A síndrome de Andersen (SA) é uma doença rara caracterizada por paralisia muscular periódica, prolongamento do intervalo QT com uma variedade de arritmias ventriculares (levando à predisposição à morte súbita cardíaca) e características físicas características: baixa estatura, escoliose, orelhas baixas, hipertelorismo, raiz nasal larga, micrognatia, clinodactilia, braquidactilia e sindactilia.
Introdução
O que você precisa saber de cara
A síndrome de Andersen (SA) é uma doença rara caracterizada por paralisia muscular periódica, prolongamento do intervalo QT com uma variedade de arritmias ventriculares (levando à predisposição à morte súbita cardíaca) e características físicas características: baixa estatura, escoliose, orelhas baixas, hipertelorismo, raiz nasal larga, micrognatia, clinodactilia, braquidactilia e sindactilia.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 27 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 79 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by external barium. This potassium channel is control
Membrane
Long QT syndrome 13
A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.
Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it (PubMed:36149965, PubMed:7590287, PubMed:9490857). Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages (PubMed:7590287, PubMed:7696590). The inward rectification is mainly due to the blockage of outward current by inter
Cell membraneCell membrane, sarcolemma, T-tubule
Long QT syndrome 7
A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type 7 manifests itself as a clinical triad consisting of potassium-sensitive periodic paralysis, ventricular ectopy and dysmorphic features.
Variantes genéticas (ClinVar)
302 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 545 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
5 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Andersen-Tawil
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
4 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
The importance of comprehensive diagnostic work-up and genetic testing to reveal Andersen-Tawil syndrome-a case report.
Andersen-Tawil syndrome is characterized by a symptom triad of cardiac electrical abnormalities, periodic muscular paralysis, and distinct dysmorphic manifestations. A history of unexplained syncope has been associated with a more serious phenotype with increased risk of life-threatening arrhythmia. Due to the syndrome's rarity and highly variable clinical presentation, diagnosis remains challenging. This report highlights the importance of comprehensive diagnostic workup following a sudden cardiac arrest, particularly emphasizing the value of genetic testing. We present a 61-year-old male hypertensive patient who initially presented with a first-time syncopal episode. Initial investigations revealed ventricular ectopy exceeding 12 000 premature ventricular contractions, occasional QT prolongation of >500 ms, and mildly reduced left ventricular ejection fraction (50%). Outpatient diagnostic investigations did not yield a diagnosis. While awaiting ablation, the patient suffered from an out-of-hospital cardiac arrest and was successfully resuscitated after 17 min. Complete diagnostic work-up including guideline-adherent assessments and genetic testing eventually revealed Andersen-Tawil syndrome. The subsequent family evaluations supported the diagnosis. Diagnosis was unexpected as the patient presented with isolated cardiac manifestations and a late onset of symptoms. Cardiomyopathy and primary arrhythmic disorders were relevant differential diagnoses and investigated during admission. No clinical assessment is pathognomonic for Andersen-Tawil syndrome, making genetic testing essential for establishing a definitive diagnosis. While historically characterized as a long QT variant, research suggests Andersen-Tawil syndrome is its own disease entity. Pharmacological management follows established channelopathy principles, though the protective efficacy of beta-blockers and flecainide remains uncertain in this syndrome.
Case Report of Andersen-Tawil Syndrome: Rare Presentation of a Rare Disease.
Andersen-Tawil syndrome (ATS) is a rare genetic disorder characterized by a triad of periodic paralysis, cardiac arrhythmias, and dysmorphic features, typically presenting in the first two decades of life. A 45-year-old man presented with acute lower motor neuron-type quadriparesis. He reported similar self-resolving episodes over the past 2 years, triggered by rest after exercise. There were no cardiac symptoms, dysmorphic features, or relevant family history. Biochemical evaluation revealed hypokalemia. Genetic testing confirmed a heterozygous nonsense mutation in the KCNJ2 gene (c.13C>T, p.Arg5Ter). Cardiac and dental evaluations were normal. He was treated with potassium supplementation and later acetazolamide, with no recurrence over 2 years. This case highlights a rare adult-onset presentation of ATS without cardiac or dysmorphic features and a negative family history, contributing to the limited adult ATS literature.
Elective percutaneous stellate ganglion block for prediction of the clinical outcome of robotic bilateral cardiac sympathetic denervation in a patient with Andersen-Tawil syndrome: A case report.
Andersen-Tawil syndrome (ATS) is an ultra-rare channelopathy. We report the case of a 35-year-old woman with genetically confirmed ATS. She experienced sudden cardiac arrest. Her medical history was notable for multiple appropriate implantable cardioverter-defibrillator interventions due to ventricular fibrillation and ventricular tachycardia. Numerous premature ventricular contractions were revealed in 24-h Holter ECG monitoring. The arrhythmic episodes were consistently triggered by physical activity, despite multiple antiarrhythmic therapies and two endocardial ablations. A two-step strategy was planned, with the decision to proceed to bilateral cardiac sympathetic denervation (BCSD) based on the outcome of an initial percutaneous stellate ganglion block (PSGB). An elective left-sided percutaneous stellate ganglion block resulted in complete suppression of premature ventricular contractions and improved exercise tolerance. Guided by this response, the patient underwent robotic BCSD, leading to a spectacular reduction of premature beats, disappearance of symptomatic arrhythmias, and normalisation of exercise capacity. No recurrences were observed during the 5-month follow-up. This case is the first to describe elective PSGB as a predictive tool for the efficacy of BCSD in ATS. PSGB may facilitate patient selection for invasive autonomic modulation, offering a novel strategy for refractory inherited channelopathies.
Identification of Kir2.1 Inhibitors from a High-Throughput Screen.
The inward-rectifier potassium channel (Kir) 2.x family is an important family of ion channels in the context of human health. These potassium channels are involved in processes such as cardiac action potential, formation of skeletal muscle, bone development, vasodilation, and neuronal activity and are expressed centrally and peripherally. Given their importance, they are an attractive target for the development of tool compounds. The high homology between the members of the Kir family has made isoform selectivity challenging. In an effort to discover novel chemical matter related to this intriguing target, we performed a high-throughput screen utilizing compounds from the Vanderbilt Institute of Chemical Biology Discovery Collection. This screen of over 20,000 compounds resulted in 48 verified hits consisting of six novel chemical scaffolds. Of these hits, VU0523203 and VU0606851 were selected as promising starting points for initial medicinal chemistry optimization to improve potency and distribution, metabolism, and pharmacokinetic (DMPK) properties. These efforts resulted in the discovery of VU6073995, a compound with modest potency at Kir2.1 and improved DMPK properties compared with ML133.
Perinatal Management of Andersen-Tawil Syndrome Using a Wearable Cardioverter-Defibrillator: A Case Report.
Andersen-Tawil syndrome (ATS), also known as congenital long QT syndrome type 7 (LQT7), is a rare inherited channelopathy caused by KCNJ2 mutations and characterized by ventricular arrhythmias, periodic paralysis, and dysmorphic features. Pregnancy in women with ATS is extremely uncommon, and optimal perinatal management strategies are not well defined. We describe a 38-year-old primigravida with genetically confirmed ATS (p.R228X) who presented at 31 weeks of gestation without medication. During pregnancy, the burden of premature ventricular contractions and non-sustained ventricular tachycardia decreased compared with the pre-pregnancy period. At 36 weeks, atenolol and flecainide were introduced, and a wearable cardioverter-defibrillator (WCD) was applied, further reducing arrhythmias. A planned cesarean section at 37 weeks was uneventful, with favorable maternal and fetal outcomes. Postpartum, arrhythmias increased again, highlighting the importance of surveillance. This case demonstrates that combined pharmacological therapy and temporary WCD use may represent a safe and effective perinatal management strategy in high-risk pregnancies complicated by ATS.
Publicações recentes
Lifestyle and dietary measures in Periodic Paralyses.
Elective percutaneous stellate ganglion block for prediction of the clinical outcome of robotic bilateral cardiac sympathetic denervation in a patient with Andersen-Tawil syndrome: A case report.
Phenotypic Variability in a Family with Andersen-Tawil Syndrome.
Andersen-Tawil syndrome with high-burden ventricular arrhythmias: a case report.
Identification of Kir2.1 Inhibitors from a High-Throughput Screen.
📚 EuropePMC183 artigos no totalmostrando 156
Elective percutaneous stellate ganglion block for prediction of the clinical outcome of robotic bilateral cardiac sympathetic denervation in a patient with Andersen-Tawil syndrome: A case report.
European journal of anaesthesiologyPhenotypic Variability in a Family with Andersen-Tawil Syndrome.
Arquivos brasileiros de cardiologiaAndersen-Tawil syndrome with high-burden ventricular arrhythmias: a case report.
BMC cardiovascular disordersIdentification of Kir2.1 Inhibitors from a High-Throughput Screen.
Assay and drug development technologiesThe importance of comprehensive diagnostic work-up and genetic testing to reveal Andersen-Tawil syndrome-a case report.
European heart journal. Case reportsCase Report of Andersen-Tawil Syndrome: Rare Presentation of a Rare Disease.
Annals of Indian Academy of NeurologyGender-specific cardiac features in Andersen-Tawil syndrome: a comprehensive meta-analysis of case reports and series.
Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacingPerinatal Management of Andersen-Tawil Syndrome Using a Wearable Cardioverter-Defibrillator: A Case Report.
The journal of obstetrics and gynaecology researchCaenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes.
The Journal of physiologyLarge-scale functional assessment of variants of the potassium channel Kir2.1: Clinical and comparative insights.
The Journal of biological chemistryUnlocking the Secrets of Andersen-Tawil Syndrome: The Role of Next-Generation Sequencing in a Family With Long QT Syndrome.
Cardiology research and practiceWhen the U Wave Tells the Story: Andersen-Tawil Syndrome Unmasked.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, IncSUMOylation and an ATS1 variant converge to disrupt PIP2-dependent gating of Kir2.1.
The Journal of general physiologyMuscle Channelopathies and Rhabdomyolysis.
Continuum (Minneapolis, Minn.)Nutritional Factors and Arrhythmic Risk in Long QT Syndrome: A Narrative Review of Mechanistic and Clinical Evidence.
Advances in nutrition (Bethesda, Md.)Broad Electrocardiogram Syndromes Spectrum: From Common Emergencies to Particular Electrical Heart Disorders-Part II.
Diagnostics (Basel, Switzerland)Extreme prolongation of QTU in a patient with Andersen-Tawil syndrome.
Kardiologia polskaFlecainide for the Treatment of Andersen-Tawil Syndrome.
JACC. Clinical electrophysiologyAtomic-level investigation of KCNJ2 mutations associated with ventricular arrhythmic syndrome phenotypes.
Scientific reportsPotassium-sensitive loss of muscle force in the setting of reduced inward rectifier K+ current: Implications for Andersen-Tawil syndrome.
Proceedings of the National Academy of Sciences of the United States of AmericaMechanisms underlying the distinct K+ dependencies of periodic paralysis.
The Journal of general physiologyAtypical Presentation of Andersen-Tawil Syndrome: Heart Failure with Reduced Ejection without Periodic Paralysis or Dysmorphic Features.
European journal of case reports in internal medicineKir2.1 mutations differentially increase the risk of flecainide proarrhythmia in Andersen Tawil Syndrome.
medRxiv : the preprint server for health sciencesA pediatric case of Andersen-Tawil syndrome with slowly progressive myopathy.
Pediatrics international : official journal of the Japan Pediatric SocietyBiochemical, biophysical, and structural investigations of two mutants (C154Y and R312H) of the human Kir2.1 channel involved in the Andersen-Tawil syndrome.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyDevelopment of new Kir2.1 channel openers from propafenone analogues.
British journal of pharmacology[Andersen-Tawil Syndrome, a differential of bidirectional ventricular tachycardia: a case report].
Archivos peruanos de cardiologia y cirugia cardiovascularClinical, myopathological, and genetic features of two Chinese families with Andersen-Tawil syndrome.
Frontiers in neurologyRare electrocardiographic findings in a young woman with acute barium poisoning: A case report.
HeliyonA Late Diagnosis of Andersen-Tawil Syndrome in Teenage Siblings.
Pediatric neurologyPediatric neuromuscular channelopathies.
Handbook of clinical neurologyRare Presentation of Wide QRS Tachycardia in a Patient in Their 40s.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, IncRelevant obstetrics outcomes and gynecology-related clinical data on Andersen-Tawil syndrome.
Taiwanese journal of obstetrics & gynecologyPediatric and Familial Genetic Arrhythmia Syndromes-Evaluation of Prolonged QTc-Differential Diagnosis and what You Need to Know.
Cardiac electrophysiology clinicsPhenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report.
BiomoleculesTranscriptome and open chromatin analysis reveals the process of myocardial cell development and key pathogenic target proteins in Long QT syndrome type 7.
Journal of translational medicineExtracellular Kir2.1C122Y Mutant Upsets Kir2.1-PIP2 Bonds and Is Arrhythmogenic in Andersen-Tawil Syndrome.
Circulation researchKir2.1-NaV1.5 channelosome and its role in arrhythmias in inheritable cardiac diseases.
Heart rhythmAndersen-Tawil syndrome: A long QT syndrome with variable expression.
Medicina clinicaBidirectional Ventricular Tachycardia and Prominent U Waves: Look at Fingers and Muscles and Use Flecainide.
The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAGMuscle MRI in periodic paralysis shows myopathy is common and correlates with intramuscular fat accumulation.
Muscle & nerveA case report of Andersen-Tawil syndrome misdiagnosed with myodystrophy.
Frontiers in neurologyExtracellular cysteine disulfide bond break at Cys122 disrupts PIP2-dependent Kir2.1 channel function and leads to arrhythmias in Andersen-Tawil Syndrome.
bioRxiv : the preprint server for biologyChronic Propafenone Application Increases Functional KIR2.1 Expression In Vitro.
Pharmaceuticals (Basel, Switzerland)Successful cardiac sympathetic denervation for Andersen-Tawil syndrome.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of CardiologyGeneral anesthesia using propofol infusion for implantation of an implantable cardioverter defibrillator in a pediatric patient with Andersen-Tawil syndrome: a case report.
Journal of dental anesthesia and pain medicinePrevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Neuromuscular disorders : NMDCase report: SCN4A p.R1135H gene variant in combination with thyrotoxicosis causing hypokalemic periodic paralysis.
Frontiers in neurologyVentricular bigeminy characterization in 24-h Holter monitoring from Andersen-Tawil patients: An initial proof of concept versus patients with ischemic heart disease.
Journal of electrocardiologyKir2.1 dysfunction at the sarcolemma and the sarcoplasmic reticulum causes arrhythmias in a mouse model of Andersen-Tawil syndrome type 1.
Nature cardiovascular research[A case report of Andersen-Tawil Syndrome with ventricular tachycardia and syncope].
Zhonghua xin xue guan bing za zhiCase report: Mexiletine suppresses ventricular arrhythmias in Andersen-Tawil syndrome.
Frontiers in cardiovascular medicineMolecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome.
Cardiovascular researchA dangerous food binge: a case report of hypokalemic periodic paralysis and review of current literature.
Italian journal of pediatricsBidirectional Ventricular Tachycardia: Challenges and Solutions.
Vascular health and risk managementCongenital Long QT Syndrome: A Review of Genetic and Pathophysiologic Etiologies, Phenotypic Subtypes, and Clinical Management.
Cardiology in reviewPhenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.
European journal of neurologyVariable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome.
GenesEfficacy of flecainide in bidirectional ventricular tachycardia and tachycardia-induced cardiomyopathy with Andersen-Tawil syndrome.
European journal of medical geneticsA peculiar case of palpitations and syncope.
Heart rhythmInwardly Rectifying Potassium Channel Kir2.1 and its "Kir-ious" Regulation by Protein Trafficking and Roles in Development and Disease.
Frontiers in cell and developmental biologyAndersen-Tawil Syndrome With Novel Mutation in KCNJ2: Case Report.
Frontiers in pediatricsAndersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity.
Brain : a journal of neurologyCharacterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.
Frontiers in geneticsAndersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?
European journal of medical geneticsMind the Gap: Acetazolamide Prolonged Periods without Paralysis in a Girl with Andersen-Tawil Syndrome.
Case reports in neurologyCatheter ablation of frequent monomorphic ventricular arrhythmias in Andersen-Tawil syndrome: case report and focused literature review.
Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing[17-year-old patient with polymorphic premature ventricular contractions].
Herzschrittmachertherapie & ElektrophysiologieFailure of radiofrequency catheter ablation and success of flecainide to suppress premature ventricular contractions in Andersen-Tawil syndrome: A case report.
Journal of electrocardiologyA Visual Resolution of Cardiotoxicity: A Case Report of Digoxin-Induced Bidirectional Ventricular Tachycardia.
CureusMarked reduction in paralytic attacks in a patient with Andersen-Tawil syndrome switched from acetazolamide to dichlorphenamide.
Neuromuscular disorders : NMDThe Role of Nutrition and Physical Activity as Trigger Factors of Paralytic Attacks in Primary Periodic Paralysis.
Journal of neuromuscular diseasesNeurologic complications of genetic channelopathies.
Handbook of clinical neurologyBidirectional Ventricular Tachycardia in a Young Female: A Case of Andersen-Tawil Syndrome.
Military medicineDistinctive facial features in Andersen-Tawil syndrome: A three-dimensional stereophotogrammetric analysis.
American journal of medical genetics. Part AThe clinical and genetic heterogeneity analysis of five families with primary periodic paralysis.
Channels (Austin, Tex.)Obstetric management of a patient with Andersen-Tawil syndrome: A case report.
The journal of obstetrics and gynaecology researchFamilial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance.
Brain & developmentAndersen-Tawil syndrome presenting as premenstrual periodic paralysis.
Muscle & nerveAndersen-Tawil Syndrome Presenting with Complete Heart Block.
Journal of neuromuscular diseasesAndersen-Tawil Syndrome with High Risk of Sudden Cardiac Death in Four Mexican Patients. Cardiac and Extra-Cardiac Phenotypes.
Revista de investigacion clinica; organo del Hospital de Enfermedades de la NutricionAndersen-Tawil syndrome associated with myopathy.
World journal of emergency medicineSuccessful treatment of arrhythmia with β-blocker and flecainide combination in pregnant patients with Andersen-Tawil syndrome: A case report and literature review.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, IncAndersen-Tawil Syndrome: A Comprehensive Review.
Cardiology in reviewTreatment Updates for Neuromuscular Channelopathies.
Current treatment options in neurologyCompound heterozygous mutations in KCNJ2 and KCNH2 in a patient with severe Andersen-Tawil syndrome.
BMJ case reportsImpaired cytoplasmic domain interactions cause co-assembly defect and loss of function in the p.Glu293Lys KNCJ2 variant isolated from an Andersen-Tawil syndrome patient.
Cardiovascular researchAn unusual case of recurrent episodes of muscle weakness: Co-occurrence of Andersen-Tawil syndrome and glycogen storage disease type IXd.
Neuromuscular disorders : NMDManaging pregnancy and anaesthetics in patients with skeletal muscle channelopathies.
Neuromuscular disorders : NMDEvery face tells a story-unravelling a case of bidirectional ventricular tachycardia.
Indian pacing and electrophysiology journal"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes.
Advances in geneticsKir2.1 Interactome Mapping Uncovers PKP4 as a Modulator of the Kir2.1-Regulated Inward Rectifier Potassium Currents.
Molecular & cellular proteomics : MCPAndersen-Tawil Syndrome Is Associated With Impaired PIP2 Regulation of the Potassium Channel Kir2.1.
Frontiers in pharmacologyThyrotoxic Periodic Paralysis With Features of Andersen-Tawil Syndrome: A Case Report and Literature Review.
CureusTime to Redefine the Natural History and Clinical Management of Type 1 Andersen-Tawil Syndrome?
Journal of the American College of CardiologyNatural History and Risk Stratification in Andersen-Tawil Syndrome Type 1.
Journal of the American College of CardiologyMitochondrial DNA polymorphisms in Andersen-Tawil syndrome.
Kardiologia polskaPeriodic Paralysis Syndromes: A T3 Thyrotoxicosis Case and Review of Literature.
HCA healthcare journal of medicineAndersen-Tawil syndrome with sex-specific phenotype: Usefulness of the long exercise test.
NeurologiaPhenotypic variability in a series of four pediatric patients with Andersen-Tawil syndrome: A Saudi experience.
International journal of pediatrics & adolescent medicineChild Neurology: Andersen-Tawil syndrome.
NeurologyEpisodic Muscle Disorders.
Continuum (Minneapolis, Minn.)Multivariate analysis of TU wave complex on electrocardiogram in Andersen-Tawil syndrome with KCNJ2 mutations.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, IncTherapeutic management of ventricular arrhythmias in Andersen-Tawil syndrome.
Journal of electrocardiologyFunctional analysis of a double-point mutation in the KCNJ2 gene identified in a family with Andersen-Tawil syndrome.
Journal of the neurological sciencesClinical and neurophysiological variability in Andersen-Tawil syndrome.
Muscle & nerveAndersen-Tawil Syndrome and Hypothyroidism: A Case Report with an Unusual Association.
International journal of applied & basic medical researchIdentification of a PEST Sequence in Vertebrate KIR2.1 That Modifies Rectification.
Frontiers in physiologyUsefulness of the intravenous flecainide challenge test before oral flecainide treatment in a patient with Andersen-Tawil syndrome.
BMJ case reportsDelayed diagnosed atypical case of Andersen-Tawil syndrome.
Neurology internationalBioinformatics characterisation of the (mutated) proteins related to Andersen-Tawil syndrome.
Mathematical biosciences and engineering : MBEAsymptomatic ventricular tachycardia: diagnostic pitfalls of Andersen-Tawil syndrome-a case report.
European heart journal. Case reportsRole of the Purkinje system in heritable arrhythmias.
Heart rhythmA study supporting possible expression of inward-rectifying potassium channel 2.1 channels in peripheral nerve in a patient with Andersen-Tawil syndrome.
Muscle & nerveCoincidence of Andersen-Tawil syndrome and Marfan syndrome: A case report.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, IncVariable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation.
Neurology. GeneticsShort-term response to phenytoin sodium in Andersen-Tawil syndrome-1 with a cardiac-dominant phenotype.
Pacing and clinical electrophysiology : PACECan flecainide totally eliminate bidirectional ventricular tachycardia in pediatric patients with Andersen-Tawil syndrome?
Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidir[Analysis of clinical phenotypes and KCNJ2 gene mutations in a Chinese pedigree affected with Andersen-Tawil syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsA Novel KCNJ2 Mutation Identified in an Autistic Proband Affects the Single Channel Properties of Kir2.1.
Frontiers in cellular neurosciencePrevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands.
Neuromuscular disorders : NMDKir2.1 is important for efficient BMP signaling in mammalian face development.
Developmental biologyAccelerated idioventricular rhythm degenerating into bidirectional ventricular tachycardia following acute myocardial infarction.
The American journal of emergency medicinePropafenone is not effective for severe ventricular arrhythmias in Andersen-Tawil syndrome.
Archives of medical science : AMSNeurophysiologic characterization of periodic paralysis episode in a patient with Andersen-Tawil syndrome.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyDifferent responses to exercise between Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of CardiologyReview of the Diagnosis and Treatment of Periodic Paralysis.
Muscle & nerveSanger sequencing as a first-line approach for molecular diagnosis of Andersen-Tawil syndrome.
F1000ResearchClinical heterogeneity in Andersen-Tawil syndrome.
Neuromuscular disorders : NMDCharacterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients.
BMC medical geneticsFlecainide ameliorates arrhythmogenicity through NCX flux in Andersen-Tawil syndrome-iPS cell-derived cardiomyocytes.
Biochemistry and biophysics reportsFlecainide treats a novel KCNJ2 mutation associated with Andersen-Tawil syndrome.
HeartRhythm case reportsAndersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias - Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene.
Journal of cardiologySpectrum of Nondystrophic Skeletal Muscle Channelopathies in Children.
Pediatric neurologyAndersen-Tawil Syndrome with Early Onset Myopathy: 2 Cases.
Journal of neuromuscular diseasesIntrafamilial phenotypic variability in Andersen-Tawil syndrome: A diagnostic challenge in a potentially treatable condition.
Neuromuscular disorders : NMDReversible Dilated Cardiomyopathy Caused by a High Burden of Ventricular Arrhythmias in Andersen-Tawil Syndrome.
The Canadian journal of cardiologyConcomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case report.
Experimental and therapeutic medicineClinical features and long exercise test in Chinese patients with Andersen-Tawil syndrome.
Muscle & nerve7-T (35)Cl and (23)Na MR Imaging for Detection of Mutation-dependent Alterations in Muscular Edema and Fat Fraction with Sodium and Chloride Concentrations in Muscular Periodic Paralyses.
RadiologyRecurrent syncope in the Andersen Tawil syndrome - Cardiac or neurological?
Indian pacing and electrophysiology journalIdentification of the KCNJ2 Mutation in a Korean Family with Andersen-Tawil Syndrome and Developmental Delay.
Annals of clinical and laboratory scienceBioelectric signalling via potassium channels: a mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen-Tawil Syndrome.
The Journal of physiologyAndersen-Tawil syndrome. A diagnostic challenge.
International journal of cardiologyAn 88-year-old man with syncope and an alternating axis.
Heart (British Cardiac Society)Andersen-Tawil syndrome: A review of literature.
Neurology India[Molecular genetic diagnostics of the cause of ventricular arrhythmias in children].
Ugeskrift for laegerRarity and phenotypic heterogeneity provide challenges in the diagnosis of Andersen-Tawil syndrome: Two cases presenting with ECGs mimicking catecholaminergic polymorphic ventricular tachycardia (CPVT).
International journal of cardiologyAtrial pacing for the management of ventricular arrhythmias in Andersen-Tawil syndrome.
HeartRhythm case reportsCoexistence of Andersen-Tawil Syndrome with Polymorphisms in hERG1 Gene (K897T) and SCN5A Gene (H558R) in One Family.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, IncIdentification and functional characterisation of a novel KCNJ2 mutation, Val302del, causing Andersen-Tawil syndrome.
Canadian journal of physiology and pharmacologyPharmacotherapy for inherited arrhythmia syndromes: mechanistic basis, clinical trial evidence and practical application.
Expert review of cardiovascular therapyCase report: A Chinese child with Andersen-Tawil syndrome due to a de novo KCNJ2 mutation.
Journal of the neurological sciencesImipramine for incessant ventricular arrhythmias in 2 unrelated patients with Andersen-Tawil syndrome.
Heart rhythmIon channelopathies in human induced pluripotent stem cell derived cardiomyocytes: a dynamic clamp study with virtual IK1.
Frontiers in physiologyVanishing Weakness and Persistent Cardiac Dysrhythmia: Are We Dealing with Andersen Tawil Syndrome?
Indian journal of pediatricsAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- The importance of comprehensive diagnostic work-up and genetic testing to reveal Andersen-Tawil syndrome-a case report.
- Case Report of Andersen-Tawil Syndrome: Rare Presentation of a Rare Disease.
- Elective percutaneous stellate ganglion block for prediction of the clinical outcome of robotic bilateral cardiac sympathetic denervation in a patient with Andersen-Tawil syndrome: A case report.
- Identification of Kir2.1 Inhibitors from a High-Throughput Screen.
- Perinatal Management of Andersen-Tawil Syndrome Using a Wearable Cardioverter-Defibrillator: A Case Report.
- Lifestyle and dietary measures in Periodic Paralyses.
- Phenotypic Variability in a Family with Andersen-Tawil Syndrome.
- Andersen-Tawil syndrome with high-burden ventricular arrhythmias: a case report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:37553(Orphanet)
- OMIM OMIM:170390(OMIM)
- MONDO:0008222(MONDO)
- GARD:9453(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q773118(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
