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Sudden death syndrome

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https://www.readbyqxmd.com/read/28534967/whole%C3%A2-exome-sequencing-identifies-a-novel-mutation-r367g-in-scn5a-to-be-associated-with-familial-cardiac-conduction-disease
#1
Rong Yu, Xue-Feng Fan, Chan Chen, Zheng-Hua Liu
Cardiac conduction disease is a primary cause of sudden cardiac death. Sodium voltage‑gated channel‑α subunit 5 (SCN5A) mutations have been reported to underlie a variety of inherited arrhythmias. Numerous disease‑causing mutations of SCN5A have been identified in patients with ≥10 different conditions, including type 3 long‑QT syndrome and Brugada syndrome. The present study investigated a family with a history of arrhythmia, with the proband having a history of arrhythmia and syncope. Whole‑exome sequencing was applied in order to detect the disease‑causing mutation in this family, and Sanger sequencing was used to confirm the co‑segregation among the family members...
May 17, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28532586/the-role-of-genetics-in-primary-ventricular-fibrillation-inherited-channelopathies-and-cardiomyopathies
#2
Lia Crotti, Maria-Christina Kotta
Sudden cardiac death (SCD) has a strong familial component; however, our understanding of its genetic basis varies significantly according to the underlying causes. When coronary artery disease is involved, the predisposing genetic background is complex and despite some interesting findings it remains largely unknown. Quite different is the case of monogenic structural and non-structural heart diseases, in which a number of disease-causing genes have been established and are being used in clinical practice...
June 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28523857/arrhythmia-burden-and-related-outcomes-in-eisenmenger-syndrome
#3
Shankar Baskar, Philippa Horne, Samantha Fitzsimmons, Philip R Khoury, Joseph Vettukattill, Koichiro Niwa, Teiji Agaki, Mark Spence, Hisanori Sakazaki, Gruschen Veldtman
BACKGROUND: Patients with Eisenmenger syndrome have a shorter lifespan than the general population. A significant proportion develop arrhythmia and some, sudden death. OBJECTIVE: The aims of this study were to characterize the frequency, type and effects of arrhythmias in adult patients with Eisenmenger's syndrome and to identify risk factors for arrhythmias. METHODS: This retrospective study included patients aged ≥ 18 years of age with Eisenmenger's syndrome from three institutions...
May 19, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28520325/-newborn-infants-first-outpatient-visit
#4
V Rigo, C Pieltain, C Schoffeniels, M Kalenga, J L Belche
The focus on outpatient follow-up of newborn infants increases as the duration of hospital stay after birth decreases. The first outpatient visit addresses the adequacy of the home transition. Appropriate feedings are checked. Sudden infant death syndrome prevention and security advices are reminded. Realisation of both neonatal dried blood screen and hearing test is confirmed, as well as planning of specific follow-up appointments. The physical exam will focus on red flags for diseases or malformations with a delayed presentation...
May 2017: Revue Médicale de Liège
https://www.readbyqxmd.com/read/28520217/the-gene-encoding-the-inwardly-rectifying-potassium-channel-kir4-1-may-be-involved-in-sudden-infant-death-syndrome
#5
Siri H Opdal, Åshild Vege, Arne Stray-Pedersen, Torleiv O Rognum
AIM: Disturbances in brain function and development may play a role in sudden infant death syndrome (SIDS). This Norwegian study aimed to test the hypothesis that specific variants of genes involved in water transport and potassium homeostasis would be predisposing factors for SIDS. METHODS: Genetic variation in the genes encoding aquaporin-4 (AQP4), Kir4.1 (KCNJ10) and α-syntrophin were analysed in 171 SIDS cases (62.6% male) with a median age of 15.5 (2-52) weeks and 398 adult controls (70...
May 18, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28509891/spontaneous-coronary-artery-dissection-a-review-of-pathogenesis-presentations-treatment-and-outcomes
#6
Aasim Afzal, Syed Sarmast, James W Choi, Peter A McCullough, Jeffrey M Schussler
Spontaneous coronary artery dissection (SCAD) is a rare cause of acute coronary syndromes and sudden cardiac death. The epidemiology, pathogenesis, and optimal approaches to diagnosis and management are poorly understood. Additionally, SCAD as a syndrome is commonly under-recognized and its prognosis is not well studied. Guidelines on management of SCAD have not yet been established. We present three cases of SCAD that varied in their clinical presentation and describe the different management strategies utilized...
2017: Reviews in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28506824/hypoxia-and-nicotine-effects-on-pituitary-adenylate-cyclase-activating-polypeptide-pacap-and-its-receptor-1-pac1-in-the-developing-piglet-brainstem
#7
J Huang, K A Waters, R Machaalani
Pituitary adenylate cyclase activating polypeptide (PACAP) and its cognate receptor 1 (PAC1), have been implicated in the pathophysiology of the Sudden Infant Death Syndrome (SIDS). Two main risk factors for SIDS are prone sleeping and cigarette smoke exposure. Using piglet models of these risk factors, intermittent hypercapnic hypoxia (IHH-mimicking rebreathing in prone position) and nicotine (main reinforcing element of cigarettes), this study aimed to determine their effects on PACAP and PAC1 protein expression in the medulla...
May 12, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/28496938/brugada-syndrome-risk-stratification-and-management
#8
REVIEW
Yoshifusa Aizawa
The Brugada syndrome (BrS) is an arrhythmogenic disease associated with an increased risk of ventricular fibrillation and sudden cardiac death. The risk stratification and management of BrS patients, particularly of asymptomatic ones, still remains challenging. A previous history of aborted sudden cardiac death or arrhythmic syncope in the presence of spontaneous type 1 ECG pattern of BrS phenotype appear to be the most reliable predictors of future arrhythmic events. Several other ECG parameters have been proposed for risk stratification...
October 2016: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/28494446/mutation-load-of-multiple-ion-channel-gene-mutations-in-brugada-syndrome
#9
Francesca Gualandi, Fatima Zaraket, Michele Malagù, Giulia Parmeggiani, Cecilia Trabanelli, Sergio Fini, Xiao Dang, Xiaoming Wei, Mingyan Fang, Matteo Bertini, Roberto Ferrari, Alessandra Ferlini
Brugada syndrome is a primary arrhythmic syndrome that accounts for 20% of all sudden cardiac death cases in individuals with a structurally normal heart. Pathogenic variants associated with Brugada syndrome have been identified in over 19 genes, with SCN5A as a pivotal gene accounting for nearly 30% of cases. In contrast to other arrhythmogenic channelopathies (such as long QT syndrome), digenic inheritance has never been reported in Brugada syndrome. Exploring 66 cardiac genes using a new custom next-generation sequencing panel, we identified a double heterozygosity for pathogenic mutations in SCN5A and TRPM4 in a Brugada syndrome patient...
May 12, 2017: Cardiology
https://www.readbyqxmd.com/read/28493952/a-mutation-in-the-cacna1c-gene-leads-to-early-repolarization-syndrome-with-incomplete-penetrance-a-chinese-family-study
#10
Xin Liu, Yang Shen, Jinyan Xie, Huihui Bao, Qing Cao, Rong Wan, Xiaoming Xu, Hui Zhou, Lin Huang, Zhenyan Xu, Wengen Zhu, Jinzhu Hu, Xiaoshu Cheng, Kui Hong
BACKGROUND: Early repolarization syndrome (ERS) may be a near-Mendelian or an oligogenic disease; however, no direct evidence has been provided to support this theory. METHODS AND RESULTS: We described a large Chinese family with nocturnal sudden cardiac death induced by ERS in most of the young male adults. One missense mutation (p.Q1916R) was found in the major subunit of the L-type calcium channel gene CACNA1C by the direct sequencing of candidate genes. A concomitant gain-of-function variant in the sodium channel gene SCN5A (p...
2017: PloS One
https://www.readbyqxmd.com/read/28492156/electrical-storm-or-naxos-syndrome-in-an-adult-causing-recurrent-syncope
#11
Muhammad Furrakh Maqbool, Muhammad Sajid, Ahmed Noeman
Among the rare and well-known causes of sudden cardiac death by malignant arrthymias is a condition called arrhythmogenic right ventricular cardiomyopathy. It commonly presents with right ventricular dilatation, dysfunction and ventricular tachycardia of left bundle branch morphology due to fibro-fatty infiltration of right ventricle in second to fifth decade of life, making it an unrecognized and important cause of sudden cardiac death. Two rare variants of arrhythmogenic right ventricular cardiomyopathy are Carvajal syndrome and Naxos syndrome...
April 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28491789/resuscitated-sudden-cardiac-death-due-to-diminutive-coronary-artery-syndrome
#12
T Raymond Foley, Mori J Krantz
No abstract text is available yet for this article.
February 2017: HeartRhythm Case Reports
https://www.readbyqxmd.com/read/28486839/brugada-syndrome-and-the-story-of-dave
#13
Samira Kashinath Dhamapurkar, Barbara A Wilson, Anita Rose, Gerhard Florschutz
Brugada syndrome (BrS) is a little known genetic condition that causes severe disturbances in cardiac rhythm and may result in sudden unexpected cardiac death in an apparently healthy person. The heart structure is typically normal but there are problems with electrical activity. The syndrome is named after Spanish brothers who are cardiologists, Pedro and Josep Brugada. BrS is the major cause of sudden unexplained death syndrome (SUDS), also known as sudden arrhythmic death syndrome (SADS). Following a description of the syndrome, including its prevalence and incidence, how it is diagnosed and how it can be treated, we consider those who survive a cardiac arrest and what problems they may face...
May 10, 2017: Neuropsychological Rehabilitation
https://www.readbyqxmd.com/read/28484840/epidemiology-of-ventricular-tachyarrhythmia-any-changes-in-the-past-decades
#14
REVIEW
Benjamin Jong-Ming Pang, Martin Stephen Green
Ventricular tachyarrhythmias include potentially lethal episodes of sustained ventricular tachycardia (VT) and ventricular fibrillation (VF) as well as hemodynamically tolerated ventricular ectopic activity. Sustained VT or VF may develop in the setting of acute myocardial infarction or as clinical sequelae of advanced cardiomyopathy. The incidence of these serious arrhythmias is estimated from retrospective and observational studies and registries of sudden cardiac arrest and sudden cardiac death. Over the past few decades, there has been a gradual decline in the incidence of life-threatening ventricular tachyarrhythmias which has been largely driven by upstream treatments for and prevention of coronary artery disease and its sequelae...
May 8, 2017: Herzschrittmachertherapie & Elektrophysiologie
https://www.readbyqxmd.com/read/28479512/long-term-prognosis-of-drug-induced-brugada-syndrome
#15
Juan Sieira, Giuseppe Ciconte, Giulio Conte, Carlo de Asmundis, Gian-Battista Chierchia, Giannis Baltogiannis, Giacomo Di Giovanni, Yukio Saitoh, Ruben Casado-Arroyo, Justo Juliá, Mark La Meir, Francis Wellens, Kristel Wauters, Gudrun Pappaert, Pedro Brugada
BACKROUND: Patients with a drug-induced Brugada syndrome (BS) are considered at a lower risk than those with the spontaneous type I pattern. Nevertheless, they can present arrhythmic events. OBJECTIVE: The purpose of this study was to investigate their clinical characteristics, long-term prognosis and risk factors. METHODS: A consecutive cohort of 343 drug-induced BS patients was included and compared to 78 with spontaneous type I pattern...
May 4, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28472724/relevance-of-molecular-testing-in-patients-with-a-family-history-of-sudden-death
#16
Silke Kauferstein, Nadine Herz, Stefanie Scheiper, Stephanie Biel, Tina Jenewein, Malte Kunis, Damir Erkapic, Britt-Maria Beckmann, Thomas Neumann
Sudden cardiac death (SCD) is a major cause of death in industrial countries. Although SCD occurs mainly in adults, it may also affect young persons, where genetic cardiac disorders comprise at least half of these cases. This includes primary arrhythmogenic disorders such as long QT syndrome and inherited cardiomyopathies. However, in many cases, postmortem examinations provide no conclusive results explaining the cause of death. Since family members of the deceased may eventually have inherited the same disease, they are at risk of SCD...
April 13, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28469493/beyond-the-electrocardiogram-mutations-in-cardiac-ion-channel-genes-underlie-nonarrhythmic-phenotypes
#17
REVIEW
Thomas M Roston, Taylor Cunningham, Anna Lehman, Zachary W Laksman, Andrew D Krahn, Shubhayan Sanatani
Cardiac ion channelopathies are an important cause of sudden death in the young and include long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, idiopathic ventricular fibrillation, and short QT syndrome. Genes that encode ion channels have been implicated in all of these conditions, leading to the widespread implementation of genetic testing for suspected channelopathies. Over the past half-century, researchers have also identified systemic pathologies that extend beyond the arrhythmic phenotype in patients with ion channel gene mutations, including deafness, epilepsy, cardiomyopathy, periodic paralysis, and congenital heart disease...
2017: Clinical Medicine Insights. Cardiology
https://www.readbyqxmd.com/read/28453621/prevalence-of-malignant-arrhythmia-and-sudden-cardiac-death-in-takotsubo-syndrome-and-its-management
#18
Ibrahim El-Battrawy, Siegfried Lang, Uzair Ansari, Erol Tülümen, Katja Schramm, Christian Fastner, Xiaobo Zhou, Ursula Hoffmann, Martin Borggrefe, Ibrahim Akin
Aims: Recent studies have highlighted that takotsubo syndrome (TTS) is associated with a poor clinical outcome. Our study was conducted to determine the short- and long-term prevalence, recurrence rate and impact of life-threatening arrhythmias (LTA) on the clinical outcome of TTS. Methods and results: Our institutional database constituted a collective of 114 patients diagnosed with TTS between 2003 and 2015. The patient groups, divided according to the presence (n = 13, 11...
April 26, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28450386/update-on-congenital-heart-disease-and-sudden-infant-perinatal-death-from-history-to-future-trends
#19
REVIEW
Giulia Ottaviani, L Maximilian Buja
During the 20th century, expert pathologists contributed an in-depth characterisation of the anatomical pathology and associated pathophysiology of congenital heart disease (CHD). Starting in the 1970s, the reported CHD birth prevalence has been increasing, owing to advances in diagnostic methods. Over the years, surgical treatments have been associated with an enormous reduction of CHD mortality. Advances also have been made in understanding the developmental biology and molecular pathogenesis of CHD. In developed countries, sudden infant death syndrome (SIDS) is the most frequent form of death during the first year of life, with a death rate of 0...
April 27, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28449906/low-cerebrospinal-fluid-hypocretin-levels-during-sudden-infant-death-syndrome-sids-risk-period
#20
Marion Lancien, Clara Odilia Inocente, Yves Dauvilliers, Beatrice Kugener, Sabine Scholz, Veronique Raverot, Jian-Sheng Lin, Aurore Guyon, Marie-Paule Gustin, Patricia Franco
OBJECTIVES: The temporal association between sudden infant death syndrome (SIDS) and sleep suggests that the arousability from sleep provides a protective mechanism for survival. Recently, the hypocretin system, which promotes wakefulness, has been implicated in SIDS, since it has been reported that SIDS victims have fewer hypocretin neurons than infants who have died from other causes. To understand the role of hypocretin in SIDS, it is essential to better understand how this system matures...
May 2017: Sleep Medicine
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