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inherited arrhythmia

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https://www.readbyqxmd.com/read/29759488/neuromuscular-disorders-and-the-role-of-the-clinical-electrophysiologist
#1
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
#2
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
#3
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...
May 14, 2018: Expert Review of Cardiovascular Therapy
https://www.readbyqxmd.com/read/29750649/cardiac-examination-in-children-with-laron-syndrome-undergoing-mecasermin-therapy
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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 to intraoperative complications. In rare cases, intraoperative stress can demask certain genetic diseases, such as Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). It is essential that neurosurgeons are aware of the etiologies, risk factors, and initial management of CA during surgery 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
https://www.readbyqxmd.com/read/29678777/a-10-year-review-of-sudden-death-during-sporting-activities
#16
Mark Dennis, Alexander Elder, Christopher Semsarian, John Orchard, Isabel Brouwer, Rajesh Puranik
BACKGROUND: Sudden death during sport is a rare but devastating event. Previous research has mostly focused on sudden deaths in young competitive athletes. OBJECTIVE: To characterise the demographics and aetiology of sudden cardiac death (SCD) during sport in Australia. METHODS: All autopsies conducted at our forensic medicine facility between the years 2006-2015 (inclusive) were reviewed. Sporting related deaths amongst those 7-65 years of age were identified...
April 17, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29668588/a-delayed-diagnosis-of-catecholaminergic-polymorphic-ventricular-tachycardia-with-a-mutant-of-ryr2-at-c-7580t-g-for-6-years-in-a-9-year-old-child
#17
Hongyu Duan, Yongyi Lu, Song Yan, Lina Qiao, Yimin Hua, Yifei Li, Kaiyu Zhou, Chuan Wang
RATIONALE: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but potentially lethal inherited arrhythmia syndrome induced by adrenergic stress. Due to the atypical clinical manifestations in early age, limited recognition and experience of pediatric cardiologists, and low awareness of the significance of genetic diagnosis in some underdeveloped areas in China, a delayed or missed diagnosis of CPVT in children is common and concerning. PATIENT CONCERNS: A 9-year and 3-month male child with recurrent exercise-induced syncope accompanied by convulsion was initially misdiagnosed as epilepsy since the first manifestation at the age of 3 years...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29650123/interplay-between-genetic-substrate-qtc-duration-and-arrhythmia-risk-in-patients-with-long-qt-syndrome
#18
Andrea Mazzanti, Riccardo Maragna, Gaetano Vacanti, Nicola Monteforte, Raffaella Bloise, Maira Marino, Lorenzo Braghieri, Patrick Gambelli, Mirella Memmi, Eleonora Pagan, Massimo Morini, Alberto Malovini, Martin Ortiz, Luciana Sacilotto, Riccardo Bellazzi, Lorenzo Monserrat, Carlo Napolitano, Vincenzo Bagnardi, Silvia G Priori
BACKGROUND: Long QT syndrome (LQTS) is a common inheritable arrhythmogenic disorder, often secondary to mutations in the KCNQ1, KCNH2, and SCN5A genes. The disease is characterized by a prolonged ventricular repolarization (QTc interval) that confers susceptibility to life-threatening arrhythmic events (LAEs). OBJECTIVES: This study sought to create an evidence-based risk stratification scheme to personalize the quantification of the arrhythmic risk in patients with LQTS...
April 17, 2018: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/29624510/genetic-risk-stratification-in-cardiac-arrhythmias
#19
Carlo Napolitano, Andrea Mazzanti, Silvia G Priori
PURPOSE OF REVIEW: The current article provides a concise summary of the possibilities and limitations of genotype-based risk stratification of cardiac arrhythmias. We will outline the most important findings of the recent years in the light of their chronological and conceptual development. RECENT FINDINGS: Genotype-phenotype association studies in families with single-gene disorders as well as in the general population led to the discovery of several DNA variants significantly associated with the risk of sudden death or life-threatening arrhythmias...
May 2018: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/29619932/mortality-and-morbidity-in-patients-with-osteogenesis-imperfecta-in-denmark
#20
Lars Folkestad
Ostegenesis imperfecta (OI) is a hereditary disease of the connective tissue caused by mutations to, mainly, the genes that are involved in the biosynthesis of collagen type 1. Patients are grouped according to clinical severity and mode of inheritance according to Sillence's classification (originally 1979, updated 2014). According to our data, the population prevalence of OI in Denmark was 10.3 per 100,000, with 575 patients registered with an OI diagnosis in the National Patient Register and alive at the end of 2012 out of a total population of 5,602,628 persons...
April 2018: Danish Medical Journal
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