giulia Marchetto, Chiara Fornetto, Francesco Vanzi, Stefano Toppo, Nicola Facchinello, Mattia Santimaria, Andrea Vettori, Stefania Rizzo, Mila Della Barbera, Kalliopi Pilichou, Francesco Argenton, Gaetano Thiene, Natascia Tiso, Cristina Basso
Aims: Arrhythmogenic cardiomyopathy (AC) is an inherited heart disease characterized by life-threatening ventricular arrhythmias and fibro-fatty replacement of the myocardium. More than 60% of AC patients show pathogenic mutations in genes encoding for desmosomal proteins. By focusing our attention on the AC8 form, linked to the junctional protein Desmoplakin (DSP), we present here a zebrafish model of DSP deficiency, exploited to identify early changes of cell signalling in the cardiac region...
March 7, 2018: Cardiovascular Research
https://www.readbyqxmd.com/read/29514831/cardiac-kir2-1-and-na-v-1-5-channels-traffic-together-to-the-sarcolemma-to-control-excitability
#17
Daniela Ponce-Balbuena, Guadalupe Guerrero-Serna, Carmen R Valdivia, Ricardo Caballero, F J Díez-Guerra, Eric N Jiménez-Vázquez, Rafael J Ramirez, Andre Monteiro da Rocha, Todd J Herron, Katherine F Campbell, B C Willis, Francisco J Alvarado, Manuel Zarzoso, Kuljeet Kaur, Marta Pérez-Hernández, Marcos Matamoros, Héctor H Valdivia, Eva Delpón, José Jalife
<u>Rationale:</u> In cardiomyocytes, NaV 1.5 and Kir2.1 channels interact dynamically as part of membrane bound macromolecular complexes. <u>Objective:</u> To test whether NaV 1.5 and Kir2.1 preassemble during early forward trafficking and travel together to common membrane microdomains. <u>Methods and Results:</u> In patch-clamp experiments, co-expression of trafficking deficient mutants Kir2.1Δ314-315 or Kir2.1R44A/R46A with wildtype (WT) NaV 1.5WT in heterologous cells reduced INa , compared to NaV 1...
March 7, 2018: Circulation Research
https://www.readbyqxmd.com/read/29495624/ion-channel-disorders-and-sudden-cardiac-death
#18
REVIEW
Anna Garcia-Elias, Begoña Benito
Long QT syndrome, short QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia are inherited primary electrical disorders that predispose to sudden cardiac death in the absence of structural heart disease. Also known as cardiac channelopathies, primary electrical disorders respond to mutations in genes encoding cardiac ion channels and/or their regulatory proteins, which result in modifications in the cardiac action potential or in the intracellular calcium handling that lead to electrical instability and life-threatening ventricular arrhythmias...
February 28, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29489690/a-case-report-of-brugada-like-st-segment-elevation-probably-due-to-coronary-vasospasm
#19
Lu Yang, Guodong Ma, Tianyu Yu, Huikuan Gao, Yongliang Wang, Yongquan Wu
RATIONALE: Vasospastic angina is caused by sudden occlusive vasoconstriction of a segment of an epicardial artery, with transient ST-segment elevation on electrocardiography. Brugada Syndrome is an inherited arrhythmogenic cardiac disorder with a diagnostic electrocardiography characterized by coved-type ST-segment elevation in right precordial leads (V1-V3). Those two diseases usually have no correlation. In this report, we discuss an interesting case of a patient who was diagnosed as vasospastic angina according to his coronary angiography, but his electrocardiography showed a Brugada-like ST-segment elevation...
March 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29457789/a-common-variant-alters-scn5a-mir-24-interaction-and-associates-with-heart-failure-mortality
#20
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...
March 1, 2018: Journal of Clinical Investigation
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