A síndrome microcefalia-hipoplasia cerebelar-defeito de condução cardíaca é uma síndrome dismórfica/anomalias congênitas genéticas raras caracterizada por falha de crescimento, atraso global no desenvolvimento, deficiência intelectual profunda, comportamentos autistas, bloqueio cardíaco adquirido de segundo grau com bradicardia e instabilidade vasomotora. Mãos e pés apresentam dedos fusiformes longos, campto-clinodactilia e dedos apinhados, enquanto o dismorfismo craniofacial inclui microcefalia, testa larga, sobrancelhas finas, fissuras palpebrais inclinadas para cima, orelhas grandes com antélice proeminente, nariz proeminente, filtro longo, lábio superior fino vermelhão e lábio inferior proeminente. Os sinais neurológicos incluem hipotonia, reflexos rápidos, movimentos do tipo distônico e ataxia troncular e os exames de imagem mostram hipoplasia cerebelar e padrão giral simplificado.
Introdução
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A síndrome microcefalia-hipoplasia cerebelar-defeito de condução cardíaca é uma síndrome dismórfica/anomalias congênitas genéticas raras caracterizada por falha de crescimento, atraso global no desenvolvimento, deficiência intelectual profunda, comportamentos autistas, bloqueio cardíaco adquirido de segundo grau com bradicardia e instabilidade vasomotora. Mãos e pés apresentam dedos fusiformes longos, campto-clinodactilia e dedos apinhados, enquanto o dismorfismo craniofacial inclui microcefalia, testa larga, sobrancelhas finas, fissuras palpebrais inclinadas para cima, orelhas grandes com antélice proeminente, nariz proeminente, filtro longo, lábio superior fino vermelhão e lábio inferior proeminente. Os sinais neurológicos incluem hipotonia, reflexos rápidos, movimentos do tipo distônico e ataxia troncular e os exames de imagem mostram hipoplasia cerebelar e padrão giral simplificado.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
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Os sinais que médicos procuram e os exames que confirmam
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Publicações mais relevantes
Clinical profile and prognosis of brugada syndrome SCN5A variant carriers with negative sodium channel blocker challenge.
Loss-of-function (LOF) variants in SCN5A are associated with Brugada syndrome (BrS), progressive conduction slowing, and other arrhythmias. While the prognosis of SCN5A carriers with a positive sodium channel blocker challenge (SCBC) is established, data on those with negative SCBC are limited. To assess the clinical presentation and prognosis of SCN5A variant carriers with negative SCBC, and compare them to relatives with positive SCBC. We retrospectively included patients from five university hospitals (2000-2024) carrying a pathogenic or likely pathogenic SCN5A variant and negative SCBC. Relatives with the same variant and positive SCBC were also analysed. Patients with spontaneous type 1 ECG, gain-of-function variants, double variants, or ACMG class 1-3 variants were excluded. Clinical, ECG, genetic, and follow-up data were collected. Conduction slowing was evaluated using the PR interval and QRS duration. The cohort included 162 patients from 43 families (median age 37 ± 19 years, 46% male), of whom 69 (43%) had negative SCBC. Among these 69 patients, 25 (36%) had baseline intraventricular conduction defects, and 19 (28%) had first-degree AV block. After a median follow-up of 75 [40-168] months, 52% of patients developed progressive conduction slowing. Negative SCBC patients had fewer conduction defects (36% vs. 70%, p = 0.002) and ICD implantations (1% vs. 23%, P < 0.001). Non-missense variants were associated with more conduction slowing (71% vs. 42%, P = 0.04). This multicentre study provides the largest analysis of SCN5A carriers with negative SCBC, showing excellent arrhythmic prognosis despite frequent progressive conduction slowing.
QT Myopia and Cardiac Safety: Expanding the Aperture of Arrhythmia Assessment in Early Phase Drug Development.
Regulatory agencies such as the Food and Drug Administration (FDA), European Medicines Agency (EMA), Health Canada, and the Japanese Pharmaceutical and Medical Device Agency (PMDA) provide scientific and public health guidance with cardiac safety being paramount in drug development of new investigational products (IP). Cardiac safety is not a singular undertaking but rather encompasses many elements to be considered beyond measurement of the QT interval before a candidate drug receives regulatory approval. These safety assessments may include evaluation of additional targeted and non-targeted cardiovascular effects such as whether the IP mediates cardiac or pericardial inflammation or affects blood pressure, the coronary or systemic vasculature, heart valves, or cardiac muscle. Historically, the primary cardiac safety concern of regulators was the proarrhythmic risk of new chemical entities and has been centered on the QT interval as a marker of a drug's ability to delay ventricular repolarization and its potential to precipitate lethal ventricular rhythms. Beyond this biomarker, there has only been tangential focus on the PR and QRS intervals, conduction disturbances and supraventricular arrhythmias, and formal regulatory guidance pertaining to these findings has not been published. Hence, this review is designed to expand the myopic view of cardiac safety beyond the QT interval and highlight the importance of clinical nonlethal arrhythmias and conduction abnormalities involving novel non-antiarrhythmic small molecules for which more robust monitoring and surveillance should be contemplated.
Characterization of an induced pluripotent stem cell line from a long QT syndrome type 1 patient possessing the KCNQ1 c.691C > T (p.Arg231Cys) variant.
Long QT syndrome type 1 (LQT1), the most prevalent subtype, is attributed to variants in KCNQ1, and is characterized at the cell level by diminished slow delayed rectifier potassium current and disrupted cardiomyocyte repolarization. At the patient level, impaired ventricular repolarization prolongs the QT interval on the electrocardiogram and is associated with life-threatening arrhythmias, often precipitated by physical exertion. Here, an induced pluripotent stem cell line was reprogrammed from an individual carrying the KCNQ1 c.691C > T (p.Arg231Cys) variant with a family history of sudden death; the line demonstrates normal stem cell morphology and karyotype, differentiation capacity, and pluripotency, enabling disease modeling.
A Phase I Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Fenebrutinib and Effect on the QT/QTc Interval in Healthy Participants.
Fenebrutinib is a Bruton's tyrosine kinase inhibitor under investigation for the treatment of multiple sclerosis. The goal of this study was to investigate the effect of fenebrutinib on cardiac repolarization (QT interval) as well as its safety, tolerability, and pharmacokinetics in healthy participants. Part A was a randomized, double-blind, placebo-controlled, single-ascending dose study of therapeutic (400 mg) and supratherapeutic (700 mg) doses of fenebrutinib. Part B was a randomized, double-blind, single-dose, four-way crossover study that included both therapeutic and supratherapeutic fenebrutinib doses, a positive control (moxifloxacin 400 mg), and placebo. The QT interval was corrected for heart rate using the Fridericia formula (QTcF). Part A (n = 16) showed that both doses were well tolerated, with no serious adverse events (AEs), AEs of special interest, or Grade ≥ 2 AEs. In Part B (n = 85), all upper bounds (UBs) of one-sided 95% confidence intervals (CIs) for the least squares mean placebo-adjusted ΔQTcF (ΔΔQTcF) values were < 10 ms; maximum observed values were 5.3 and 8.2 ms at 1 h after the therapeutic and supratherapeutic doses, respectively. All predefined timepoints after moxifloxacin administration had a 99% CI lower bound of ΔΔQTcF of > 5 ms, which confirmed assay sensitivity. In the regression analysis, UBs of one-sided 95% CIs for ΔΔQTcF at the maximum concentration of fenebrutinib were < 10 ms: 4.4 and 7.8 ms with the therapeutic and supratherapeutic doses, respectively. Overall, both doses of fenebrutinib had no clinically meaningful impact on QT interval and were well tolerated, supporting fenebrutinib's favorable safety profile and continued clinical development.
Silencing the Mutant KCNH2 Allele to Reduce the Effects of Long QT Syndrome Type 2.
Long-QT syndrome type 2 (LQTS2), which is associated with life-threatening cardiac arrhythmias, is caused by pathogenic heterozygous loss-of-function mutations in the KCNH2 gene. This gene encodes the pore-forming Kv11.1 α-subunit of the ion channel that carries the rapid delayed rectifier potassium current (IKr). Pathogenic loss-of-function mutations reduce the amplitude of IKr, thereby prolonging the action potential (AP) of ventricular cardiomyocytes, and in turn, the QT interval of the electrocardiogram (ECG). The aim of the present in silico study was to test the extent to which allele-specific suppression ('silencing') of the mutant KCNH2 allele can alleviate the effects of dominant-negative LQTS2 mutations. Two recent and comprehensive models of the electrical activity of a single human ventricular cardiomyocyte, i.e., the 'Bartolucci-Passini-Severi model as published in 2020' and the 'Tomek-Rodriguez model following the O'Hara-Rudy dynamic (ORd) model' (known as the BPS2020 and ToR-ORd models, respectively) were used to assess the effects of mild and severe LQTS2 mutations on the AP duration at 90% repolarization (APD90) and the APD90 restitution obtained with an S1-S2 pacing protocol. For severe mutations, the mutation-induced prolongation of the APD90 at a stimulation rate of 1 Hz is reduced from 166% to 99% in the BPS2020 model and from 111% to 71% in the ToR-ORd model upon 70% suppression of the mutant allele. For mild mutations, this prolongation is reduced from 77% to 44% and from 57% to 34%, respectively. An even greater effect is observed when the mutant KCNH2 allele is inhibited by up to 90%, but the greater suppression is only marginal for mild mutations. The steepness of the mutant APD90 restitution curves is considerably reduced upon suppression, which may exert an anti-arrhythmic effect. Silencing of the mutant allele can substantially, but only partially, counteract the effects of mild or severe LQTS2 mutations on IKr. Allele-specific inhibition of the mutant KCNH2 allele alone is not sufficient to fully treat the effects of LQTS2 mutations and should be accompanied by a replacement gene therapy, creating a suppression-and-replacement ("SupRep") gene therapy.
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MEPPC Syndrome: A Systematic Review and State-of-the-Art Paper.
[BRASH syndrome: the vicious cycle of bradycardia, hyperkalemia and renal failure].
A Typical ECG Presentation and Intracardiac Mapping of Bayes Syndrome.
📚 EuropePMCmostrando 199
Thorough QT Study on the Effect of Therapeutic and Supratherapeutic Dosing of Givinostat in Healthy Volunteers.
Clinical pharmacology in drug developmentSex-specific short- and long-term outcomes in patients with leadless cardiac pacemakers.
Clinical research in cardiology : official journal of the German Cardiac SocietyLong-term changes in QT interval in hemodialysis patients.
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The Journal of the Association of Physicians of IndiaClinical profile and prognosis of brugada syndrome SCN5A variant carriers with negative sodium channel blocker challenge.
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International journal of cardiologyPopulation Modeling Approach for Human Cardiac Arrhythmia Risk Prediction.
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The American journal of case reports[Wolff-Parkinson-White syndrome : Comparison of different algorithms].
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The Journal of biological chemistryAcupuncture combined with modified Zhi Gan Cao decoction in the treatment of frequent premature ventricular contractions.
MedicineProlonged Corrected QT Interval Is Associated with Lower Incidence of Maternal Hypotension During Spinal Anesthesia in Cesarean Delivery: A Prospective Observational Study.
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PLoS computational biologyConcentration-QTc Analysis of Valemetostat in Patients With Hematologic Malignancies.
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Molecular genetics & genomic medicineTime to Benefit of Epicardial Ablation in Malignant Forms of Brugada Syndrome: A Reconstructed Individual Patient Data Meta-Analysis.
Journal of cardiovascular electrophysiologyProminent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.
Heart rhythmDisrupted binding dynamics of the CaMD130G mutant to Cav1.2 channels: Implications for long QT syndrome pathogenesis.
European journal of pharmacologyA case of congenital long QT syndrome and medically induced menopause.
Post reproductive healthECG Changes Associated With Antipsychotic Use: A Case Vignette From the Emergency Department.
Advanced emergency nursing journalAnterior ST Elevation Post-WPW Ablation: A Case of Long-Term Electrotonic Modulation.
Pacing and clinical electrophysiology : PACEDrug-Induced QT Prolongation: Associations Between Risk Classifications in a Swedish Clinical Decision Support System and Clinical Outcomes.
Clinical pharmacology and therapeuticsFamilial risk of Wolff-Parkinson-White syndrome: a nationwide family study in Sweden.
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 CardiologyCalmodulinopathies: the need for a registry.
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 CardiologyCardiac Channelopathies in the Pediatric Patient: Brugada Syndrome.
Cardiac electrophysiology clinicsCardiac Channelopathies in the Pediatric Patient: The Ryanodine Receptor Related Inherited Cardiac Syndromes.
Cardiac electrophysiology clinicsCardiac Channelopathies in the Pediatric Patient: Long QT Syndrome.
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Cardiac electrophysiology clinicsA case report of sinus node-sparing hybrid ablation for refractory sinus tachycardia following cardioneuroablation for sinus node dysfunction.
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Journal of pharmacokinetics and pharmacodynamicsFunctional Profiling of KCNE1 Variants Informs Population Carrier Frequency of Jervell and Lange-Nielsen Syndrome Type 2.
Circulation. Genomic and precision medicineOptimizing Peri-Operative Pain Management in Children With Long QT Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia Undergoing Left Cardiac Sympathetic Denervation: A Case Series on Continuous Erector Spinae Plane Block and Serratus Plane Block.
Paediatric anaesthesiaAccuracy of Left Bundle Branch Block Chronology and Electrocardiography Criteria for Acute Myocardial Infarction Diagnosis: A Systematic Review and Meta-analysis.
Arquivos brasileiros de cardiologiaPolyneuropathy in Wild-Type Transthyretin Amyloidosis.
European journal of neurologySepsis related Brugada syndrome in community acquired pneumonia due to Legionella pneumophila: a case report.
BMC pulmonary medicineSocioeconomic Status, Race, and Ethnicity in Management of Pediatric Supraventricular Tachycardia.
Journal of the American Heart AssociationWolff-Parkinson-White syndrome: a masquerading clinical condition in an 8-year-old Nigerian girl.
BMC cardiovascular disordersMEPPC Syndrome: A Systematic Review and State-of-the-Art Paper.
Circulation. Arrhythmia and electrophysiologyCRYAB Missense Mutation Reveals Shared Pathogenesis of Familial Cardiomyopathy and Arrhythmia.
GenesAssessing the Cardiac Safety of a Multimodal Protocol for 'Tranq Dope' Withdrawal: A Retrospective QTc Analysis.
The American journal of emergency medicineMolecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange-Nielsen syndrome.
Channels (Austin, Tex.)Corrected QT Intervals in the Pediatric Emergency Department: Don't Be Misled.
Pediatric emergency careBeta-blocker prescription adherence of children and young people with long QT syndrome: a retrospective cohort study.
Cardiology in the young[Research progress on cardiac L-type calcium channel mutations in Brugada syndrome and early repolarization syndrome].
Zhonghua xin xue guan bing za zhiVentricular Tachycardia Due to Blanking of a Premature Ventricular Contraction.
Pacing and clinical electrophysiology : PACEQTc prolongation and torsades de pointes (TdP) in individuals undergoing methadone maintenance treatment (MMT): A systematic review and meta-analysis.
MedicineDual-Patch Technique with Ventricular Septal Defect Closure for Straddling Chordae.
Interdisciplinary cardiovascular and thoracic surgeryWhen 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, IncEvaluation of clinical cardiac safety of zilurgisertib, an activin receptor-like kinase-2 (ALK2) inhibitor, in healthy participants.
Clinical pharmacology in drug developmentEpigenetic regulation of electromechanical continuity might determine phenotypic heterogeneity in SCN5A mutation carriers in Brugada syndrome.
Scientific reportsQT prolongation and excessive variability predicts new-onset atrial fibrillation in the health screening data of Japanese adults.
PloS oneEffect of a patient-specific QTc alert on decreasing prescribing of QTc-prolonging medications in outpatients.
American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System PharmacistsRapid recovery after four months of near-tetraplegia: A case report of pan-neurofascin nodopathy and a brief review of emerging questions.
Clinical neurophysiology practiceCharacterization of a Splice-Altering Variant in SCN5A Associated With Brugada Syndrome - Insights Into Splice Error Correction.
Circulation journal : official journal of the Japanese Circulation SocietyConcentration-QTc Modeling to Support Clinical Development of Fezolinetant.
Clinical pharmacology in drug developmentImplantable cardioverter defibrillators for long QT syndrome and catecholaminergic polymorphic ventricular tachycardia? (Not so fast, Louis).
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 CardiologyAssociations between exposure to air pollutants and QT interval change: A comprehensive systematic review.
Environmental researchApplication of the QT nomogram to ECG monitoring of QT prolongation in arsenic trioxide for acute promyelocytic myeloid leukaemia.
Leukemia & lymphomaMultiple anthropometric characteristics and Brugada syndrome: A Mendelian randomization study.
MedicineChoroidal neovascularization in a teenager with Kearns Sayre syndrome.
Ophthalmic geneticsSUMOylation and an ATS1 variant converge to disrupt PIP2-dependent gating of Kir2.1.
The Journal of general physiologyAssessment of QT Interval Prolongation Using Concentration-QT Modeling for Iptacopan, an Oral Complement Factor B Inhibitor, in Healthy Individuals.
Clinical and translational scienceNo Evidence of QTc Interval Prolongation With Baxdrostat Treatment: Concentration-QTc Modeling Assessment.
Pharmacology research & perspectivesProspective National Audit of the Anesthetic Management of Children With Long QT Syndrome.
Paediatric anaesthesiaCardiac transplant outcomes in a pediatric patient with novel homozygous variants in TOP3Α causing mitochondrial dysfunction.
Molecular genetics and metabolism[Wrist-ankle acupuncture for functional frequent premature ventricular contractions: a randomized controlled trial].
Zhongguo zhen jiu = Chinese acupuncture & moxibustionGeneration of human induced pluripotent stem cell lines from a fetus with congenital long QT syndrome and her healthy parents.
Stem cell researchInteratrial Block Detected by a Series of ECGs Before and During Acute Coronary Syndrome Predicts Atrial Fibrillation, Atrial Flutter, and Ischemic Stroke.
Journal of the American Heart AssociationNovel presentation of CACNA1C variant as neonatal complete atrioventricular block, heart failure and non-compaction cardiomyopathy with oligogenic influences.
Journal of electrocardiologyNovel Loss-of-Function Variant, Cys1384Phe, in SCN5A Is Associated With an Overlapping Phenotype of Brugada Syndrome, Sick Sinus Syndrome, and Dilated Cardiomyopathy.
Circulation journal : official journal of the Japanese Circulation SocietyEpicardial pacemaker implantation in a young cat with sick sinus syndrome.
Journal of veterinary cardiology : the official journal of the European Society of Veterinary CardiologyPan-immune-inflammation value predicts sustained ventricular arrhythmias in NSTEMI: a novel inflammatory risk marker.
Acta clinica BelgicaROS-induced degradation of hERG potassium channels contributes to aripiprazole-induced prolongation of the QTc interval.
Acta pharmacologica SinicaIdiopathic right ventricular outflow tract ventricular tachycardia-induced cardiomyopathy masquerading as MIS-C-associated myocarditis in a child.
BMJ case reportsA MATLAB Algorithm to Automatically Estimate the QT Interval and Other ECG Parameters and Validation Using a Machine Learning Approach in Congenital Long-QT Syndrome.
Journal of cardiovascular translational researchHigh-throughput screens identify genotype-specific therapeutics for channelopathies.
JCI insightSoftware-based analysis of T-wave morphology: identifying the electrocardiogram signature of high-risk long QT 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 CardiologyDistinct patterns of ventricular fibrillation onset in primary electrical diseases: insights from a retrospective multicentre registry.
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 CardiologyDelayed QT prolongation and electrical storm following cardioversion.
Journal of electrocardiologySpectrum of genetic variants detected in children tested for long QT syndrome.
BMC cardiovascular disordersIntermittent fixed preexcitation: What is the mechanism?
Journal of electrocardiologyOptimization strategy for modeling sick sinus syndrome in rats: Balancing effect and animal care.
Journal of pharmacological and toxicological methodsAssessment of pharmacist-driven QT interval prolongation in cardiac patients: Application of Framingham's heart rate corrected QT interval formula and the Tisdale risk score.
Pakistan journal of pharmaceutical sciencesNutritional Factors and Arrhythmic Risk in Long QT Syndrome: A Narrative Review of Mechanistic and Clinical Evidence.
Advances in nutrition (Bethesda, Md.)Seizure-Syncope: Clinical implications from two Chinese CPVT children with two novel RYR2 variants.
GeneLeft bundle branch area pacing in patients requiring permanent pacemaker implantation after transcatheter aortic valve replacement.
Kardiologia polskaGerbode defect resulting from ineffective treatment of infective endocarditis: a case report.
Cardiovascular ultrasoundLeft bundle branch block on flecainide in Wolff-Parkinson-white syndrome.
Journal of electrocardiologyCannabis-Induced Cardiac Arrest in a Young Adult: A Case Report.
The American journal of case reportsImpact of high-grade atrioventricular block on outcomes in patients with acute myocardial infarction.
European heart journal. Acute cardiovascular careVentricular preexcitation in hypertrophic cardiomyopathy: Coincidence, clue, or concern?
Journal of electrocardiologyImpact of prolonged and short QT intervals on immediate risks of newly diagnosed arrhythmias and mortality: A retrospective study.
MedicineNanomachine-Based Flexible Bubbles for Alleviating Long QT Syndrome.
Advanced healthcare materialsAsymptomatic Complete Heart Block in an Adult with Down's Syndrome and Structurally Normal Heart: A Rare Association.
Annals of African medicineAutoimmune antibodies in arrhythmia: a narrative review of potential therapeutic targets to prevent overtreatment.
Cardiovascular diagnosis and therapyIs anaemia associated with QTc prolongation? A retrospective cross-sectional analysis from a rural population-based cohort.
BMJ openGeneration of three induced pluripotent stem cell lines from a long QT syndrome type 2 family harboring the pathogenic KCNH2 c.209A > G (p.His70Arg) variant.
Stem cell researchAssociações
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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.
- Clinical profile and prognosis of brugada syndrome SCN5A variant carriers with negative sodium channel blocker challenge.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 Cardiology· 2026· PMID 41812135mais citado
- QT Myopia and Cardiac Safety: Expanding the Aperture of Arrhythmia Assessment in Early Phase Drug Development.
- Characterization of an induced pluripotent stem cell line from a long QT syndrome type 1 patient possessing the KCNQ1 c.691C > T (p.Arg231Cys) variant.
- A Phase I Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Fenebrutinib and Effect on the QT/QTc Interval in Healthy Participants.
- Silencing the Mutant KCNH2 Allele to Reduce the Effects of Long QT Syndrome Type 2.
- One ECG with 2 Rare Findings: Wellens Syndrome With Prolonged QT Interval in Acute Myocardial Infarction Due to LAD Occlusion.
- Novel systemic vasculo-cardiac syndrome following nuvaring initiation: Persistent tachycardia, raynaud-like episodes, and elevated D-dimer.
- MEPPC Syndrome: A Systematic Review and State-of-the-Art Paper.
- [BRASH syndrome: the vicious cycle of bradycardia, hyperkalemia and renal failure].
- A Typical ECG Presentation and Intracardiac Mapping of Bayes Syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:329332(Orphanet)
- OMIM OMIM:614407(OMIM)
- MONDO:0013735(MONDO)
- GARD:17502(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55784320(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