Doença cardíaca hereditária caracterizada por prolongamento do intervalo QT no ECG basal e por alto risco de arritmias potencialmente fatais.
Introdução
O que você precisa saber de cara
A síndrome de Romano-Ward é uma condição que causa uma interrupção do ritmo normal do coração (arritmia). Esse distúrbio é uma forma de síndrome do QT longo, que é uma condição cardíaca que faz com que o músculo do coração (cardíaco) demore mais que o usual para recarregar entre os batimentos. O termo “QT longo” refere‑se a um padrão específico de atividade cardíaca que é detectado com um eletrocardiograma (ECG ou EKG), que é um teste usado para medir a atividade elétrica do coração. Em pessoas com a síndrome do QT longo, a parte do batimento cardíaco conhecida como intervalo QT é anormalmente longa. Anormalidades no tempo que o coração leva para recarregar levam a ritmos cardíacos anormais.
A arritmia associada à síndrome de Romano-Ward pode levar a desmaios (síncope) ou parada cardíaca e morte súbita. No entanto, algumas pessoas com a síndrome de Romano-Ward nunca apresentam problemas de saúde associados à condição.
Quinze tipos de síndrome do QT longo foram definidos com base em sua causa genética. Alguns tipos de síndrome do QT longo envolvem outras anormalidades cardíacas ou problemas em sistemas corporais adicionais. A síndrome de Romano-Ward engloba aqueles tipos que envolvem apenas um intervalo QT longo sem outras anormalidades.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoDoença cardíaca hereditária caracterizada por prolongamento do intervalo QT no ECG basal e por alto risco de arritmias potencialmente fatais.
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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 oficiaisLong 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.
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.
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.
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 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 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 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.
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.
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.
Holt-Oram syndrome
Developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects.
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.
HyperCKmia
Characterized by persistent elevated levels of serum creatine kinase without muscle weakness.
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.
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.
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.
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.
Ventricular 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.
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.
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)
338 variantes patogênicas registradas no 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 do QT longo de Romano-Ward
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Pesquisa e ensaios clínicos
2 ensaios clínicos encontrados.
Publicações mais relevantes
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.
Mechano-electrical feedback in transgenic rabbit models of long QT syndrome Type 2 and short QT syndrome Type 1.
Electromechanical coupling and mechano-electrical feedback (MEF) are crucial for cardiac function, but their pro-arrhythmic roles in short and long QT syndromes (SQT1 and LQT2) are not fully understood. We aimed to evaluate MEF-induced electrical changes, their arrhythmic impact, and the involvement of stretch-activated channels (SACs) in transgenic rabbit models of SQT1 and LQT2. Patch-clamp and fluorescence imaging were used to analyse action potential duration (APD), Ca²⁺ transients, and contractility in ventricular cardiomyocytes (VCMs) from LQT2, SQT1 and wild-type (WT) rabbits. LQT2 cells showed prolonged APD and Ca²⁺ transients, increased early afterdepolarizations, Ca²⁺ oscillations, and impaired mechanics compared to WT and SQT1. The cellular electromechanical window (Ca²⁺-transient duration minus APD) was more negative in LQT2 and more positive in SQT1 than in WT. QTc prolonged with preload/afterload increase and decreased with preload reduction across all genotypes, but MEF-induced QTc changes and dispersion were most pronounced in LQT2. Ex vivo Langendorff experiments showed that increased right ventricular (RV) pressure prolonged APD and QTc in WT hearts. This was attenuated by the SAC blocker GSMTx4, suggesting a role for SACs in MEF. In silico models of human VCMs including SACs confirmed higher vulnerability to stretch/MEF-induced arrhythmias, including re-entry, in SQT1 and LQT2. Mechano-electrical feedback-induced electrical changes, partly mediated by SACs, occur in WT, SQT1, and LQT2, but MEF effects are strongest in LQT2. Mechano-electrical feedback induces pro-arrhythmic effects in silico more prominently in LQT2 and SQT1 than in WT, highlighting the potential pro-arrhythmic role of MEF in a vulnerable electrophysiological substrate.
AAV9-mediated KCNH2 suppression-replacement gene therapy in a transgenic rabbit model of type 1 short QT syndrome.
Type 1 short QT syndrome (SQT1) is a genetic channelopathy caused by gain-of-function variants in KCNH2, resulting in shortened cardiac repolarization and QT intervals, which predispose patients to ventricular arrhythmias and sudden cardiac death. This study aimed to investigate the therapeutic efficacy of KCNH2-specific suppression-and-replacement (KCNH2-SupRep) gene therapy in a transgenic rabbit model of SQT1. KCNH2-SupRep was developed by combining a KCNH2-shRNA with its corresponding shRNA-immune KCNH2-cDNA into an AAV9 vector, delivered directly into the aortic root (1 × 1010 vg/kg). Therapeutic efficacy was evaluated in vivo by electrocardiogram, ex vivo by optical mapping, and at cellular levels by patch-clamp, calcium imaging, and qPCR in ventricular cardiomyocytes (VCMs). In vivo, KCNH2-SupRep normalized the heart rate-corrected QT interval (QTc) in SQT1 rabbits, without affecting repolarization heterogeneity. Ex vivo, KCNH2-SupRep corrected the action potential duration (APD90) and resolved the increased apicobasal APD90 heterogeneity observed in untreated (UT)-SQT1 hearts, supporting an antiarrhythmic effect, which was further validated by reduced re-entry formation in silico. At cellular levels, KCNH2-SupRep prolonged APD90 in VCMs from SupRep-SQT1 rabbits closer to wildtype levels compared with UT- and sham-SQT1. Additionally, KCNH2-SupRep restored the cellular surrogate of the electro-mechanical window and normalized IKr in nearly 50% of VCMs, in line with a 50%-60% suppression of the mutant KCNH2 transcript. This proof-of-concept study is the first to demonstrate the efficacy of gene therapy for SQT1 in a medium-sized animal model. KCNH2-SupRep gene therapy successfully corrected the pathologic phenotype in vivo, ex vivo, and at cellular levels in transgenic SQT1 rabbits.
[Exertional syncope: A diagnosis of long QT syndrome. A practice-oriented case report on risk stratification and management].
We present the case of a 22-year-old medical student who experienced repeated episodes of syncope during physical exertion. Ini-tial investigations, including a neurological assessment and cardiac examinations involving electrocardiograms (ECGs) and Holter monitoring, were normal. During a subsequent volleyball match, however, she suffered cardiac arrest and required resuscitation and defibrillation with an automated external defibrillator (AED). Analysis of the AED recording revealed ventricular fibrillation (VF) and prompted further diagnostic testing. Long QT syndrome (LQTS) was diagnosed based on the clinical presentation, a prolonged QTc interval on the ECG and documented cardiac arrest with VF. Subsequent genetic testing identified a pathogenic variant in the KCNQ1 gene, confirming the diagnosis of type 1 LQTS. The patient was treated with beta blockers, and an implantable cardioverter-defibrillator (ICD) was implanted. This case highlights the diagnostic and prognostic significance of exercise-induced syncope as a high-risk symptom requiring careful cardiological evaluation, even when initial investigations are unremarkable. It emphasises the high didactic value of AED data analysis and illustrates the application of current guidelines in the management of cardiac channelopathies. Belastungssynkope: Diagnose Long-QT-Syndrom. Wir präsentieren den Fall einer 22-jährigen Medizinstudentin, die während körperlicher Anstrengung eine rezidivierende Synkope erlitt. Initiale Abklärungen, einschliesslich neurologischer Beurteilung und kardialer Untersuchungen mit Elektrokardiogramm (EKG) und Holter-Monitoring, wurden als unauffällig beurteilt. Während eines nachfolgenden Volleyballmatches erlitt sie einen Herzstillstand, der eine Reanimation und Defibrillation mit einem automatisierten externen Defibrillator (AED) erforderte. Die Analyse der AED-Aufzeichnung dokumentierte ein Kammerflimmern (VF) und führte zur weiteren Diagnostik. Die Diagnose eines Long-QT-Syndroms (LQTS) wurde aufgrund der klinischen Präsentation, eines verlängerten QTc-Intervalls im EKG und des dokumentierten Herzstillstands mit VF gestellt. Eine nachfolgende genetische Untersuchung identifizierte eine pathogene Variante im KCNQ1-Gen, was die Diagnose eines LQTS Typ 1 bestätigte. Die Patientin wurde mit Betablockern behandelt, und es wurde ihr ein implantierbarer Kardioverter-Defibrillator (ICD) implantiert. Dieser Fall unterstreicht die diagnostische und prognostische Bedeutung der Belastungssynkope als Hochrisikosymptom, das eine sorgfältige kardiologische Abklärung erfordert, selbst wenn erste Untersuchungen unauffällig sind. Er betont den hohen didaktischen Wert der AED-Datenanalyse und illustriert die Anwendung aktueller Leitlinien im Management von kardialen Kanalopathien. Schlüsselwörter: Belastungssynkope, Long-QT-Syndrom, Kammerflimmern, kardiogenetische Kanalopathie, implantierbarer Kardioverter-Defibrillator.
Mapping cardiac innervation in the long QT syndrome type 1 transgenic mouse model using whole heart imaging.
Cardiac innervation plays a crucial role in maintaining heart function. Abnormalities in cardiac innervation can be associated with arrhythmia, ischemic injury, and dysfunction, as documented in heart transplantation reports. There has been a lack of research on heart innervation patterns in congenital hereditary heart disease, including Long QT Syndrome (LQTS), which is a prevalent form of arrhythmia. By considering this gap, we comparatively analyzed global heart innervation patterns and axon fiber prevalence between wild-type (WT) and the Kcnq1A340E/A340E mutation-bearing LQTS Type 1 transgenic mouse models. Hearts from WT and Kcnq1A340E/A340E mice were immunostained with a pan-neuronal marker TUJ1 and imaged using the Lightsheet microscopy. The whole-heart images were processed and binarized to evaluate nerve fiber density, axon fiber diameter, focusing on fibers < 2.5 μm and > 2.5 μm on the dorsal and ventral sides of the heart, as well as branch number, length, and junction numbers. The comparative global innervation analysis of WT and Kcnq1A340E/A340E transgenic mice hearts did not display a statistically significant difference in the TUJ1 immunoreactive nerve fiber density, analyzed by fluorescence intensity prevalence. Interestingly, the nerve fibers < 2.5 μm were detected to have a lower prevalence in Kcnq1A340E/A340E mice compared to WT mice on both dorsal and ventral sides. Furthermore, the branch number, branch length, or junction number of global heart innervation between the experimental groups showed similar quantitative values. Notably, the overlay of innervation patterns within and between WT and Kcnq1A340E/A340E mice hearts revealed a distinct fiber distribution pattern. These findings indicated a unique, fingerprint-like innervation pattern in each heart, independent of the Kcnq1 mutation. Collectively, our data indicated that the nerve fiber diameter distribution in the hearts of Kcnq1A340E/A340E mice is slightly different from that of WT mice, and that there is a unique innervation pattern in each heart, similar to a heartprint, regardless of the mutation. Deciphering the underlying mechanisms behind ion channel mutations and cardiac innervation patterns by analyzing distinct congenital cardiac diseases awaits future investigation.
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Computational Study on Effect of KCNQ1 P535T Mutation in a Cardiac Ventricular Tissue.
Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants.
The Pathological Mechanisms of Hearing Loss Caused by KCNQ1 and KCNQ4 Variants.
📚 EuropePMC96 artigos no totalmostrando 106
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.
Stem cell research[Exertional syncope: A diagnosis of long QT syndrome. A practice-oriented case report on risk stratification and management].
PraxisMechano-electrical feedback in transgenic rabbit models of long QT syndrome Type 2 and short QT syndrome Type 1.
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Cardiovascular pathology : the official journal of the Society for Cardiovascular PathologyAAV9-mediated KCNH2 suppression-replacement gene therapy in a transgenic rabbit model of type 1 short QT syndrome.
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Diagnostics (Basel, Switzerland)Postpartum QT Prolongation in a Long QT Syndrome Type 1 Patient.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, IncIntegrative 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 AmericaEstablishment of two human induced pluripotent stem cell lines from familial long QT syndrome type 1 patients carrying KCNQ1 mutation.
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Circulation researchKCNQ1 suppression-replacement gene therapy in transgenic rabbits with type 1 long QT syndrome.
European heart journalGenetic characterization of KCNQ1 variants improves risk stratification in type 1 long QT syndrome patients.
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American journal of physiology. Heart and circulatory physiologyEstimating the probability of early afterdepolarizations and predicting arrhythmic risk associated with long QT syndrome type 1 mutations.
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International journal of molecular sciencesA novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1.
European journal of medical researchCardiac 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.
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European heart journalGeneration 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.
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International journal of cardiologyIdentification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature among Iranian Long QT Families.
Iranian biomedical journalProarrhythmic proclivity of left-stellate ganglion stimulation in a canine model of drug-induced long-QT syndrome type 1.
International journal of cardiologyRecurrent Torsades with Refractory QT Prolongation in a 54-Year-Old Man.
The American journal of case reports[Analysis of the KCNQ1 gene mutation in 2 families with congenital long QT syndrome type 1 in Xinjiang Uygur Autonomous Region].
Zhonghua xin xue guan bing za zhiMutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.
Human mutationEpilepsy in patients with long QT syndrome type 1: A Norwegian family.
Epilepsy & behavior case reportsCardiac electrical and mechanical alterations - united in the long QT syndrome.
International journal of cardiologyA pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel.
Heart rhythmFunctionally Aberrant Mutant KCNQ1 With Intermediate Heterozygous and Homozygous Phenotypes.
The Canadian journal of cardiologyExtensive Diversity of Molecular Mechanisms Underlying the Congenital Long QT Syndrome Type 1.
The Canadian journal of cardiologyThey Are Not Monozygotic Twins - Long QT Syndrome Type 1 (LQT1) and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT).
Circulation journal : official journal of the Japanese Circulation SocietyElectro-mechanical (dys-)function in long QT syndrome type 1.
International journal of cardiologyA novel mutation KCNQ1p.Thr312del is responsible for long QT syndrome type 1.
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Circulation journal : official journal of the Japanese Circulation SocietyHuman Induced Pluripotent Stem Cell-Derived Engineered Heart Tissue as a Sensitive Test System for QT Prolongation and Arrhythmic Triggers.
Circulation. Arrhythmia and electrophysiologyComparison of automated interval measurements by widely used algorithms in digital electrocardiographs.
American heart journalComplex aberrant splicing in the induced pluripotent stem cell-derived cardiomyocytes from a patient with long QT syndrome carrying KCNQ1-A344Aspl mutation.
Heart rhythmTransient Outward K+ Current (Ito) Underlies the Right Ventricular Initiation of Polymorphic Ventricular Tachycardia in a Transgenic Rabbit Model of Long-QT Syndrome Type 1.
Circulation. Arrhythmia and electrophysiologyT-Wave Morphology Analysis in Congenital Long QT Syndrome Discriminates Patients From Healthy Individuals.
JACC. Clinical electrophysiologyGeneration of the human induced pluripotent stem cell (hiPSC) line PSMi003-A from a patient affected by an autosomal recessive form of Long QT Syndrome type 1.
Stem cell researchClinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients.
BMC medical geneticsNovel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome.
Iranian journal of basic medical sciencesUsing the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.
Heart rhythmArchitectural T-Wave Analysis and Identification of On-Therapy Breakthrough Arrhythmic Risk in Type 1 and Type 2 Long-QT Syndrome.
Circulation. Arrhythmia and electrophysiologyStudying KCNQ1 Mutation and Drug Response in Type 1 Long QT Syndrome Using Patient-Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Methods in molecular biology (Clifton, N.J.)Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.
Journal of electrocardiologyCompound heterozygous KCNQ1 mutations (A300T/P535T) in a child with sudden unexplained death: Insights into possible molecular mechanisms based on protein modeling.
GeneA novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.
BMC medical geneticsClinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity.
Heart rhythmGlucose ingestion causes cardiac repolarization disturbances in type 1 long QT syndrome patients and healthy subjects.
Heart rhythmKCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.
Journal of medical geneticsConsiderations when using next-generation sequencing for genetic diagnosis of long-QT syndrome in the clinical testing laboratory.
Clinica chimica acta; international journal of clinical chemistryContribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote.
Journal of cardiologyExperience with bisoprolol in long-QT1 and long-QT2 syndrome.
Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacingGenetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?
Circulation. Cardiovascular geneticsRefractory torsade de pointes induced by terlipressin (Glypressin).
International journal of cardiologyKCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
American journal of medical genetics. Part AEffect of Left Cardiac Sympathetic Denervation on the Electromechanical Window in Patients with either Type 1 or Type 2 Long QT Syndrome: A Pilot Study.
Congenital heart disease"QT clock" to improve detection of QT prolongation in long QT syndrome patients.
Heart rhythmStop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.
Heart rhythmWe only find what we look for: fetal heart rate and the diagnosis of long-QT syndrome.
Circulation. Arrhythmia and electrophysiologyA Common Mutation of Long QT Syndrome Type 1 in Japan.
Circulation journal : official journal of the Japanese Circulation SocietyFollow-up of 316 molecularly defined pediatric long-QT syndrome patients: clinical course, treatments, and side effects.
Circulation. Arrhythmia and electrophysiologyReassuring News for Genetically Tested, Appropriately Treated, Low-Risk LQTS Patients.
Journal of cardiovascular electrophysiologyThird trimester fetal heart rate predicts phenotype and mutation burden in the type 1 long QT syndrome.
Circulation. Arrhythmia and electrophysiologySpatially Discordant Alternans and Arrhythmias in Tachypacing-Induced Cardiac Myopathy in Transgenic LQT1 Rabbits: The Importance of IKs and Ca2+ Cycling.
PloS oneStrain Echocardiography and LQTS Subtypes: Mechanical Alterations in an Electrical Disorder.
JACC. Cardiovascular imagingCardiac Mechanical Alterations and Genotype Specific Differences in Subjects With Long QT Syndrome.
JACC. Cardiovascular imagingCharacterization of a novel KCNQ1 mutation for type 1 long QT syndrome and assessment of the therapeutic potential of a novel IKs activator using patient-specific induced pluripotent stem cell-derived cardiomyocytes.
Stem cell research & therapyIdentification of Low-Risk Adult Congenital LQTS Patients.
Journal of cardiovascular electrophysiologyEnhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel.
Journal of cardiovascular translational researchAsymptomatic 43-year-old man with family history of sudden death.
Heart (British Cardiac Society)Dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 genes in a three-generation Chinese family.
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 CardiologyCellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.
Frontiers in cellular neurosciencePhysiological variations, environmental factors, and genetic modifications in inherited LQT syndromes.
Journal of the American College of CardiologyAutonomic control of heart rate and QT interval variability influences arrhythmic risk in long QT syndrome type 1.
Journal of the American College of CardiologyFiltering approach based on empirical mode decomposition improves the assessment of short scale complexity in long QT syndrome type 1 population.
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International ConferenceThe Long QT Syndrome: A Review and Mortality Analysis.
Journal of insurance medicine (New York, N.Y.)Associações
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Síndrome do QT longo de Romano-Ward 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
Sim, a Síndrome do QT longo de Romano-Ward é uma doença hereditária. Ela apresenta padrões de transmissão genética autossômica dominante ou autossômica recessiva.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 6 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 do QT longo de Romano-Ward. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/sindrome-do-qt-longo-de-romano-ward
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Síndrome do QT longo de Romano-Ward
📋 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
