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https://www.readbyqxmd.com/read/29132927/whole-exome-sequencing-identified-a-pathogenic-mutation-in-ryr2-in-a-chinese-family-with-unexplained-sudden-death
#1
Yubi Lin, Siqi He, Zili Liao, Ruiling Feng, Ruilin Liu, Yongzheng Peng, Nan Yu, Hang Qi, Jia Chen, Zifeng Huang, Heping Lei, Yang Liu, Fang Rao, Chunyu Deng, Yumei Xue, Guolin Zhang, Bin Zhang, Hua Yao, Shulin Wu
OBJECTIVE: This study aimed to identify the pathogenic mutation in a Chinese family with unexplained sudden death (USD) or occasional syncope. MATERIALS AND METHODS: Whole exome sequencing and target capture sequencing were respectively conducted for two related patients. The genetic data was screened using the 1000 genomes project and SNP database (PubMed), and the identified mutations were assessed for predicted pathogenicity using the SIFT and Polyphen-2 algorithms...
October 10, 2017: Journal of Electrocardiology
https://www.readbyqxmd.com/read/29118996/predictors-of-risk-for-sudden-death-in-childhood-hypertrophic-cardiomyopathy-the-importance-of-the-ecg-risk-score
#2
Ingegerd Östman-Smith, Gunnar Sjöberg, Annika Rydberg, Per Larsson, Eva Fernlund
Objective: To establish which risk factors are predictive for sudden death in hypertrophic cardiomyopathy (HCM) diagnosed in childhood. Methods: A Swedish national cohort of patients with HCM diagnosed <19 years of age was collected between 1972 and 2014, consisting of 155 patients with available ECGs, with average follow-up of 10.9±(SD 9.0) years, out of whom 32 had suffered sudden death or cardiac arrest (SD/CA group). Previously proposed risk factors and clinical features, ECG and ultrasound measures were compared between SD/CA group and patients surviving >2 years (n=100), and features significantly more common in SD/CA group were further analysed with univariate and multivariate Cox hazard regression in the total cohort...
2017: Open Heart
https://www.readbyqxmd.com/read/29116137/cardiovascular-consequences-of-myocardial-bridging-a-meta-analysis-and-meta-regression
#3
Sorin Hostiuc, Mugurel Constantin Rusu, Mihaela Hostiuc, Ruxandra Irina Negoi, Ionuț Negoi
Myocardial bridging, a congenital abnormality in which a coronary artery tunnels through the myocardial fibres was usually considered a benign condition. Many studies suggested a potential hemodynamic significance of myocardial bridging and some, usually case reports, implied a possible correlation between it and various cardiovascular pathologies like acute myocardial infarction, ventricular rupture, life-threatening arrhythmias, hypertrophic cardiomyopathy, apical ballooning syndrome or sudden death. The main objective of this article is to evaluate whether myocardial bridging may be associated with significant cardiac effects or if it is strictly a benign anatomical variation...
November 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29099038/massively-parallel-sequencing-of-genes-implicated-in-heritable-cardiac-disorders-a-strategy-for-a-small-diagnostic-laboratory
#4
Ivone U S Leong, Alexander Stuckey, Daniele Belluoccio, Vicky Fan, Jonathan R Skinner, Debra O Prosser, Donald R Love
Sudden cardiac death (SCD) in people before the age of 35 years is a devastating event for any family. The causes of SCD in the young can be broadly divided into two groups: heritable cardiac disorders that affect the heart structure (cardiomyopathies) and primary electrical disorders (cardiac ion channelopathies). Genetic testing is vital as those suffering from cardiac ion channelopathies have structurally normal hearts, and those with cardiomyopathies may only show subtle abnormalities in the heart and these signs may not be detected during an autopsy...
October 10, 2017: Medical Sciences: Open Access Journal
https://www.readbyqxmd.com/read/29098618/exercise-and-congenital-heart-disease
#5
Junnan Wang, Bin Liu
Exercise is an essential part of the physical and mental health. However, many doctors and patients have a conservative attitude to participate in exercise in patients with congenital heart disease (CHD). Exercise in patients with CHD is a relatively new and controversial field. Taking into account the involvement of exercise in patients with CHD is likely to induce acute cardiovascular events and even sudden death; many doctors have a conservative attitude to participate in exercise in patients with CHD, leading to the occurrence of excessive self-protection...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29098612/exercise-benefits-coronary-heart-disease
#6
Lei Wang, Dongmei Ai, Ning Zhang
Coronary heart disease (CHD) is a group of diseases that include: no symptoms, angina, myocardial infarction, ischemia cardiomyopathy and sudden cardiac death. And it results from multiple risks factors consisting of invariable factors (e.g. age, gender, etc.) and variable factors (e.g. dyslipidemia, hypertension, diabetes, smoking, etc.). Meanwhile, CHD could cause impact not only localized in the heart, but also on pulmonary function, whole-body skeletal muscle function, activity ability, psychological status, etc...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29091329/repolarization-abnormalities-unmasked-with-exercise-in-sudden-cardiac-death-survivors-with-structurally-normal-hearts
#7
Kevin Mw Leong, Fu Siong Ng, Caroline Roney, Christopher Cantwell, Matthew J Shun-Shin, Nicholas Wf Linton, Zachary I Whinnett, David C Lefroy, D Wyn Davies, Sian E Harding, Phang Boon Lim, Darrel Francis, Nicholas S Peters, Amanda M Varnava, Prapa Kanagaratnam
BACKGROUND: Models of cardiac arrhythmogenesis predict that non-uniformity in repolarization and/or depolarization promotes ventricular fibrillation and is modulated by autonomic tone, but this is difficult to evaluate in patients. We hypothesize that such spatial heterogeneities would be detected by non-invasive ECG imaging (ECGi) in sudden cardiac death (SCD) survivors with structurally normal hearts under physiological stress. METHODS: ECGi was applied to 11 SCD survivors, 10 low-risk Brugada Syndrome patients (BrS) and 10 controls undergoing exercise treadmill testing...
November 1, 2017: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/29074047/outcomes-of-surgical-intervention-for-anomalous-aortic-origin-of-a-coronary-artery-a-large-contemporary-prospective-cohort-study
#8
Carlos M Mery, Luis E De León, Silvana Molossi, S Kristen Sexson-Tejtel, Hitesh Agrawal, Rajesh Krishnamurthy, Prakash Masand, Athar M Qureshi, E Dean McKenzie, Charles D Fraser
OBJECTIVE: The purpose of this study was to prospectively analyze the outcomes of patients with anomalous aortic origin of a coronary artery undergoing surgical intervention according to a standardized management algorithm. METHODS: All patients aged 2 to 18 years undergoing surgical intervention for anomalous aortic origin of a coronary artery between December 2012 and April 2017 were prospectively included. Patients underwent stress nuclear perfusion imaging, stress cardiac magnetic resonance imaging, and retrospectively electrocardiogram-gated computed tomography angiography preoperatively...
September 14, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29069369/high-resolution-three-dimensional-late-gadolinium-enhanced-cardiac-magnetic-resonance-imaging-to-identify-the-underlying-substrate-of-ventricular-arrhythmia
#9
Alexia Hennig, Marjorie Salel, Frederic Sacher, Claudia Camaioni, Soumaya Sridi, Arnaud Denis, Michel Montaudon, François Laurent, Pierre Jais, Hubert Cochet
Aims: Cardiac magnetic resonance (CMR) is recommended as a second-line method to diagnose ventricular arrhythmia (VA) substrate. We assessed the diagnostic yield of CMR including high-resolution late gadolinium-enhanced (LGE) imaging. Methods and results: Consecutive patients with sustained ventricular tachycardia (VT), non-sustained VT (NSVT), or ventricular fibrillation/aborted sudden death (VF/SCD) underwent a non-CMR diagnostic workup according to current guidelines, and CMR including LGE imaging with both a conventional breath-held and a free-breathing method enabling higher spatial resolution (HR-LGE)...
October 23, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29048771/catecholaminergic-polymorphic-ventricular-tachycardia-an-update
#10
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/29025686/-usefulness-of-spectral-tissue-doppler-e-e-ratio-in-the-management-of-patients-with-atrial-fibrillation
#11
S Arques, E Roux
Atrial fibrillation is the most common cardiac rhythm disorder encountered in daily clinical practice. It carries high morbidity and mortality rates, mainly related to sudden death, heart failure and stroke. Validation of noninvasive markers in the diagnosis of heart failure with preserved ejection fraction and risk stratification is therefore attractive in this clinical setting. The spectral tissue Doppler-derived E/e' ratio is a simple and user-friendly index which has been validated in the assessment of left ventricular diastolic pressures, regardless of rhythm...
November 2017: Annales de Cardiologie et D'angéiologie
https://www.readbyqxmd.com/read/28957532/arrhythmogenic-cardiomyopathy-pathology-genetics-and-concepts-in-pathogenesis
#12
Edgar T Hoorntje, Wouter P Te Rijdt, Cynthia A James, Kalliopi Pilichou, Cristina Basso, Daniel P Judge, Connie R Bezzina, J Peter van Tintelen
Arrhythmogenic cardiomyopathy (ACM) is a rare, heritable heart disease characterized by fibro-fatty replacement of the myocardium and a high degree of electric instability. It was first thought to be a congenital disorder, but is now regarded as a dystrophic heart muscle disease that develops over time. There is no curative treatment and current treatment strategies focus on attenuating the symptoms, slowing disease progression, and preventing life-threatening arrhythmias and sudden cardiac death. Identification of mutations in genes encoding desmosomal proteins and in other genes has led to insights into the disease pathogenesis and greatly facilitated identification of family members at risk...
October 1, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28944173/hypertrophic-obstructive-cardiomyopathy-the-mayo-clinic-experience
#13
Kunal D Kotkar, Sameh M Said, Joseph A Dearani, Hartzell V Schaff
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a primary myocardial disease characterized by left ventricular hypertrophy in the absence of other etiologies. Clinical presentation may vary from asymptomatic to sudden cardiac death. Medical treatment is the first-line therapy for symptomatic patients. Extended left ventricular septal myectomy is the procedure of choice if medical treatment is unsuccessful or intolerable. MAYO CLINIC EXPERIENCE: More than 3,000 patients have had septal myectomy for HCM at the Mayo Clinic (MN, USA) from 1993 to 2016...
July 2017: Annals of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/28940877/fragmented-qrs-complex-as-a-predictor-of-exercise-related-sudden-cardiac-death
#14
Tomi Toukola, M Juhani Junttila, Lauri T A Holmström, M Anette Haukilahti, Jani T Tikkanen, Henri Terho, Tuomas V Kenttä, Aapo L Aro, Olli Anttonen, Tuomas Kerola, Lasse Pakanen, Marja-Leena Kortelainen, Antti Kiviniemi, Heikki V Huikuri
INTRODUCTION: Little is known about the association between electrocardiographic abnormalities and exercise-related sudden cardiac death. Therefore, our aim was to identify possible electrocardiographic findings related to exercise-induced sudden cardiac death. METHODS AND RESULTS: The FinGesture study includes 3,989 consecutive sudden cardiac deaths in northern Finland between 1998 and 2012, out of whom a total of 647 subjects had a previously recorded electrocardiography acquired from the archives of Oulu University Hospital...
September 20, 2017: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/28928069/comments-on-the-new-international-criteria-for-electrocardiographic-interpretation-in-athletes
#15
Luis Serratosa-Fernández, Domingo Pascual-Figal, María Dolores Masiá-Mondéjar, María Sanz-de la Garza, Zigor Madaria-Marijuan, Juan Ramón Gimeno-Blanes, Carmen Adamuz
Sudden cardiac death is the most common medical cause of death during the practice of sports. Several structural and electrical cardiac conditions are associated with sudden cardiac death in athletes, most of them showing abnormal findings on resting electrocardiogram (ECG). However, because of the similarity between some ECG findings associated with physiological adaptations to exercise training and those of certain cardiac conditions, ECG interpretation in athletes is often challenging. Other factors related to ECG findings are race, age, sex, sports discipline, training intensity, and athletic background...
November 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28921787/myocardial-bridging-is-associated-with-exercise-induced-ventricular-arrhythmia-and-increases-in-qt-dispersion
#16
Makiko Nishikii-Tachibana, Vedant S Pargaonkar, Ingela Schnittger, Francois Haddad, Ian S Rogers, Jennifer A Tremmel, Paul J Wang
BACKGROUND: A myocardial bridge (MB) has been associated with ventricular arrhythmia and sudden death during exercise. QT dispersion (QTd) is a measure of abnormal repolarization and may predict ventricular arrhythmia. We investigated the frequency of ventricular arrhythmias during exercise and the QTd at rest and after exercise, in patients with an MB compared to a normal cohort. METHODS: We studied the rest and stress ECG tracings of patients with an MB suspected by focal septal buckling on exercise echocardiography (EE) (Echo-MB group, N = 510), those with an MB confirmed by another examination (MB group, N = 110), and healthy controls (Control group, N = 198)...
September 18, 2017: Annals of Noninvasive Electrocardiology
https://www.readbyqxmd.com/read/28903763/troponin-as-ischemic-biomarker-is-related-with-all-three-echocardiographic-risk-factors-for-sudden-death-in-hypertrophic-cardiomyopathy-esc-guidelines-2014
#17
Rafał Hładij, Renata Rajtar-Salwa, Paweł Petkow Dimitrow
BACKGROUND: Sudden cardiac death (SCD) risk stratification is the most important preventive action in patients with hypertrophic cardiomyopathy (HCM). The identification of the ischemia biomarker high sensitive troponin I (hs-TnI) role for this arrhythmic disease may provide additional information for SCD risk stratification. The aim of the study was to compare echocardiographic parameters (prognostic for risk stratification of SCD in HCM) among two subgroups of HCM patients: with elevated hs-TnI versus non-elevated hs-TnI level...
September 13, 2017: Cardiovascular Ultrasound
https://www.readbyqxmd.com/read/28878587/arrhythmogenic-right-ventricular-cardiomyopathy-in-an-endurance-athlete-presenting-with-ventricular-tachycardia-and-normal-right-ventricular-function
#18
Jeffrey S Hedley, Ibhar Al Mheid, Zoubin Alikhani, Maria A Pernetz, Jonathan H Kim
Arrhythmogenic right ventricular cardiomyopathy, a genetically inherited disease that results in fibrofatty replacement of normal cardiac myocytes, has been associated with sudden cardiac death in athletes. Long-term participation in endurance exercise hastens the development of both the arrhythmic and structural arrhythmogenic right ventricular cardiomyopathy phenotypes. We describe the unusual case of a 34-year-old, symptomatic, female endurance athlete who had arrhythmogenic right ventricular cardiomyopathy in the presence of a structurally normal right ventricle...
August 2017: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28877717/cardiovascular-health-effects-following-exposure-of-human-volunteers-during-fire-extinction-exercises
#19
Maria Helena Guerra Andersen, Anne Thoustrup Saber, Peter Bøgh Pedersen, Steffen Loft, Åse Marie Hansen, Ismo Kalevi Koponen, Julie Elbæk Pedersen, Niels Ebbehøj, Eva-Carina Nørskov, Per Axel Clausen, Anne Helene Garde, Ulla Vogel, Peter Møller
BACKGROUND: Firefighters have increased risk of cardiovascular disease and of sudden death from coronary heart disease on duty while suppressing fires. This study investigated the effect of firefighting activities, using appropriate personal protective equipment (PPE), on biomarkers of cardiovascular effects in young conscripts training to become firefighters. METHODS: Healthy conscripts (n = 43) who participated in a rescue educational course for firefighting were enrolled in the study...
September 6, 2017: Environmental Health: a Global Access Science Source
https://www.readbyqxmd.com/read/28855435/nationwide-survey-of-patients-with-giant-coronary-aneurysm-secondary-to-kawasaki-disease-1999-2010-in-japan
#20
Ryuji Fukazawa, Tohru Kobayashi, Masashi Mikami, Tsutomu Saji, Kenji Hamaoka, Hitoshi Kato, Hiroyuki Suzuki, Etsuko Tsuda, Mamoru Ayusawa, Masaru Miura, Ryota Ebata, Tomio Kobayashi, Mayumi Yashiro, Shunichi Ogawa
BACKGROUND: Giant coronary aneurysm is the most severe sequela in Kawasaki disease, occurring in approximately 0.2% of patients in Japan. Regression is rare, while myocardial infarction (MI) and sudden death are relatively common. Herein, we reviewed patients with giant coronary aneurysm in a 10-year period.Methods and Results:A nationwide questionnaire survey was conducted based on a national epidemiological database from 1999 to 2010. We identified 355 giant coronary aneurysm patients, of whom 209 were analyzed...
August 30, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
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