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inherited arrhythmia

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https://www.readbyqxmd.com/read/28334543/-functional-impact-of-herg-from-physiological-role-to-target-of-anticancer-therapy
#1
Júlia Šatková, Markéta Bébarová
The human ether-à-go-go related gene (hERG; officially designated as KCNH2) encodes the structure of protein forming α-subunit of voltage-gated ion channel which conducts the rapid component of delayed rectifier K+ current (IKr). This current plays an important role namely in the cardiac repolarization. Mutations in hERG result in inherited arrhythmogenic syndromes characterized by a lenghtening or shortening of QT interval on the electrocardiogram and by an increased occurrence of life-threatening arrhythmias...
2017: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/28326201/hyperkalemia-induced-brugada-phenocopy-a-rare-ecg-manifestation
#2
Muhammad Ameen, Ghulam Akbar, Naeem Abbas, Ghazi Mirrani
Brugada syndrome (BrS) is an inherited disorder of cardiac ion channels characterized by peculiar ECG findings predisposing individuals to ventricular arrhythmias, syncope, and sudden cardiac death (SCD). Various electrolyte disturbances and ion channels blocking drugs could also provoke BrS ECG findings without genetic BrS. Clinical differentiation and recognition are essential for guiding the legitimate action. Hyperkalemia is well known to cause a wide variety of ECG manifestations. Severe hyperkalemia can even cause life threatening ventricular arrhythmias and cardiac conduction abnormalities...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28315127/inherited-ventricular-arrhythmias-the-role-of-the-multi-subunit-structure-of-the-l-type-calcium-channel-complex
#3
Julie Briot, Marie-Philippe Tétreault, Benoîte Bourdin, Lucie Parent
The normal heartbeat is conditioned by transient increases in the intracellular free Ca(2+) concentration. Ca(2+) influx in cardiomyocytes is regulated by the activity of the heteromeric L-type voltage-activated CaV1.2 channel. A complex network of interactions between the different proteins forming the ion channel supports the kinetics and the activation gating of the Ca(2+) influx. Alterations in the biophysical and biochemical properties or in the biogenesis in any of these proteins can lead to serious disturbances in the cardiac rhythm...
March 18, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28266935/genetic-causes-of-sudden-cardiac-death-in-the-young
#4
Andrea Mazzanti, Riccardo Maragna, Silvia G Priori
PURPOSE OF REVIEW: In this article, we discuss the most recent and relevant studies published in the field of inherited arrhythmogenic disorders, focusing in particular on channelopathies (Long QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia) and arrhythmogenic right ventricular cardiomyopathy (ARVC). RECENT FINDINGS: We discuss the updated diagnostic criteria for channelopathies released by the European Society of Cardiology, the new results on the value of programmed electrical stimulation in patients with Brugada syndrome, and the recent evidences supporting a genotype-specific therapy for Long QT syndrome type 3...
March 6, 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28262340/gain-of-function-mutation-in-scn5a-causes-ventricular-arrhythmias-and-early-onset-atrial-fibrillation
#5
Krystien V Lieve, Arie O Verkerk, Svitlana Podliesna, Christian van der Werf, Michael W Tanck, Nynke Hofman, Paul F van Bergen, Leander Beekman, Connie R Bezzina, Arthur A M Wilde, Elisabeth M Lodder
BACKGROUND: Mutations in SCN5A, the gene encoding the α-subunit of the cardiac sodium channel (NaV1.5), are associated with a broad spectrum of inherited cardiac arrhythmia disorders. The purpose of this study was to identify the genetic and functional determinants underlying a Dutch family that presented with a combined phenotype of ventricular arrhythmias with a likely adrenergic component, either in isolation or in combination with a mildly decreased heart function and early onset (<55years) atrial fibrillation...
January 29, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28246924/jsa-guideline-for-the-management-of-malignant-hyperthermia-crisis-2016
#6
REVIEW
(no author information available yet)
Malignant hyperthermia (MH) can be fatal if the crisis is not appropriately treated. It is an inherited disease usually triggered by the administration of volatile inhalational anesthetics and/or succinylcholine, a muscle relaxant. In a patient with suspected MH, the mechanism of calcium release from storage in the sarcoplasmic reticulum in the skeletal muscle is abnormally accelerated. Unexplained hypercarbia representing >55 mmHg of end-tidal carbon dioxide, tachycardia, and muscle rigidity (including masseter muscle rigidity) are early signs of the initiation of MH, because the metabolism is accelerated...
February 28, 2017: Journal of Anesthesia
https://www.readbyqxmd.com/read/28217615/type-1-brugada-pattern-electrocardiogram-induced-by-hypokalemia
#7
Thein Swe, Muhammad Hassan Dogar
Coved-type ST-segment elevation in the right precordial leads are the characteristics of Brugada syndrome, an inherited arrhythmogenic ion channel disease, which could lead to ventricular arrhythmia and sudden death. Hypokalemia alone may induce Type 1 Brugada pattern electrocardiogram (EKG), and the association has rarely been reported. We describe a patient with hypokalemia 2.9 mmol/L and the appearance of new right bundle branch block pattern with coved ST-segment elevations with inverted T wave in leads V1-V2...
July 2016: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/28213508/familial-occurrence-of-atrioventricular-nodal-reentrant-tachycardia
#8
Yoav Michowitz, Adi Anis-Heusler, Eyal Reinstein, Oholi Tovia-Brodie, Aharon Glick, Bernard Belhassen
BACKGROUND: Atrioventricular nodal reentrant tachycardia (AVNRT) is considered a sporadic disease occurring in ≈22.5 cases per 10 000 in the general population. We define the prevalence and characteristics of familial AVNRT among patients who underwent radiofrequency ablation. METHODS AND RESULTS: Ablation reports of all patients with familial AVNRT (at least 2 first-degree family members) who underwent radiofrequency ablation in our institution and in another hospital were reviewed...
February 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/28191886/sirtuin-1-regulates-cardiac-electrical-activity-by-deacetylating-the-cardiac-sodium-channel
#9
Ajit Vikram, Christopher M Lewarchik, Jin-Young Yoon, Asma Naqvi, Santosh Kumar, Gina M Morgan, Julia S Jacobs, Qiuxia Li, Young-Rae Kim, Modar Kassan, Jing Liu, Mohanad Gabani, Ajay Kumar, Haider Mehdi, Xiaodong Zhu, Xiaoqun Guan, William Kutschke, Xiaoming Zhang, Ryan L Boudreau, Shengchuan Dai, Daniel S Matasic, Saet-Byel Jung, Kenneth B Margulies, Vikas Kumar, Markus M Bachschmid, Barry London, Kaikobad Irani
The voltage-gated cardiac Na(+) channel (Nav1.5), encoded by the SCN5A gene, conducts the inward depolarizing cardiac Na(+) current (INa) and is vital for normal cardiac electrical activity. Inherited loss-of-function mutations in SCN5A lead to defects in the generation and conduction of the cardiac electrical impulse and are associated with various arrhythmia phenotypes. Here we show that sirtuin 1 deacetylase (Sirt1) deacetylates Nav1.5 at lysine 1479 (K1479) and stimulates INa via lysine-deacetylation-mediated trafficking of Nav1...
March 2017: Nature Medicine
https://www.readbyqxmd.com/read/28157161/an-exploratory-study-to-determine-whether-brca1-and-brca2-mutation-carriers-have-higher-risk-of-cardiac-toxicity
#10
Monique Sajjad, Michael Fradley, Weihong Sun, Jongphil Kim, Xiuhua Zhao, Tuya Pal, Roohi Ismail-Khan
Anthracycline-based cardiotoxicity is concerning for women with breast cancer and portends a dose-dependent risk of developing left ventricular dysfunction. Overall, the prevalence of heart failure (HF) is ≈2% of the total US population; however, BRCA-deficient mice have shown increased HF. We evaluated for the inherent risk of HF in women with BRCA mutations to determine whether treatment with anthracycline-based therapy increased this risk. We obtained results on BRCA mutation carriers regarding cancer treatment and HF, identified through the BRCA patient advocacy organization Facing Our Risk for Cancer Empowered (FORCE) and the Moffittbased Inherited Cancer Registry...
February 2, 2017: Genes
https://www.readbyqxmd.com/read/28155223/evaluation-of-prolonged-qt-interval-structural-heart-disease-mimicking-long-qt-syndrome
#11
Adaya Weissler-Snir, Michael H Gollob, Vijay Chauhan, Melanie Care, Danna A Spears
BACKGROUND: In about 20-25% of patients with congenital long QT syndrome (LQTS) a causative pathogenic mutation is not found. The aim of this study was to explore the prevalence of alternative cardiac diagnoses among patients exhibiting prolongation of QT interval with negative genetic testing for LQTS genes. METHODS: We conducted a retrospective analysis of 239 consecutive patients who were evaluated in the inherited arrhythmia clinic at the Toronto General Hospital between July 2013 and December 2015 for possible LQTS...
February 3, 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/28146213/compound-heterozygous-scn5a-mutations-in-a-toddler-are-they-associated-with-a-more-severe-phenotype
#12
Luciana Sacilotto, Hindalis Ballesteros Epifanio, Francisco Carlos da Costa Darrieux, Fanny Wulkan, Theo Gremen Mimary Oliveira, Denise Tessariol Hachul, Alexandre da Costa Pereira, Mauricio Ibrahim Scanavacca
Compound heterozygosity has been described in inherited arrhythmias, and usually associated with a more severe phenotype. Reports of this occurrence in Brugada syndrome patients are still rare. We report a study of genotype-phenotype correlation after the identification of new variants by genetic testing. We describe the case of an affected child with a combination of two different likely pathogenic SCN5A variants, presenting sinus node dysfunction, flutter and atrial fibrillation, prolonged HV interval, spontaneous type 1 Brugada pattern in the prepubescent age and familiar history of sudden death...
January 2017: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/28146053/cardiac-channelopathies-and-sudden-death-recent-clinical-and-genetic-advances
#13
REVIEW
Anna Fernández-Falgueras, Georgia Sarquella-Brugada, Josep Brugada, Ramon Brugada, Oscar Campuzano
Sudden cardiac death poses a unique challenge to clinicians because it may be the only symptom of an inherited heart condition. Indeed, inherited heart diseases can cause sudden cardiac death in older and younger individuals. Two groups of familial diseases are responsible for sudden cardiac death: cardiomyopathies (mainly hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic cardiomyopathy) and channelopathies (mainly long QT syndrome, Brugada syndrome, short QT syndrome, and catecholaminergic polymorphic ventricular tachycardia)...
January 29, 2017: Biology
https://www.readbyqxmd.com/read/28139837/long-term-follow-up-of-arrhythmogenic-right-ventricular-cardiomyopathy-patients-with-an-implantable-cardioverter-defibrillator-for-prevention-of-sudden-cardiac-death
#14
Kang Yin, Ligang Ding, Yuqiu Li, Wei Hua
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare inherited cardiomyopathywith a high burden of ventricular arrhythmia, which is an important cause of suddencardiac death (SCD). Implantable cardioverter-defibrillator (ICD) is believed to be the most reliable management against SCD. HYPOTHESIS: Ventricular arrhythmia does not necessarily confer a poor prognosis in ARVC patients with an ICD. METHODS: A total of 39 ARVC patients (34 male) implanted with an ICD at our electrophysiologycenter and followed up continuously were included in this study...
January 31, 2017: Clinical Cardiology
https://www.readbyqxmd.com/read/28139454/brugada-syndrome-diagnosis-risk-stratification-and-management
#15
REVIEW
Jean-Baptiste Gourraud, Julien Barc, Aurélie Thollet, Hervé Le Marec, Vincent Probst
Brugada syndrome is a rare inherited arrhythmia syndrome leading to an increased risk of sudden cardiac death, despite a structurally normal heart. Diagnosis is based on a specific electrocardiogram pattern, observed either spontaneously or during a sodium channel blocker test. Among affected patients, risk stratification remains a challenge, despite recent insights from large population cohorts. As implantable cardiac defibrillators - the main therapy in Brugada syndrome - are associated with a high rate of complications in this population, the main challenge is risk stratification of patients with Brugada syndrome...
March 2017: Archives of Cardiovascular Diseases
https://www.readbyqxmd.com/read/28127136/a-variant-of-brugada-syndrome
#16
Maryna Popp Switzer, Mohamed Teleb, Enoch Agunanne, Aamer Abbas
Brugada syndrome is an inherited disorder that can present with syncope, cardiac arrest, or sudden cardiac death. Multiple genetic mutations have been described that cause this disease. We present a 56-year-old man who sustained an out-of-hospital cardiac arrest, was resuscitated, and was found to have typical features of the Brugada criteria on the electrocardiogram. Genetic testing was positive for a heterozygous mutation in the sodium voltage-gated channel alpha subunit 5 (SCN5A) gene with a p. Leu227Pro (L227P) variant located on exon 6...
January 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28032242/molecular-pathological-study-on-lrrc10-in-sudden-unexplained-nocturnal-death-syndrome-in-the-chinese-han-population
#17
Lei Huang, Shuangbo Tang, Yili Chen, Liyong Zhang, Kun Yin, Yeda Wu, Jinxiang Zheng, Qiuping Wu, Jonathan C Makielski, Jianding Cheng
Sudden unexplained nocturnal death syndrome (SUNDS) is a perplexing disorder to both forensic pathologists and clinic physicians. Clinical features of SUNDS survivors suggested that SUNDS is similar to Brugada syndrome (BrS). Leucine-rich repeat containing 10 (LRRC10) gene was a newly identified gene linked to dilated cardiomyopathy, a disease associated with sudden cardiac death. To investigate the prevalence and spectrum of genetic variants of LRRC10 gene in SUNDS and BrS, the coding regions of LRRC10 were genetically screened in 113 sporadic SUNDS victims (from January 2005 to December 2015, 30...
December 28, 2016: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28005240/complicated-pregnancies-in-inherited-distal-renal-tubular-acidosis-importance-of-acid-base-balance
#18
Harald Seeger, Peter Salfeld, Rüdiger Eisel, Carsten A Wagner, Nilufar Mohebbi
Inherited distal renal tubular acidosis (dRTA) is caused by impaired urinary acid excretion resulting in hyperchloremic metabolic acidosis. Although the glomerular filtration rate (GFR) is usually preserved, and hypertension and overt proteinuria are absent, it has to be considered that patients with dRTA also suffer from chronic kidney disease (CKD) with an increased risk for adverse pregnancy-related outcomes. Typical complications of dRTA include severe hypokalemia leading to cardiac arrhythmias and paralysis, nephrolithiasis and nephrocalcinosis...
December 22, 2016: Journal of Nephrology
https://www.readbyqxmd.com/read/27998945/new-insights-into-the-genetic-basis-of-inherited-arrhythmia-syndromes
#19
Belinda Gray, Elijah R Behr
No abstract text is available yet for this article.
December 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27990841/management-of-pregnancy-in-cardiomyopathies-and-heart-failure
#20
Enrica Golia, Rita Gravino, Alessandra Rea, Daniele Masarone, Marta Rubino, Annapaola Cirillo, Roberta Pacileo, Fiorella Fratta, Maria Giovanna Russo, Giuseppe Pacileo, Giuseppe Limongelli
Pregnancy exposes women with inherited cardiomyopathies to increased risk for arrhythmias and heart failure. In asymptomatic patients with inherited cardiomyopathies, pregnancy is generally well tolerated. Preconception evaluation, risk assessment and proper counseling by a team of experienced physicians are mandatory in managing women with inherited cardiomyopathies planning pregnancy. In this paper, we reviewed the clinical course, risk assessment and management during pregnancy of women with cardiomyopathies...
January 2017: Future Cardiology
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