Uma doença genética do coração caracterizada por um eletrocardiograma (ECG) de rotina que mostra que o coração leva mais tempo do que o normal para "recarregar" entre um batimento e outro (o que chamamos de "intervalo QT" prolongado). Essa condição também apresenta um alto risco de causar arritmias (batimentos cardíacos irregulares) que podem ser muito perigosas para a vida.
Introdução
O que você precisa saber de cara
A síndrome de Timothy é um distúrbio raro que afeta principalmente o coração, mas pode afetar muitas outras áreas do corpo. A gravidade desta condição varia entre as pessoas com a condição, embora frequentemente seja potencialmente fatal.
A síndrome de Timothy é caracterizada por uma condição cardíaca chamada síndrome do QT longo, que faz com que o músculo do coração (cardíaco) demore mais que o normal para recarregar entre os batimentos. Essa anomalia no sistema elétrico do coração pode causar graves anomalias do ritmo cardíaco (arritmias), que podem levar à morte súbita. Algumas pessoas com a síndrome de Timothy também nascem com defeitos estruturais do coração (cardiomiopatia) que afetam a capacidade do coração de bombear sangue de forma eficaz.
Como resultado desses graves problemas cardíacos, algumas pessoas com a síndrome de Timothy vivem apenas até a infância. Em cerca de 80 por cento dos casos de síndrome de Timothy, a causa da morte é uma forma grave de arritmia chamada taquicardia ventricular, na qual as câmaras inferiores do coração (os ventrículos) batem anormalmente rápido, frequentemente levando à parada cardíaca (o coração para de bater repentinamente) e à morte súbita.
A síndrome de Timothy também é caracterizada por membrana ou fusão da pele entre alguns dedos das mãos ou dos pés (síndactilia cutânea). Cerca de metade das pessoas com a condição apresentam características faciais distintas, como ponte nasal achatada, orelhas baixas, maxila superior pequena e lábio superior fino. Crianças com essa condição têm dentes pequenos e fora de posição e cáries frequentes (cáries dentárias). Sinais e sintomas adicionais da síndrome de Timothy podem incluir calvície ao nascer, tônus muscular baixo (hipotonia), infecções frequentes, episódios de baixa glicose no sangue (hipoglicemia) e temperatura corporal anormalmente baixa (hipotermia). O sistema respiratório e o trato gastrointestinal também podem ser afetados.
Características neuropsiquiátricas também são comuns em indivíduos com a síndrome de Timothy. Pesquisadores descobriram que muitas crianças com a síndrome de Timothy apresentam as características típicas dos transtornos do espectro autista. As crianças com a condição tendem a ter habilidades de comunicação e socialização prejudicadas, bem como desenvolvimento atrasado da fala e da linguagem. A coordenação deficiente também é frequente nas pessoas com a condição. Outros distúrbios do sistema nervoso que podem ocorrer na síndrome de Timothy incluem transtorno de déficit de atenção/hiperatividade, deficiência intelectual e crises recorrentes (epilepsia); algumas pessoas com a condição têm epilepsia fotosensível, na qual as crises são desencadeadas por luzes piscantes.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoUma doença genética do coração caracterizada por um eletrocardiograma (ECG) de rotina que mostra que o coração leva mais tempo do que o normal para "recarregar" entre um batimento e outro (o que chamamos de "intervalo QT" prolongado). Essa condição também apresenta um alto risco de causar arritmias (batimentos cardíacos irregulares) que podem ser muito perigosas para a vida.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 42 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 141 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
21 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Curadoria gene-doença
fontes oficiaisVentricular tachycardia, catecholaminergic polymorphic, 4
An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT4 inheritance is autosomal dominant.
Holt-Oram syndrome
Developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects.
Nephrotic syndrome 22
A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS22 is an autosomal recessive, steroid-resistant form characterized by onset of progressive kidney dysfunction in infancy.
Cardiac arrhythmia syndrome, with or without skeletal muscle weakness
An autosomal recessive cardiac disorder characterized by stress-induced arrhythmias in infancy or early childhood. Patients present with recurrent syncope or cardiac arrest after physical activity or emotional stress. Sudden death may occur in early childhood. Some patients have muscle weakness.
Episodic pain syndrome, familial, 2
An autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities.
Long QT syndrome 2
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. Deafness is often associated with long QT syndrome type 2.
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.
Long QT syndrome 11
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 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.
Long QT syndrome 6
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.
Progressive familial heart block 1A
A cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death.
Long QT syndrome 15
A form of long QT syndrome, 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.
Timothy syndrome
Disorder characterized by multiorgan dysfunction including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities and autism.
HyperCKmia
Characterized by persistent elevated levels of serum creatine kinase without muscle weakness.
Ventricular tachycardia, catecholaminergic polymorphic, 6
An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, seizures, or sudden death after physical activity or emotional stress. CPVT6 inheritance is autosomal dominant.
Long QT syndrome 1
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 4
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 4 shows many atypical features compared to classical long QT syndromes, including pronounced sinus bradycardia, polyphasic T waves and atrial fibrillation. Cardiac repolarization defects may be not as severe as in classical LQT syndromes and prolonged QT interval on EKG is not a consistent feature.
Long QT syndrome 12
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 10
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.
Jervell and Lange-Nielsen syndrome 2
An autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death.
Medicamentos e terapias
Mecanismo: Sodium channel protein type V alpha subunit blocker
Mecanismo: Cystic fibrosis transmembrane conductance regulator positive modulator
Mecanismo: Cystic fibrosis transmembrane conductance regulator stabiliser
Mecanismo: Estrogen receptor beta agonist
Mecanismo: HERG blocker
Variantes genéticas (ClinVar)
334 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 979 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
59 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 QT longo familiar congênito
Centros de Referência SUS
24 centros habilitados pelo SUS para Síndrome QT longo familiar congênito
Centros para Síndrome QT longo familiar congênito
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
QTc measurement using Apple Watch electrocardiogram in congenital long QT syndrome.
In congenital long QT syndrome (cLQTS), monitoring of the heart rate-corrected QT interval (QTc) is essential as even transient prolongation can significantly increase the risk of torsades de pointes and sudden cardiac death. Apple Watch (AW) offers a single-lead mobile electrocardiogram (mECG), but its accuracy for QTc monitoring remains uncertain. The objective is to analytically validate AW mECGs for QTc measurement in paediatric and adult cLQTS patients, assessing agreement, systematic bias, and lead-specific feasibility compared with standard 12-lead ECG. In this cross-sectional, dual-centre study, patients with cLQTS underwent consecutive 12-lead ECG, followed by mECG recordings of Leads I and II. QT intervals were measured by two blinded investigators, and accuracy was evaluated using Bland-Altman analysis. The study was deemed exempt from formal ethical approval by the Medical Ethics Committee of the Amsterdam UMC. Of 101 patients enrolled, 99 had ECGs suitable for QTc analysis; 15 (15.2%) were younger than 18 years and 62 (62.6%) were female. On 12-lead ECG, the mean QTc was 444.9 ± 30.2 ms (Lead I) and 449.0 ± 29.8 ms (Lead II), compared with 466.6 ± 28.9 ms (Lead I) and 470.0 ± 29.8 ms (Lead II) on mECG. The mean QTc difference (12-lead-AW) was -21.7 ms (95% limits of agreement: -53.1-9.7) for Lead I and -21.0 ms (-59.5-17.5) for Lead II. In patients with cLQTS, AW-derived mECGs may complement, but not replace, standard 12-lead ECGs for QTc assessment, pending further validation in longitudinal and unsupervised settings.
KCNH2 Duplication Variant (c.2164_2181dup) Associated with Sudden Cardiac Death in a Family with Congenital Long QT Syndrome.
Congenital Long QT syndrome (LQTS) is an inherited arrhythmogenic disorder characterized by prolonged QTc intervals and T-wave abnormalities on electrocardiogram (ECG). Prolonged QT intervals can lead to syncope, seizures, torsades de pointes, and sudden cardiac death. There are several genes, including KCNH2, known to be associated with congenital LQTS, and genetic variations in KCNH2 are known to cause a reduction in the delayed rectifier potassium current (IKr). Clinical genetic testing and variant reclassification were performed by Blueprint Genetics. The functional effect of the KCNH2 variant was quantified using a calibrated automated patch clamp electrophysiology assay. Here, we discuss a case in which post-mortem genetic testing of a 34-year-old woman revealed a variant of uncertain significance (VUS) (c.2164_2181dup) in KCNH2. Subsequent cascade genetic testing in her father and brother identified the same VUS, and both showed evidence of clinical LQTS. Patch clamp analysis shows c.2164_2181dup causes a severe loss-of-function phenotype and can be assigned with a strong level of functional evidence (PS3) for VUS reclassification. Together with previous reports of LQTS associated with c.2164_2181dup, the phenotypes observed in this family, and the strong level of functional evidence obtained from patch clamp analysis, c.2164_2181dup has been clinically reclassified as likely pathogenic.
Fetal Long QT Syndrome: Case Series and Literature Review With Focus on Multidisciplinary Care Coordination.
Congenital long QT syndrome (LQTS) is a group of heritable conditions that are associated with cardiac repolarization abnormality characterized by QT prolongation on ECG and risk of life-threatening arrhythmias. Prenatal detection of LQTS presents many challenges for clinicians and a multidisciplinary approach is needed for optimal prenatal and postnatal management. We describe five cases of fetal diagnosis of LQTS with variable initial presentation, diagnostic strategies, and management approaches. A multidisciplinary team approach including fetal cardiologist, adult and pediatric electrophysiologists, medical physicists, neonatologists, maternal-fetal medicine specialists, fetal cardiac nurse coordinators, and genetic counselors allowed for comprehensive prenatal management and well-planned postnatal treatment to optimize neonatal and maternal outcomes.
Newborn With Abnormal ECG and Family History of Sudden Cardiac Arrest.
Congenital long QT syndrome (LQTS) is a cardiac channelopathy caused by mutations in cardiac ion channel genes, leading to delayed ventricular repolarization, QT interval prolongation, and risk of malignant arrhythmias and sudden cardiac death. The condition often presents during childhood or adolescence but can be identified in neonates, particularly when there is a positive family history. Early recognition is critical, as timely intervention with beta-blockers and avoidance of QT-prolonging medications can prevent life-threatening events. We report the case of a full-term neonate born via cesarean section to a mother with congenital long QT syndrome (LQT2) and a strong family history of arrhythmic events. On day 1 of life, screening electrocardiogram (ECG) revealed a markedly prolonged corrected QT (QTc) prompting neonatal intensive care unit admission for further monitoring and evaluation. Propranolol was initiated, resulting in gradual QTc improvement over the first week of life. Genetic testing confirmed LQT2, with a pathogenic KCNH2 variant identified. The infant remained clinically stable and asymptomatic throughout hospitalization. The diagnosis of LQTS relies on a combination of ECG findings, clinical history, and genetic testing. Beta-blockers are the first-line therapy, and avoiding QT-prolonging medications is critical. In neonates, early recognition and treatment are vital to prevent arrhythmias. This case highlights the importance of early neonatal ECG screening in the setting of a family history of LQTS and emphasizes the need for multidisciplinary approach to optimize diagnosis, treatment, and counseling.
Ventricular Arrhythmias Associated With Long QT Syndrome Type 2 and Anomalous Right Coronary Artery.
Patients with congenital long QT syndrome (LQTS) are at increased risk for sudden cardiac death. We present the case of a young woman with a history of syncopal episodes triggered by emotional stress and menstruation who experienced recurrent ventricular arrhythmias requiring implantable cardioverter-defibrillator shocks. She was diagnosed with LQTS type 2 and found to have an anomalous right coronary artery from the left coronary cusp with malignant features. This clinical case highlights the complex interplay between LQTS type 2, sex hormonal influences, and an anomalous right coronary artery in a young female patient with recurrent ventricular arrhythmias.
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Circulation journal : official journal of the Japanese Circulation SocietyIntegrative analysis of KCNQ1 variants reveals molecular mechanisms of type 1 long QT syndrome pathogenesis.
Proceedings of the National Academy of Sciences of the United States of America"Better Late Than Never"-Late-Onset Genotype-Negative Congenital Long QT Syndrome: Case Report and Review.
Clinical case reportsCongenital Long QT Syndrome Type 7: Diagnostic Challenge Bridged by Genetic Testing.
Journal of cardiothoracic and vascular anesthesiaDeep Neural Network Analysis of the 12-Lead Electrocardiogram Distinguishes Patients With Congenital Long QT Syndrome From Patients With Acquired QT Prolongation.
Mayo Clinic proceedingsContribution of continuous intravenous lidocaine in managing congenital long QT syndrome with 2:1 atrioventricular block.
Indian pacing and electrophysiology journalManagement of patient with acute lymphocytic myocarditis and congenital long QT syndrome presenting with electrical storm and incessant Torsade de Pointes: a case report.
Journal of medical case reportsCongenital Long QT Syndrome Masquerading as Epilepsy: A Case Report.
CureusNovel risk predictor of arrhythmias for patients with potassium channel-related congenital long QT syndrome.
Heart rhythmDofetilide unmasks long QT in a patient presenting with atrial fibrillation-induced cardiomyopathy.
HeartRhythm case reportsCan wearables outscore general practitioners? Congenital long QT syndrome diagnosis initiated by a smartwatch.
HeartRhythm case reportsExploring Cardiac Sympathetic Denervation as a Treatment Approach for Recurrent Ventricular Arrhythmias: A Concise Review.
Journal of clinical & experimental cardiologyThe sodium/glucose cotransporter 2 inhibitor Empagliflozin inhibits long QT 3 late sodium currents in a mutation specific manner.
Journal of molecular and cellular cardiologyThe fully activated open state of KCNQ1 controls the cardiac "fight-or-flight" response.
PNAS nexusFrequency and Genotype-Dependence of intrinsic chronotropic insufficiency among patients with congenital long QT syndrome.
Journal of cardiovascular electrophysiologyCompound mutations in a patient with congenital long QT syndrome: Clinical challenges and genetic interpretation.
Pediatrics international : official journal of the Japan Pediatric SocietyTorsades de Pointes electrical storm in children with KCNH2 mutations.
BMC medical genomicsThe Perfect Storm: Abnormal Baseline QT With Chronic Methadone Use and Serious Hypokalemia.
Journal of investigative medicine high impact case reportsFrequency of and outcomes associated with nonadherence to guideline-based recommendations for an implantable cardioverter-defibrillator in patients with congenital long QT syndrome.
Heart rhythmPeripartum management of cardiac arrhythmias: a narrative review.
International journal of obstetric anesthesiaCongenital Long QT Syndrome Unmasked by Albuterol in an Adolescent with Asthma.
The Journal of emergency medicineLow foetal heart rate, a potentially ominous finding: case report.
European heart journal. Case reportsMultimodal fusion learning for long QT syndrome pathogenic genotypes in a racially diverse population.
NPJ digital medicineAntisense Oligonucleotide Therapy for Calmodulinopathy.
CirculationWhat an anesthesiologist should know about pediatric arrhythmias.
Paediatric anaesthesiaVigorous Exercise in Patients With Congenital Long QT Syndrome: Results of the Prospective, Observational, Multinational LIVE-LQTS Study.
CirculationResults of comprehensive genetic testing in patients presenting to a multidisciplinary inherited heart disease clinic in India.
Indian heart journalAtrial Arrhythmia and Bradycardia as a Presentation of Congenital Long QT Syndrome.
Pediatric cardiologyVentricular Fibrillation Arrest Triggered by Antiemetics Revealing an Underlying Long QT Syndrome in a Young Woman.
CureusRisk scores in congenital long QT syndrome: friend or foe?
European heart journalRescue of expression and function of long QT syndrome-causing mutant hERG channels by enhancing channel stability in the plasma membrane.
The Journal of biological chemistryIdentifying genomic variant associated with long QT syndrome type 2 in an ecuadorian mestizo individual: a case report.
Frontiers in geneticsA mild phenotype associated with KCNQ1 p.V205M mediated long QT syndrome in First Nations children of Northern British Columbia: effect of additional variants and considerations for management.
Frontiers in pediatricsCongenital Long QT Syndrome in Children and Adolescents: A General Overview.
Children (Basel, Switzerland)Wearable electrocardiogram devices in patients with congenital long QT syndrome: The SMART-QT study.
Archives of cardiovascular diseasesCatheter Ablation for Channelopathies: When Is Less More?
Journal of clinical medicineCase report: A 56-year-old woman presenting with torsades de pointes and cardiac arrest associated with levosimendan administration and underlying congenital long QT syndrome type 1.
HeliyonPrioritize Variant Reclassification in Pediatric Long QT Syndrome-Time to Revisit.
Pediatric cardiologyDeep Learning-Augmented ECG Analysis for Screening and Genotype Prediction of Congenital Long QT Syndrome.
JAMA cardiologyThe electrophysiologic effects of KCNQ1 extend beyond expression of IKs: evidence from genetic and pharmacologic block.
Cardiovascular researchFetal Arrhythmia Leading to a Diagnosis of Congenital Long QT Syndrome Type II.
JACC. Case reportsLow Baseline Fetal Heart Rate Leads to Diagnosis of Long QT Syndrome Type 1.
JACC. Case reportsRelevance of mexiletine in the era of evolving antiarrhythmic therapy of ventricular arrhythmias.
Clinical research in cardiology : official journal of the German Cardiac SocietyCongenital Long QT Syndrome (LQTS) in Infancy: A Challenging Case.
CureusTop stories on congenital long QT syndrome.
Heart rhythmRepotrectinib in a Patient With NTRK Fusion-Positive Pancreatic Carcinoma and Congenital Long QT Syndrome.
JCO precision oncologyRisk Prediction in Male Adolescents With Congenital Long QT Syndrome: Implications for Sex-Specific Risk Stratification in Potassium Channel-Mediated Long QT Syndrome.
Journal of the American Heart AssociationA case of short QT-interval postventricular arrhythmia arrest from Torsade De Pointes, a new phenotype, or the result of tachycardia-mediated imbalance.
Journal of cardiovascular electrophysiologyCongenital Long QT Syndrome, Coinciding With Cavitary Mycobacterium avium Lung Infection, Led to Cardiac Arrest.
JACC. Case reportsUnlocking the Potential of Left Cardiac Sympathetic Denervation: A Scoping Review of a Promising Approach for Long QT Syndrome.
CureusThe 2023 Canadian Cardiovascular Society Clinical Practice Update on Management of the Patient With a Prolonged QT Interval.
The Canadian journal of cardiologyLong QT Syndrome: A Preventable Cause of Exercise-Induced Sudden Cardiac Death.
JACC. Case reportsCongenital Long QT Syndrome and Cardiac Arrest in a Military Tactical Athlete.
JACC. Case reportsKCNH2 mutation c.3099_3112del causes congenital long QT syndrome type 2 with gender differences.
Clinics (Sao Paulo, Brazil)Spatiotemporal repolarization dispersion before and after exercise in patients with long QT syndrome type 1 versus controls: probing into the arrhythmia substrate.
American journal of physiology. Heart and circulatory physiologyTotal Intravenous Anaesthesia for Laparoscopic Cholecystectomy in a Patient With Congenital Long QT Syndrome: A Case Report.
CureusUsing Ribonucleoprotein-based CRISPR/Cas9 to Edit Single Nucleotide on Human Induced Pluripotent Stem Cells to Model Type 3 Long QT Syndrome (SCN5A±).
Stem cell reviews and reportsGenetic variant annotation scores in congenital long QT syndrome.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, IncSecular trends of health care resource utilization and costs between Brugada syndrome and congenital long QT syndrome: A territory-wide study.
Clinical cardiologyProvocation testing in congenital long QT syndrome: A practical guide.
Heart rhythmAssociation Between Syncope Trigger Type and Risk of Subsequent Life-Threatening Events in Patients With Long QT Syndrome.
JAMA cardiologyDiagnostic Accuracy of the Standing Test in Adults Suspected for Congenital Long-QT Syndrome.
Journal of the American Heart AssociationCurrent gaps in knowledge in inherited arrhythmia syndromes.
Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart FoundationA method for successfully implanting an implantable cardioverter-defibrillator wrapped with an expanded polytetrafluoroethylene sheet in a patient with metal allergy.
Journal of cardiology casesThe diagnostic value of electrocardiogram-based machine learning in long QT syndrome: a systematic review and meta-analysis.
Frontiers in cardiovascular medicineDetection of QT interval prolongation using Apple Watch electrocardiogram in children and adolescents with congenital long QT syndrome.
International journal of cardiology. Heart & vasculatureA novel HECW2 variant in an infant with congenital long QT syndrome.
Human genome variationSame Gene, Different Story (a Case Report of Congenital Long QT Syndrome Subtype 8 With a Novel Mutation).
The American journal of cardiologyPrediction of Kv11.1 potassium channel PAS-domain variants trafficking via machine learning.
Journal of molecular and cellular cardiologySGK1 inhibition attenuated the action potential duration in patient- and genotype-specific re-engineered heart cells with congenital long QT syndrome.
Heart rhythm O2Anthracyclines for acute promyelocytic leukemia in a female with congenital long QT syndrome.
Pediatric blood & cancerWhole-exome sequencing and electrophysiological study reveal a novel loss-of-function mutation of KCNA10 in epinephrine provoked long QT syndrome with familial history of sudden cardiac death.
Legal medicine (Tokyo, Japan)Mechanical QT and JT intervals by M-mode echocardiography: An extrapolation from the concurrent electrocardiographic tracings.
Annals of pediatric cardiologyBilateral cardiac sympathetic denervation in patients with congenital long QT syndrome.
Heart rhythmCardiorespiratory fitness, muscle fitness, and physical activity in children with long QT syndrome: A prospective controlled study.
Frontiers in cardiovascular medicineRadiofrequency catheter ablation in congenital long QT syndrome: an anatomical approach to a supposedly primary electrical disease.
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 CardiologySGK1 inhibition attenuates the action potential duration in reengineered heart cell models of drug-induced QT prolongation.
Heart rhythmPrecision medicine for long QT syndrome: patient-specific iPSCs take the lead.
Expert reviews in molecular medicineCardiac Arrest Following Torsades de Pointes Caused by Hypokalemia and Catecholamines in a Patient with Congenital Long QT Syndrome Type 1 After Surgical Aortic Valve Replacement: A Case Report.
The American journal of case reportsPharmacological rescue of specific long QT variants of KCNQ1/KCNE1 channels.
Frontiers in physiologyContinuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies.
Genetics in medicine : official journal of the American College of Medical GeneticsBiological Life-Stage and the Burden of Cardiac Events in Women With Congenital Long QT Syndrome.
Circulation. Arrhythmia and electrophysiologyThe diagnostic role of T wave morphology biomarkers in congenital and acquired long QT syndrome: A systematic review.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, IncEvolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.
Frontiers in pharmacologyCongenital long QT syndrome: The masquerader.
Indian journal of anaesthesiaCase report of a patient with congenital long QT syndrome Type 2 presenting with electrical storm: do not judge a book by its cover!
European heart journal. Case reportsFunctional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies.
Circulation. Genomic and precision medicineCerebral Seizures in an Adolescent with Jervell and Lange-Nielsen Syndrome: It May Not Be Epilepsy.
Clinics and practiceSex Differences and Utility of Treadmill Testing in Long-QT Syndrome.
Journal of the American Heart AssociationIn Vitro Drug Screening Using iPSC-Derived Cardiomyocytes of a Long QT-Syndrome Patient Carrying KCNQ1 & TRPM4 Dual Mutation: An Experimental Personalized Treatment.
CellsExploring mutation specific beta blocker pharmacology of the pathogenic late sodium channel current from patient-specific pluripotent stem cell myocytes derived from long QT syndrome mutation carriers.
Channels (Austin, Tex.)Genotype-Specific ECG-Based Risk Stratification Approaches in Patients With Long-QT Syndrome.
Frontiers in cardiovascular medicineUtility of Provocative Testing in the Diagnosis and Genotyping of Congenital Long QT Syndrome: A Systematic Review and Meta-Analysis.
Journal of the American Heart AssociationCongenital long QT syndrome: A challenging diagnosis by fetal echocardiography.
Annals of pediatric cardiologyWorkforce attachment after a congenital long QT syndrome diagnosis: a Danish nationwide study.
Open heartPrecision therapy in congenital long QT syndrome.
Trends in cardiovascular medicineResuscitated Sudden Cardiac Arrest of a Neonate with Congenital LQT Syndrome-Associated Torsades de Pointes: A Case Report and Literature Review.
Journal of cardiovascular development and diseaseCONGENITAL LONG QT SYNDROME: A SYSTEMATIC REVIEW.
Acta clinica CroaticaDilated Cardiomyopathy Phenotype-Associated Left Ventricular Noncompaction and Congenital Long QT Syndrome Type-2 in Infants With KCNH2 Gene Mutation: Anesthetic Considerations.
Journal of cardiothoracic and vascular anesthesiaSpectrum and prevalence of side effects and complications with guideline-directed therapies for congenital long QT syndrome.
Heart rhythmPseudohypoparathyroidism: a diagnosis to consider once a PTH elevation is detected.
Acta bio-medica : Atenei ParmensisCongenital Long QT Syndrome.
JACC. Clinical electrophysiologyCongenital Long QT Syndrome: A Review of Genetic and Pathophysiologic Etiologies, Phenotypic Subtypes, and Clinical Management.
Cardiology in reviewSex hormones and repolarization dynamics during the menstrual cycle in women with congenital long QT syndrome.
Heart rhythmA deep learning approach identifies new ECG features in congenital long QT syndrome.
BMC medicineβ-blocker adherence among patients with congenital long QT syndrome: a nationwide study.
European heart journal. Quality of care & clinical outcomesTen-year-old boy with congenital long QT syndrome type 2 (LQTS2) and life-threatening electrical storm: a case report of successful treatment with mexiletine.
Cardiology in the youngExercise Test for Patients with Long QT Syndrome.
Acta Cardiologica SinicaCongenital long QT syndrome presenting as unexplained bradycardia.
BMJ case reportsDiagnostic accuracy of the 12-lead electrocardiogram in the first 48 hours of life for newborns of a parent with congenital long QT syndrome.
Heart rhythmCommon Ancestry-Specific Ion Channel Variants Predispose to Drug-Induced Arrhythmias.
CirculationSuccessful vaginal delivery in a parturient with long QT syndrome type 2 using double-catheter epidural analgesia: A CARE-compliant case report.
MedicineStructural Modelling of KCNQ1 and KCNH2 Double Mutant Proteins, Identified in Two Severe Long QT Syndrome Cases, Reveals New Insights into Cardiac Channelopathies.
International journal of molecular sciencesMutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1.
Journal of cardiovascular electrophysiologyTorsades de pointes in the PACU after outpatient endoscopy: a case report.
BMC anesthesiologyCalmodulinopathy in inherited arrhythmia syndromes.
Tzu chi medical journal[Cardiac arrest in a patient with long QT syndrome receiving androgen deprivation therapy].
Ugeskrift for laegerInduced Pluripotent Stem Cell-Derived Cardiomyocytes with SCN5A R1623Q Mutation Associated with Severe Long QT Syndrome in Fetuses and Neonates Recapitulates Pathophysiological Phenotypes.
BiologyAnesthesia for a Child with Congenital Long QT Syndrome, a Case Report and Literature Review.
Anesthesia, essays and researchesSeverity of congenital long QT syndrome disease manifestation and risk of depression, anxiety, and mortality: a nationwide study.
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 CardiologyPeculiar Aspects of Patients with Inherited Arrhythmias during the COVID-19 Pandemic.
Arquivos brasileiros de cardiologiaCongenital Long QT Syndrome Type 2 with Symptomatic 2:1 Atrioventricular Block and Ventricular Arrhythmia in a Preterm Baby Who Presented with Fetal Ventricular Tachycardia and Hydrops.
Korean circulation journalPublisher Correction: Analysis of the shape of the T-wave in congenital long-QT syndrome type 3 by geometric morphometrics.
Scientific reportsGeneration of three induced pluripotent stem cell lines (SCVIi014-A, SCVIi015-A, and SCVIi016-A) from patients with LQT1 caused by heterozygous mutations in the KCNQ1 gene.
Stem cell researchPueraria mirifica, an estrogenic tropical herb, unveiled the severity of Type 1 LQTS caused by KCNQ1-T587M.
Journal of arrhythmiaAborted Cardiac Arrest in LQT2 Related to Novel KCNH2 (hERG) Variant Identified in One Lithuanian Family.
Medicina (Kaunas, Lithuania)Use of oral contraceptives in women with congenital long QT syndrome.
Heart rhythmLong QT-Syndrome With Torsades de Pointes Managed Considering Financial Constraints Faced by the Patient.
CureusComparison of electrocardiograms (ECG) waveforms and centralized ECG measurements between a simple 6-lead mobile ECG device and a standard 12-lead ECG.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, IncDifferential diagnosis between LQT1 and LQT2 by QT/RR relationships using 24-hour Holter monitoring: A multicenter cross-sectional study.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, IncRisk Prediction in Women With Congenital Long QT Syndrome.
Journal of the American Heart AssociationManagement of Congenital Long-QT Syndrome: Commentary From the Experts.
Circulation. Arrhythmia and electrophysiologyA rare cause of platypnea-orthodeoxia syndrome in a young female due to persistent left superior vena cava.
Pacing and clinical electrophysiology : PACECongenital long QT syndrome: a clinician's guide.
Internal medicine journalFunctional evaluation of human ion channel variants using automated electrophysiology.
Methods in enzymologyAnalysis of the shape of the T-wave in congenital long-QT syndrome type 3 by geometric morphometrics.
Scientific reportsGeneration of three heterozygous KCNH2 mutation-carrying human induced pluripotent stem cell lines for modeling LQT2 syndrome.
Stem cell researchDiagnosis, management and therapeutic strategies for congenital long QT syndrome.
Heart (British Cardiac Society)Management of Long QT Syndrome in Women Before, During, and After Pregnancy.
US cardiologyDose response to nadolol in congenital long QT syndrome.
Heart rhythmNotice of Retraction. Shimizu et al. Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients. JAMA Cardiol. 2019;4(3):246-254.
JAMA cardiologyClinical and genetic characteristics and course of congenital long QT syndrome in children: A nine-year single-center experience.
Anatolian journal of cardiologyAssociações
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Síndrome QT longo familiar congênito e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
A síndrome é causada por mutações genéticas que afetam a função de canais elétricos do coração, com destaque para genes como KCNH2, SCN5A e CALM1. Ela é uma doença genética hereditária transmitida com padrão autossômico dominante ou recessivo.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
9 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (s.d.). Síndrome QT longo familiar congênito. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/sindrome-qt-longo-familiar-congenito
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Síndrome QT longo familiar congênito
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Moléculas estudadas na doença
- fonte: OpenTargets
- Ensaios clínicos
- fonte: ClinicalTrials.gov
