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Sudden death syndrome

Fiona M Bright, Robert Vink, Roger W Byard
Victims of sudden infant death syndrome (SIDS) are believed to have an underlying dysfunction in medullary homeostatic control that impairs critical responses to life threatening challenges such as hypoxia, hypercarbia and asphyxia, often during a sleep period. This failure is thought to result from abnormalities in a network of neural pathways in the medulla oblongata that control respiration, chemosensitivity, autonomic function and arousal. Studies have mainly focused on the role of serotonin, 5-hydroxytyptamine (5HT), although the neuropeptide substance P (SP) has also been shown to play an integral role in the modulation of medullary homeostatic function, often in conjunction with 5-HT...
May 5, 2018: Neuropeptides
Graciane Radaelli, Francisco de Souza Santos, Wyllians Vendramini Borelli, Leonardo Pisani, Magda Lahorgue Nunes, Fulvio Alexandre Scorza, Jaderson Costa da Costa
INTRODUCTION: Early infantile epileptic encephalopathy syndrome (EIEE), also known as Ohtahara syndrome, is an age-dependent epileptic encephalopathy syndrome defined by clinical features and electroencephalographic findings. Epileptic disorders with refractory seizures beginning in the neonatal period and/or early infancy have a potential risk of premature mortality, including sudden death. We aimed to identify the causes of death in EIEE and conducted a literature survey of fatal outcomes...
June 12, 2018: Epilepsy & Behavior: E&B
Stefan Warpechowski Neto, Tiago Luiz Luz Leiria, Laura Lessa Gaudie Ley, Antonio Lessa Gaudie Ley, Luiza Zwan Dutra, Leonardo Martins Pires, Marcelo Lapa Kruse, Gustavo Glotz de Lima
BACKGROUND: Brugada syndrome (SBr) is an arrhythmic condition characterized by ST-T segment abnormalities in the right precordial leads associated with a high risk of ventricular arrhythmias and sudden death. Local data regarding the clinical characteristics of patients with a typical electrocardiographic (ECG) pattern undergoing electrophysiological study are scarce. OBJECTIVE: To evaluate patients with an ECG pattern suggestive of SBr referred for electrophysiological evaluation in a specialized center...
June 11, 2018: Arquivos Brasileiros de Cardiologia
John R Giudicessi, Michael J Ackerman
BACKGROUND: Sudden cardiac arrest (SCA) may be the sentinel expression of a sudden cardiac death-predisposing genetic heart disease (GHD). Although shown to underlie many unexplained SCAs in the young, the contribution of GHDs to sentinel SCA has never been quantified across the age spectrum. Thus, we sought to determine the contribution of GHDs in single-center referral cohort of non-ischemic SCA survivors. METHODS AND RESULTS: Retrospective analysis of 3037 patients was used to identify all individuals who experienced a sentinel event of SCA...
May 30, 2018: International Journal of Cardiology
Yasmine Houas, Fatma Fitouri, Mourad Hamzaoui
Fabricated and/or induced illness (previously known as Munchausen syndrome by proxy) is a form of child abuse in which the perpetrator induces, exaggerates or fabricates illness in his/her child. Two-month-old twins were referred to the paediatric surgery centre with trocar needles lodged in different organs. A radiograph undertaken in one of them because of acute respiratory distress demonstrated needles in the heart and diaphragm which were removed surgically. The second twin, referred one week after his brother, had a needle deep in his liver and it was decided not to operate owing to the possibility of haemorrhage but, sadly, he died unexpectedly and the autopsy concluded that it was owing to sudden infant death syndrome...
June 8, 2018: Paediatrics and International Child Health
Jon M Tuveng, Britt-Marie Berling, Gabor Bunford, Carlos G Vanoye, Richard C Welch, Trond P Leren, Alfred L George, Torleiv Ole Rognum
We report a case of a woman who experienced intrauterine fetal death at full term pregnancy, and then died suddenly soon after learning about the death of her fetus. At autopsy, previously undiagnosed neurofibromatosis and an adrenal gland pheochromocytoma were discovered in the mother. Genetic screening also revealed a novel KCNH2mutation in both fetus and mother indicating type 2 congenital long-QT syndrome (LQTS). A catecholamine surge was suspected as the precipitating event of fetal cardiac arrhythmia and sudden fetal death, while the addition of emotional stress provoked a lethal cardiac event in the mother...
June 8, 2018: Forensic Science, Medicine, and Pathology
Kenneth J Taubenslag, Hannah L Scanga, Jennifer Huey, Jennifer Lee, Anagha Medsinge, Christin L Sylvester, Kenneth P Cheng, Ken K Nischal
BACKGROUND: Central cysts of the iris pigment epithelium, or iris flocculi, are frequently reported in the literature in association with thoracic aortic aneurysm and dissection due to smooth muscle alpha-actin 2 ( ACTA2 ) mutations. Children with ACTA2 mutations may also present with congenital mydriasis. We report our experience regarding the frequency of ACTA2 mutation in children with the above iris anomalies. METHODS: This is a retrospective, consecutive case series of all children presenting for iris flocculi or congenital mydriasis at a single tertiary centre from October 2012 to December 2016...
June 6, 2018: British Journal of Ophthalmology
Kanika Singh, Ratna Dua Puri, Pratibha Bhai, Archana Dayal Arya, Garima Chawla, Renu Saxena, Ishwar C Verma
BACKGROUND: Triple A syndrome is characterized by achalasia, alacrima and adrenal insufficiency with neurological manifestations occurring later in the course of the disease. It occurs due to biallelic mutations in the AAAS gene which codes for the nuclear pore protein ALADIN. A number of other features have been reported over time in this heterogeneous and multisystemic disorder. Unlike other autosomal recessive disorders, triple A syndrome patients show a wide phenotypic variability both among different patients and family members harboring the same mutation(s)...
June 6, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Patricia B Munroe, Shea Addison, Dominic J Abrams, Neil J Sebire, James Cartwright, Ian Donaldson, Marta M Cohen, Charles Mein, Andrew Tinker, Stephen C Harmer, Qadeer Aziz, Anna Terry, Monika Struebig, Helen R Warren, Bhumita Vadgama, Darren J Fowler, Donald Peebles, Andrew M Taylor, Peter J Lally, Sudhin Thayyil
BACKGROUND: Although stillbirth is a significant health problem worldwide, the definitive cause of death remains elusive in many cases, despite detailed autopsy. In this study of partly explained and unexplained stillbirths, we used next-generation sequencing to examine an extended panel of 35 candidate genes known to be associated with ion channel disorders and sudden cardiac death. METHODS AND RESULTS: We examined tissue from 242 stillbirths (≥22 weeks), including those where no definite cause of death could be confirmed after a full autopsy...
January 2018: Circulation. Genomic and precision medicine
Alex Marzel, Katharina Kusejko, Rainer Weber, Philip Bruggmann, Andri Rauch, Jan A Roth, Enos Bernasconi, Alexandra Calmy, Matthias Cavassini, Matthias Hoffmann, Jürg Böni, Sabine Yerly, Thomas Klimkait, Matthieu Perreau, Huldrych F Günthard, Roger D Kouyos
Background: Human immunodeficiency virus (HIV) transmission among injecting drug users (IDUs) is increasing in the United States due to the recent opioid epidemic and is the leading mode of transmission in Eastern Europe. Methods: To evaluate the overall impact of HIV harm reduction, we combined (1) data from the Swiss HIV Cohort Study and public sources with (2) a mathematical model expressed as a system of ordinary differential equations. The model reconstructs the national epidemic from the first case in 1980 until 2015...
May 2018: Open Forum Infectious Diseases
Giselle G Gervacio, Jaime Alfonso Manalo Aherrera, Rody G Sy, Lauro L Abrahan Iv, Michael Joseph Agbayani, Felix Eduardo Punzalan, Elmer Jasper B Llanes, Paul Ferdinand M Reganit, Olivia T Sison, E Shyong Tai, Felicidad V Velandria, Allan Gumatay, Nina T Castillo-Carandang
Background: Brugada syndrome is the mechanism for sudden unexplained death. The Brugada ECG pattern is found in 2% of Filipinos. There is a knowledge gap on the clinical outcome of these individuals. The clinical profile and 5-year cardiac event rate of individuals with the Brugada ECG pattern were determined in this cohort. Methods: This is a sub-study of LIFECARE (Life Course Study in Cardiovascular Disease Epidemiology), a community based cohort enrolling healthy individuals 20 to 50 years old conducted in 2009-2010...
2018: Heart Asia
Simin Deng, Tong Xu, Qiong Fang, Lei Yu, Jiaqi Zhu, Long Chen, Jiahui Liu, Rui Zhou
Streptococcus suis is an emerging zoonotic pathogen causing streptococcal toxic shock like syndrome (STSLS), meningitis, septicemia, and even sudden death in human and pigs. Serious septicemia indicates this bacterium can evade the host complement surveillance. In our previous study, a functionally unknown protein SntA of S. suis has been identified as a heme-binding protein, and contributes to virulence in pigs. SntA can interact with the host antioxidant protein AOP2 and consequently inhibit its antioxidant activity...
2018: Frontiers in Immunology
Peng-Lin Jia, Yue-Bing Wang, Hua Fu, Wen-Li Huang, Shu-Rong Zhong, Lin Ma, Yu-Hua Li, Yi Dong, Zhong-Chun Sun, Lin Yang, Peng-Fei Qu, Su Zhao, Yong-Qiang Qu, Yan-Mei Xi, Shang-Wen Wang, Xue Tang, Pu-Ping Lei
Long QT syndrome (LQTS) is known to be involved in some sudden unexplained death (SUD) cases. To make clear whether the pathogenic genes of LQTS are involved in SUD in Yunnan province, southwest of China, we examined 4 mutation hotspot segments of KCNQ1, KCNH2, and SCN5A genes in 83 SUD cases using polymerase chain reaction and direct DNA sequencing. Genomic DNA was extracted from paraffin-embedded tissues in 83 cases of sudden cardiac death. One novel homozygous missense variant was identified in exon 3 of KCNQ1, c...
May 31, 2018: American Journal of Forensic Medicine and Pathology
Wasawat Vutthikraivit, Pattara Rattanawong, Prapaipan Putthapiban, Weera Sukhumthammarat, Prin Vathesatogkit, Tachapong Ngarmukos, Ammarin Thakkinstian
Background: Brugada syndrome (BrS) is considered to be an inherited arrhythmic disease associated with fatal complications and premature sudden unexpected death. The prevalence of the Brugada electrocardiogram pattern (BrP) has been reported in several countries. Nonetheless, the specific worldwide prevalence of BrS has not been reported. Objective: We estimated the worldwide prevalence of BrS and Type-2/3 BrP in general adult populations using a systematic review and meta-analysis of the existing literature...
May 2018: Acta Cardiologica Sinica
Athanasios Bakalakos, Konstantinos Ritsatos, Aris Anastasakis
Left ventricular enlargement and dysfunction are fundamental components of dilated cardiomyopathy. Dilated cardiomyopathy is a major cause of heart failure and cardiac transplantation. A wide variety of etiologies underlie acquired and familial DCM. Familial disease is reported in 20% to 35% of cases. A genetic substrate is recognized in at least 30% of familial cases. A recently proposed scheme, defines DCM as a continuum of subclinical and clinical phenotypes. The evolution of classification systems permitted use of effective treatment strategies in disorders sharing same structural and functional characteristics and common clinical expression...
May 25, 2018: Hellenic Journal of Cardiology: HJC, Hellēnikē Kardiologikē Epitheōrēsē
J Rohana, Shareena Ishak, W M Z Wan Nurulhuda
BACKGROUND: Preterm infants are at higher risk of having Sudden Infant Death Syndrome (SIDS) compared to term born infants and the risk is inversely related to the gestational age and birth weight. Parents of these infants should have adequate knowledge and practise the recommended SIDS risk reduction measures. METHODS: A survey was conducted between December 2016 and August 2017 at Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur. Parents of preterm infants of ≤36 weeks' gestation were invited to answer a self-administered questionnaire to assess their knowledge and practice regarding SIDS risk reduction...
May 27, 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
Audrey-Ann M Evetts, Michael J Shkrum, Elena Tugaleva
Reference charts for body and organ measurements of neonates and infants were derived from data on 900 investigations done by the Office of the Chief Coroner for Ontario. The statistical analyses in this new reference source addressed deficiencies in sources currently available to pathologists.The present study also considered whether organ weights differed based on the classification of infant deaths using the original definition of either sudden infant death syndrome (SIDS) or sudden unexplained death (SUDS) which considers cases occurring in an unsafe sleeping environment or under adverse socioeconomic conditions...
May 24, 2018: American Journal of Forensic Medicine and Pathology
Iwona Mańka-Gaca, Beata Łabuz-Roszak, Agnieszka Machowska-Majchrzak
Mutations leading to disorders within ion (mainly potassium and sodium) channels, have different degrees of expression in the brain and in the heart, which can cause simultaneous occurrence of disorders in both organs. This is manifested by the occurrence of epileptic seizures and cardiac electrical disturbances, further exacerbated by stimulation of autonomic structures within the central nervous system. In all patients with unclear paroxysmal disorders, and in those with unexplained sudden cardiac death, consideration should be given to the possibility of occurrence of genetically determined disorders in the ion channels...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
João Português, Lucy Calvo, Filipa Canário-Almeida, Sílvia Ribeiro, Victor Sanfins, António Lourenço
No abstract text is available yet for this article.
May 18, 2018: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
Syed Raza Shah, Ki Park
Long QT syndrome (LQT) represents a heterogeneous family of cardiac electrophysiologic disorders characterized by QT prolongation and T-wave abnormalities on the electrocardiogram. It is commonly associated with syncope, however, sudden cardiac death can occur due to torsades de pointes. LQT is a clinical diagnosis and should be suspected in individuals on the basis of clinical presentation, family history and electrocardiogram characteristics. Management is focused on the prevention of syncope and ultimately sudden death...
May 10, 2018: Current Problems in Cardiology
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