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Inherited Arrhythmias

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https://www.readbyqxmd.com/read/29925183/-analysis-on-the-factors-related-to-the-immediate-success-rate-of-radiofrequency-catheter-ablation-on-patients-with-idiopathic-right-ventricular-outflow-tract-ventricular-arrhythmia
#1
G Chen, X F Li, X H Fan, K J Zhang, F Z Wang, Y Yao
Objective: To analyze the clinical characteristics of patients with idiopathic right ventricular outflow tract (RVOT) ventricular arrhythmias (VA) and factors related to the immediate success rate of radiofrequency ablation. Methods: Patients diagnosed as idiopathic RVOT arrhythmia in Fuwai Hospital from February 2009 to January 2013 were retrospectively screened. Patients with structural heart disease or inherited arrhythmia were excluded. All patients underwent endocardial electrophysiological study and radiofrequency catheter ablation...
June 24, 2018: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/29905788/extended-use-of-the-wearable-cardioverter-defibrillator-in-patients-at-risk-for-sudden-cardiac-death
#2
Valentina Kutyifa, Katherine Vermilye, Usama A Daimee, Scott McNitt, Helmut Klein, Arthur J Moss
Aims: Data on outcomes in patients using the wearable cardioverter-defibrillator (WCD) > 90 days are limited. We aimed to analyse the clinical course of patients with WCD use ≤90 days vs. WCD use >90 days. Methods and results: We assessed arrhythmia events during WCD use, and ejection fraction (EF) improvement/implantable cardioverter-defibrillator (ICD) implantation at the end of WCD use in patients with WCD use ≤90 days vs. WCD use >90 days enrolled in the WEARIT-II registry, further assessed by disease aetiology (ischaemic vs...
June 14, 2018: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29893868/microtubule-cytoskeleton-regulates-connexin-43-localization-and-cardiac-conduction-in-cardiomyopathy-caused-by-mutation-in-a-type-lamins-gene
#3
Coline Macquart, Rene Jüttner, Caroline Le Dour, Maria Chatzifrangkeskou, Alain Schmitt, Michael Gotthardt, Gisèle Bonne, Antoine Muchir
Mutations in the lamin A/C gene (LMNA) cause an autosomal dominant inherited form of dilated cardiomyopathy associated with cardiac conduction disease (hereafter referred to as LMNA cardiomyopathy). Compared with other forms of dilated cardiomyopathy, mutations in LMNA are responsible for a more aggressive clinical course due to a high rate of malignant ventricular arrhythmias. Gap junctions are intercellular channels that allow direct communication between neighboring cells, which are involved in electrical impulse propagation and coordinated contraction of the heart...
June 8, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29870068/j-wave-syndromes-as-a-cause-of-malignant-cardiac-arrhythmias
#4
REVIEW
José M Di Diego, Charles Antzelevitch
The J wave syndromes, including the Brugada (BrS) and early repolarization (ERS) syndromes, are characterized by the manifestation of prominent J waves in the electrocardiogram appearing as an ST segment elevation and the development of life-threatening cardiac arrhythmias. BrS and ERS differ with respect to the magnitude and lead location of abnormal J waves and are thought to represent a continuous spectrum of phenotypic expression termed J wave syndromes (JWS). Despite over 25 years of intensive research, risk stratification and the approach to therapy of these two inherited cardiac arrhythmia syndromes are still rapidly evolving...
June 5, 2018: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/29802319/frequency-of-genetic-variants-associated-with-arrhythmogenic-right-ventricular-cardiomyopathy-in-the-genome-aggregation-database
#5
Charlotte L Hall, Henry Sutanto, Chrysoula Dalageorgou, William John McKenna, Petros Syrris, Marta Futema
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare inherited heart-muscle disorder, which is the most common cause of life-threatening arrhythmias and sudden cardiac death (SCD) in young adults and athletes. Early and accurate diagnosis can be crucial in effective ARVC management and prevention of SCD.The genome Aggregation Database (gnomAD) population of 138,632 unrelated individuals was searched for previously identified ARVC variants, classified as pathogenic or unknown on the disease genetic variant database ( http://www...
May 25, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29759488/neuromuscular-disorders-and-the-role-of-the-clinical-electrophysiologist
#6
REVIEW
Haisam Ismail, Elizabeth Raynor, Peter Zimetbaum
Cardiac involvement is common and may be the presenting or predominant manifestation in a variety of neuromuscular disorders, most notably the inherited muscle disorders, or muscular dystrophies. Cardiac manifestations of the neuromuscular disorders result from pathological involvement of the myocardium and the cardiac conduction system, with resulting cardiomyopathy or rhythm disturbances including supraventricular arrhythmias, life-threatening ventricular arrhythmias, and sudden cardiac death. Many of these neuromuscular disorders are rare and may be unrecognized by even experienced specialists in internal and cardiovascular medicine...
October 2017: JACC. Clinical Electrophysiology
https://www.readbyqxmd.com/read/29758173/lack-of-genotype-phenotype-correlation-in-families-who-had-brugada-syndrome-and-sudden-arrhythmic-death-syndrome-with-reported-pathogenic-scn1b-variants
#7
Belinda Gray, Can Hasdemir, Jodie Ingles, Takeshi Aiba, Naomasa Makita, Vincent Probst, Arthur A M Wilde, Ruth Newbury-Ecob, Mary N Sheppard, Christopher Semsarian, Raymond W Sy, Elijah R Behr
BACKGROUND: There is limited evidence that Brugada syndrome (BrS) is due to SCN1B variants (BrS5). This gene may be inappropriately included in routine genetic testing panels for BrS or sudden arrhythmic death syndrome (SADS). OBJECTIVE: We sought to characterize the genotype-phenotype correlation in families who had BrS and SADS with reportedly pathogenic SCN1B variants and to review their pathogenicity. METHODS: Families with BrS and SADS were assessed from 6 inherited arrhythmia centers worldwide, and a comprehensive literature review was performed...
May 3, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29757020/recent-advances-in-the-treatment-of-brugada-syndrome
#8
Mariana Argenziano, Charles Antzelevitch
Brugada syndrome (BrS) is an inherited cardiac arrhythmia syndrome characterized by ST-segment elevation in right precordial ECG leads and associated with sudden cardiac death in young adults. The ECG manifestations of BrS are often concealed but can be unmasked by sodium channel blockers and fever. Areas covered: Implantation of a cardioverter defibrillator (ICD) is first-line therapy for BrS patients presenting with prior cardiac arrest or documented VT. A pharmacological approach to therapy is recommended in cases of electrical storm, as an adjunct to ICD and as preventative therapy...
June 2018: Expert Review of Cardiovascular Therapy
https://www.readbyqxmd.com/read/29750649/cardiac-examination-in-children-with-laron-syndrome-undergoing-mecasermin-therapy
#9
Nurdan Erol, Metin Yıldız, Ayla Güven, Ayse Yıldırım
BACKGROUND: Laron syndrome (LS), which can be defined as primary growth hormone resistance or insensitivity, is a rare genetic disease inherited by an autosomal recessive trait. Although it is undistinguishable from growth hormone deficiency, LS has high levels of growth hormone, but insulin-like growth factor (IGF-1) cannot be synthesized. Mecasermin treatment is the only option for the patients who suffer from LS. This study aims to research cardiac findings of children with LS, who receive treatment with mecasermin...
May 11, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29747658/naxos-disease-from-the-origin-to-today
#10
REVIEW
Guo-Liang Li, Ardan M Saguner, Guy H Fontaine
Naxos disease, first described by Dr. Nikos Protonotarios and colleagues on the island of Naxos, Greece, is a special form of arrhythmogenic right ventricular dysplasia (ARVD). It is an inherited condition with a recessive form of transmission and a familial penetrance of 90%. It is associated with thickening of the skin of the hands and sole, and a propensity to woolly hair. The cardiac anomalies characterized by ventricular arrhythmias with ventricular extrasystoles and tachycardia and histologic features of the myocardium are consistent with ARVD, but in a more severe form of dysplasia with major dilatation of the right ventricle...
May 10, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29744527/inherited-primary-arrhythmia-disorders-cardiac-channelopathies-and-sports-activity
#11
REVIEW
S Marrakchi, I Kammoun, E Bennour, L Laroussi, M Ben Miled, S Kachboura
Sudden cardiac death (SCD) in an apparently healthy individual is a tragedy. It is important to identify the cause of death and to prevent SCD in potentially at-risk family members. Inherited primary arrhythmia disorders are associated with exercise-related SCD. Despite the well-known benefits of exercise, exercise restriction has been a historical mainstay of therapy for these conditions. However, since familiarity with inherited arrhythmia conditions has increased and patients are often children and young adults, it is necessary to reassess the treatment guidelines regarding exercise constraints...
May 9, 2018: Herz
https://www.readbyqxmd.com/read/29738690/recombinant-production-reconstruction-in-lipid-protein-nanodiscs-and-electron-microscopy-of-full-length-%C3%AE-subunit-of-human-potassium-channel-kv7-1
#12
Z O Shenkarev, M G Karlova, D S Kulbatskii, M P Kirpichnikov, E N Lyukmanova, O S Sokolova
Voltage-gated potassium channel Kv7.1 plays an important role in the excitability of cardiac muscle. The α-subunit of Kv7.1 (KCNQ1) is the main structural element of this channel. Tetramerization of KCNQ1 in the membrane results in formation of an ion channel, which comprises a pore and four voltage-sensing domains. Mutations in the human KCNQ1 gene are one of the major causes of inherited arrhythmias, long QT syndrome in particular. The construct encoding full-length human KCNQ1 protein was synthesized in this work, and an expression system in the Pichia pastoris yeast cells was developed...
May 2018: Biochemistry. Biokhimii︠a︡
https://www.readbyqxmd.com/read/29725305/development-of-a-high-throughput-flow-cytometry-assay-to-monitor-defective-trafficking-and-rescue-of-long-qt2-mutant-herg-channels
#13
Scott A Kanner, Ananya Jain, Henry M Colecraft
Long QT Syndrome (LQTS) is an acquired or inherited disorder characterized by prolonged QT interval, exertion-triggered arrhythmias, and sudden cardiac death. One of the most prevalent hereditary LQTS subtypes, LQT2, results from loss-of-function mutations in the hERG channel, which conducts I Kr , the rapid component of the delayed rectifier K+ current, critical for cardiac repolarization. The majority of LQT2 mutations result in Class 2 deficits characterized by impaired maturation and trafficking of hERG channels...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29721109/arrhythmogenic-right-ventricular-cardiomyopathy-dysplasia-arvc-d-in-clinical-practice
#14
REVIEW
Ka Hou Christien Li, George Bazoukis, Tong Liu, Guangping Li, William K K Wu, Sunny Hei Wong, Wing Tak Wong, Yat Sun Chan, Martin C S Wong, Katharina Wassilew, Vassilios S Vassiliou, Gary Tse
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an inherited myocardial disease characterized by fibro-fatty replacement of the right ventricular myocardium, and associated with paroxysmal ventricular arrhythmias and sudden cardiac death (SCD). It is currently the second most common cause of SCD after hypertrophic cardiomyopathy in young people <35 years of age, causing up to 20% of deaths in this patient population. This condition has a male preponderance and is more commonly found in individuals of Italian and Greek descent...
February 2018: Journal of Arrhythmia
https://www.readbyqxmd.com/read/29718149/a-common-co-morbidity-modulates-disease-expression-and-treatment-efficacy-in-inherited-cardiac-sodium-channelopathy
#15
Mathilde R Rivaud, John A Jansen, Pieter G Postema, Eline A Nannenberg, Yuka Mizusawa, Roel van der Nagel, Rianne Wolswinkel, Ingeborg van der Made, Gerard A Marchal, Sridharan Rajamani, Luiz Belardinelli, J Peter van Tintelen, Michael W T Tanck, Allard C van der Wal, Jacques M T de Bakker, Harold V van Rijen, Esther E Creemers, Arthur A M Wilde, Maarten P van den Berg, Toon A B van Veen, Connie R Bezzina, Carol Ann Remme
Aims: Management of patients with inherited cardiac ion channelopathy is hindered by variability in disease severity and sudden cardiac death (SCD) risk. Here, we investigated the modulatory role of hypertrophy on arrhythmia and SCD risk in sodium channelopathy. Methods and results: Follow-up data was collected from 164 individuals positive for the SCN5A-1795insD founder mutation and 247 mutation-negative relatives. A total of 38 (obligate) mutation-positive patients died suddenly or suffered life-threatening ventricular arrhythmia...
April 27, 2018: European Heart Journal
https://www.readbyqxmd.com/read/29709087/identification-of-sarcomeric-variants-in-probands-with-a-clinical-diagnosis-of-arrhythmogenic-right-ventricular-cardiomyopathy-arvc
#16
Brittney Murray, Edgar T Hoorntje, Anneline S J M Te Riele, Crystal Tichnell, Jeroen F van der Heijden, Harikrishna Tandri, Maarten P van den Berg, Jan D H Jongbloed, Arthur A M Wilde, Richard N W Hauer, Hugh Calkins, Daniel P Judge, Cynthia A James, J Peter van Tintelen, Dennis Dooijes
AIMS: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by ventricular arrhythmias and sudden death. Currently 60% of patients meeting Task Force Criteria (TFC) have an identifiable mutation in one of the desmosomal genes. As much overlap is described between other cardiomyopathies and ARVC, we examined the prevalence of rare, possibly pathogenic sarcomere variants in the ARVC population. METHODS: One hundred and thirty-seven (137) individuals meeting 2010 TFC for a diagnosis of ARVC, negative for pathogenic desmosomal variants, TMEM43, SCN5A, and PLN were screened for variants in the sarcomere genes (ACTC1, MYBPC3, MYH7, MYL2, MYL3, TNNC1, TNNI3, TNNT2, and TPM1) through either clinical or research genetic testing...
April 30, 2018: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/29706893/determinants-of-isoform-specific-gating-kinetics-of-herg1-channel-combined-experimental-and-simulation-study
#17
Laura L Perissinotti, Pablo M De Biase, Jiqing Guo, Pei-Chi Yang, Miranda C Lee, Colleen E Clancy, Henry J Duff, Sergei Y Noskov
IKr is the rapidly activating component of the delayed rectifier potassium current, the ion current largely responsible for the repolarization of the cardiac action potential. Inherited forms of long QT syndrome (LQTS) (Lees-Miller et al., 1997) in humans are linked to functional modifications in the Kv11.1 (hERG) ion channel and potentially life threatening arrhythmias. There is little doubt now that hERG-related component of IKr in the heart depends on the tetrameric (homo- or hetero-) channels formed by two alternatively processed isoforms of hERG, termed hERG1a and hERG1b...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29705387/sudden-cardiac-death-in-athletes
#18
REVIEW
Joanna Sweeting, Christopher Semsarian
Sudden cardiac death (SCD) in athletes is a rare but tragic complication of a number of cardiovascular diseases. Inherited causes such as the structural and arrhythmogenic genetic heart conditions are often found or suspected to be the underlying cause of death at post mortem examination. Physical activity and intense exercise may trigger cardiac arrhythmias in individuals with these conditions leading to SCD. Prevention and treatment strategies include individual athlete management strategies, coupled with public health measures such as universal cardiopulmonary resuscitation (CPR) training and availability of automatic external defibrillators (AEDs) in public places, thereby preventing SCD in both athletes and the general population...
April 5, 2018: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/29705385/diagnosis-of-arrhythmogenic-right-ventricular-cardiomyopathy-progress-and-pitfalls
#19
REVIEW
Ad W G J Oomen, Christopher Semsarian, Rajesh Puranik, Raymond W Sy
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy that predominantly affects the right ventricle. With a prevalence in the range of 1:5000 to 1:2000 persons, ARVC is one of the leading causes of sudden cardiac death in young people and in athletes. Although early detection and treatment is important, the diagnosis of ARVC remains challenging. There is no single pathognomonic diagnostic finding in ARVC; rather, current international task force criteria specify diagnostic major and minor criteria in six categories: right ventricular imaging (including echocardiography and cardiac magnetic resonance imaging (MRI)), histology, repolarisation abnormalities, depolarisation and conduction abnormalities, arrhythmias and family history (including genetic testing)...
April 4, 2018: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/29704693/cardiac-arrest-during-spine-surgery-in-the-prone-position-case-report-and-review-of-the-literature
#20
REVIEW
Victor E Staartjes, Shiva A Schillevoort, Patricia G Blum, J Peter van Tintelen, Wouter E Kok, Marc L Schröder
OBJECTIVE: Intraoperative cardiac arrest (CA) is usually attributable to pre-existing disease or intraoperative complications. In rare cases, intraoperative stress can demask certain genetic diseases, such as catecholaminergic polymorphic ventricular tachycardia (CPVT). It is essential that neurosurgeons be aware of the etiologies, risk factors, and initial management of CA during surgery with the patient in the prone position. METHODS: We present a case of CA directly after spinal fusion for lumbar spondylolisthesis and review the literature on cardiac arrests during spinal neurosurgery in the prone position...
April 26, 2018: World Neurosurgery
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