A Taquicardia Ventricular Polimórfica Catecolaminérgica (CPVT) é um distúrbio cardíaco genético grave que causa arritmias, ou seja, alterações no ritmo do coração. Ela é caracterizada por episódios de taquicardia ventricular (TV), que são batimentos cardíacos muito rápidos e desorganizados vindos dos ventrículos do coração. Esses episódios são geralmente desencadeados por situações de estresse, exercício físico ou fortes emoções, que aumentam a adrenalina. A CPVT pode se manifestar como desmaios e, em casos mais sérios, pode levar à morte súbita.
Introdução
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A Taquicardia Ventricular Polimórfica Catecolaminérgica (CPVT) é um distúrbio cardíaco genético grave que causa arritmias, ou seja, alterações no ritmo do coração. Ela é caracterizada por episódios de taquicardia ventricular (TV), que são batimentos cardíacos muito rápidos e desorganizados vindos dos ventrículos do coração. Esses episódios são geralmente desencadeados por situações de estresse, exercício físico ou fortes emoções, que aumentam a adrenalina. A CPVT pode se manifestar como desmaios e, em casos mais sérios, pode levar à morte súbita.
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
+ 11 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 32 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
7 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Cytosolic calcium-activated calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytosol and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardiac arrhythmia. In cardiac myocytes, calcium release is triggered by increased Ca(2+) cytosolic levels due to activation of the L-type calcium channel CACNA1C. The calcium channel activity is modulated by formation of heterotetramers with RYR3. Required fo
Sarcoplasmic reticulum membrane
Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy
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. CPVT1 inheritance is autosomal dominant.
Calmodulin acts as part of a calcium signal transduction pathway by mediating the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding (PubMed:16760425, PubMed:31454269). Calcium-binding is required for the activation of calmodulin (PubMed:16760425, PubMed:31454269, PubMed:35568036). Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases, such as myosin light-chain kinases and calmodulin-dependent
Cytoplasm, cytoskeleton, spindleCytoplasm, cytoskeleton, spindle poleCytoplasm, cytoskeleton, microtubule organizing center, centrosome
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.
MembraneEndoplasmic reticulum
Ventricular tachycardia, catecholaminergic polymorphic, 3
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, or sudden death after physical activity or emotional stress. CPVT3 is an autosomal recessive disorder with onset at early age and associated with sudden death in childhood. Patients manifest QT prolongation on adrenergic stimulation.
Calmodulin acts as part of a calcium signal transduction pathway by mediating the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding (PubMed:16760425, PubMed:26969752, PubMed:27165696). Calcium-binding is required for the activation of calmodulin (PubMed:16760425, PubMed:26969752, PubMed:27165696, PubMed:35568036). Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases, such as myosin light-chain
Cytoplasm, cytoskeleton, spindleCytoplasm, cytoskeleton, spindle poleCytoplasm, cytoskeleton, microtubule organizing center, centrosome
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.
Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein surface, especially at the interface between subunits. Can bind around 60 Ca(2+) ions. Regulates the release of lumenal Ca(2+) via the calcium release channel RYR2; this plays an important role in triggering muscle contraction. Plays a role in excitation-contraction coupling in the heart and in regu
Sarcoplasmic reticulum lumen
Ventricular tachycardia, catecholaminergic polymorphic, 2
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. CPVT2 inheritance is autosomal recessive.
Calmodulin acts as part of a calcium signal transduction pathway by mediating the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding (PubMed:16760425, PubMed:23893133, PubMed:26969752, PubMed:27165696, PubMed:28890335, PubMed:31454269, PubMed:35568036). Calcium-binding is required for the activation of calmodulin (PubMed:16760425, PubMed:23893133, PubMed:26969752, PubMed:27165696, PubMed:28890335, PubMed:31454269, PubMed:35568036). Among the
Cytoplasm, cytoskeleton, spindleCytoplasm, cytoskeleton, spindle poleCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCell projection, cilium, flagellum
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.
Contributes to the regulation of lumenal Ca2+ release via the sarcoplasmic reticulum calcium release channels RYR1 and RYR2, a key step in triggering skeletal and heart muscle contraction. Required for normal organization of the triad junction, where T-tubules and the sarcoplasmic reticulum terminal cisternae are in close contact (By similarity). Required for normal skeletal muscle strength. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats
Cell membraneSarcoplasmic reticulum membrane
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.
Variantes genéticas (ClinVar)
405 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 9,350 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
33 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)
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18 ensaios clínicos encontrados, 8 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 824
Ca2+ signalling in cardiac muscle: the importance of balances.
In this narrative review, an example of a cardiac arrhythmia with a mechanistically appealing molecular pathomechanism is highlighted. This example will be used to delineate how recent basic science findings, which are summarized, can be used to obtain a deeper understanding of pathological behaviour from the molecular to the cellular level. The condition in question is the highly lethal catecholaminergic polymorphic ventricular tachycardia resulting from a point mutation of the cardiac ryanodine receptor. For this deep dive, the RyR2R420Q phenotype will be discussed in detail. Interestingly, these findings and the conclusions which could be drawn from them were very much unexpected but could be relevant for pharmacological treatments. To make the transition from the molecular and cellular findings to the patient will require the translation across several layers of complexity. Ultimately, such detailed understanding will lead to improved therapies tailored to each individual case and the specific RyR2 mutation carried by a particular family, in the framework of precision medicine.
Generation of three heterozygous and two homozygous hiPSC lines from a CPVT associated mutation RYR2_p.G357S from a large family of the Canary Islands.
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic disease characterized by adrenergically induced ventricular arrhythmias that cause sudden cardiac death. Using non-integrative episomal plasmids we reprogrammed skin fibroblasts of three heterozygous and two homozygous carriers of a mutation in the gene that encodes the ryanodine receptor type 2 (RYR2), RYR2_c.G1069A/p.G357S, previously associated to CPVT in a large family of the Gran Canaria Island. The resulting hiPSC cell lines have normal karyotype, differentiate into cells of the 3 germ layers, and express pluripotency markers and genes.
Paediatric inherited arrhythmia clinic: developing a new model of care.
To describe the development and utilisation of a paediatric inherited arrhythmia clinic (IAC) from 2014 to 2024, including service developments following the introduction of cardiac genetic coordinators (CGC). Retrospective cohort study. The IAC at Children's Hospital Westmead, New South Wales, Australia (approximately 8 million people). Children (aged 0-18 years) referred to the IAC. Clinical and genetic data were extracted and analysed. Description of the development and cohort of the clinic. A monthly clinic preceded by a team meeting (multidisciplinary team) led by a paediatric cardiologist and clinical geneticist was established. Attendees included a genetic counsellor, senior arrhythmia nurse and clinical psychologist.A total of 301 individuals aged 0-18 years were seen over 11 years: 32 in 2014 and 128 in 2024. 85 probands presented with cardiac arrest (37; 44%), syncope (23; 27%) and others (25; 29%). The most common diagnoses were Long QT syndrome 33 (38%), catecholaminergic polymorphic ventricular tachycardia 24 (28%) and Brugada syndrome 6 (7%). 226/301 children had genetic testing; pathogenic/likely pathogenic variants were found in 173/226 (77%), including 121 family members. The most common genes implicated were KCNQ1 (67), KCNH2 (39), SCN5A (28) and RyR2 (15).Dedicated allied health/nursing CGCs appointed in 2023 improved the collation of clinical/family data (particularly new referrals), links to adult cardiology, forensic and regional genetic and paediatric services. The multidisciplinary IAC achieves the phenotyping, genotyping and holistic care of large numbers of children, mostly with cardiac ion channelopathies. Dedicated coordinators provided an incremental improvement to the service.
Bidirectional ventricular tachycardia caused by occlusion myocardial infarction-a case report.
Bidirectional ventricular tachycardia (BdVT) is an uncommon form of ventricular arrhythmia typically associated with digoxin toxicity or catecholaminergic polymorphic ventricular tachycardia. BdVT in the setting of acute myocardial ischaemia is limited to case reports. We present an example of BdVT caused by occlusion myocardial infarction with original and modified Sgarbossa criteria being positive. An elderly male with known coronary artery disease presented with chest pain. The initial ECG demonstrated a regular wide QRS complex tachycardia with alternating frontal plane axis, consistent with BdVT. No apparent cause of the arrhythmia was identified from the patient's medication history or family history. Detailed ECG analysis revealed that during tachycardia, the QRS complexes exhibited excessively discordant ST segment elevation and depression. ST segment concordance was observed in natively conducted beats of left bundle branch block morphology following termination of the arrhythmia. These findings raised suspicion of occlusion myocardial infarction as the direct cause of BdVT. This was subsequently confirmed by coronary angiography. BdVT is a distinct form of ventricular tachycardia, characterized by beat-to-beat alternation in QRS axis and morphology. BdVT in the context of acute ischaemia is rare and limited to case reports. Although this clinical presentation is exceptionally rare, in patients with BdVT and symptoms suggestive of acute coronary syndrome, active myocardial ischaemia should be considered as a potential underlying cause. This case highlights the utility of both the original and modified Sgarbossa criteria in identifying acute ischaemia in the setting of a wide complex rhythm.
Wnt pathway activation unlocks disease-neutral proliferative potential in human iPSC-derived cardiomyocytes: A comparative study across healthy and inherited cardiac disease models.
The therapeutic potential of Wnt/β-catenin signaling to enhance proliferation in differentiated cardiomyocytes remains underexplored, particularly in genetically diverse disease models. Here, we systematically evaluated whether pharmacological Wnt activation overrides genetic constraints to drive expansion of induced pluripotent stem cell-derived cardiomyocytes (iCMs) from healthy donors and inherited cardiomyopathy models (GAA-Pompe disease, RYR2-catecholaminergic polymorphic ventricular tachycardia, and KCNQ1-long QT syndrome type 1). Using a component-defined GiWi protocol, functionally mature iCMs were generated from a high-quality iPSC line with validated trilineage differentiation capacity. Longitudinal analysis of CHIR-induced Wnt/β-catenin activation demonstrated dose-dependent proliferative amplification, with CHIR-treated iCMs achieving > 400-fold monolayer expansion by passage 4 versus ∼8-fold in controls. Immunofluorescence quantification revealed significantly elevated Ki67+ /cTnT+ double-positive cardiomyocytes under CHIR treatment (∼20 % vs. ∼9 % in controls at passage 3). Strikingly, proliferative responses showed genetic neutrality: healthy iCMs exhibited ∼432-fold expansion compared to ∼406-fold in disease models (p = 0.72), with comparable Ki67+/cTnT+ ratios by passage 4 (healthy: ∼8.9 %; disease: ∼8.3 %). These findings demonstrate that timed Wnt activation overrides genetic lesions to enable disease-agnostic proliferation in differentiated iCMs. This genetic neutrality supports standardized regenerative strategies for genetically heterogeneous cardiomyopathies and arrhythmias, addressing a critical challenge in developing personalized cardiac therapies.
Publicações recentes
Two novel ryanodine receptor 2 mutations associated with catecholaminergic polymorphic ventricular tachycardia in children: two case reports and literature review.
Imaging and safety profiling of inhaled siRNA RyR2 in human respiratory models.
Unexpected Pediatric Cardiac Arrest in a Toddler: A Case of Catecholaminergic Polymorphic Ventricular Tachycardia Presenting as Ventricular Fibrillation.
Refractory Atrial Tachycardia and Ivabradine in a Case of Catecholaminergic Polymorphic Ventricular Tachycardia.
Novel RYR2-A4510T Variant Presenting Both as Autosomal Dominant and Autosomal Recessive Catecholaminergic Polymorphic Ventricular Tachycardia.
📚 EuropePMC560 artigos no totalmostrando 196
Breakthrough ventricular fibrillation in a patient with catecholaminergic polymorphic ventricular tachycardia after a decade of stability: A follow-up report.
HeartRhythm case reportsCa2+ signalling in cardiac muscle: the importance of balances.
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 CardiologyGeneration of three heterozygous and two homozygous hiPSC lines from a CPVT associated mutation RYR2_p.G357S from a large family of the Canary Islands.
Stem cell researchPaediatric inherited arrhythmia clinic: developing a new model of care.
BMJ paediatrics openListen to your heart and its sympathetic nerves in CPVT.
The Journal of physiologyNeurocardiogenetics: Exploring the association of rare RYR2 variants with neuropsychiatric disorders in general and disease populations.
Journal of neurogeneticsBidirectional ventricular tachycardia caused by occlusion myocardial infarction-a case report.
European heart journal. Case reportsRyanodine receptor 2 mutations in catecholaminergic polymorphic ventricular tachycardia: From molecular mechanisms to precision medicine.
World journal of cardiologyFlecainide use before and after the Cardiac Arrhythmia Suppression Trial: A systematic review.
Heart rhythmHuman-derived cardiac-neural microtissues reveal catecholaminergic polymorphic ventricular tachycardia is also a disease of the sympathetic neuron.
The Journal of physiology[Cardiac arrhythmias-Cellular mechanisms, consequences and challenges in the diagnostics using human models].
HerzThe emerging role of calsequestrin 2: from calcium sensor and modulator to arrhythmia driver.
Journal of physiology and biochemistryCatecholaminergic Polymorphic Ventricular Tachycardia in a Pregnant Woman.
Maternal-fetal medicine (Wolters Kluwer Health, Inc.)Long-term follow-up of patients with catecholaminergic polymorphic ventricular tachycardia related to a novel CALM2 variant.
Journal of cardiology casesRisk stratification for RYR2-mediated catecholaminergic polymorphic ventricular tachycardia: time to broaden the lens.
European heart journalCorrigendum to: "Gene Therapy for Catecholaminergic Polymorphic Ventricular Tachycardia" [Heart Lung Circ. 32(7), (2023) 790-797.].
Heart, lung & circulationFinding a new rhythm: child health-related quality of life, parent psychological distress, and unmet needs among families of children with cardiac channelopathies.
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitationManagement of induction of labour and subsequent emergency caesarean birth in a parturient with catecholaminergic polymorphic ventricular tachycardia.
Anaesthesia reportsCatecholaminergic polymorphic ventricular tachycardia mediated by ryanodine receptor 2: a validated risk stratification.
European heart journalThe neuro-cardiac axis in epilepsy.
European journal of internal medicineCaenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes.
The Journal of physiologyIntroduction of a single carboxylic acid converts the cyclic oligomeric depsipeptide ent-verticilide from a ryanodine receptor 2 (RyR2) inhibitor to RyR2 activator.
Molecular pharmacologyHomozygous and heterozygous penetrance of a missense CASQ2 variant in a South Asian family.
HeartRhythm case reportsEpidemiology of paediatric inherited arrhythmogenic diseases under "Real World" conditions: findings from a 10-year longitudinal study in Eastern Austria.
European journal of pediatricsSignature ECG part 5: Exercise induced syncope.
Indian pacing and electrophysiology journalCatecholaminergic polymorphic ventricular tachycardia: A narrative review of recent advances in genetics, mechanisms, diagnosis, and treatment.
Asian heart journalComparative investigation of Cx3cr1-Expressing Cardiac Macrophages in Atrioventricular Nodes of Wild-Type and Catecholaminergic Polymorphic Ventricular Tachycardia Mouse Model.
Cardiovascular pathology : the official journal of the Society for Cardiovascular PathologyNeurocognitive Delay in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia.
Circulation. Genomic and precision medicineRYR2 Exon 3 Deletion as a Cause of Convergent Catecholaminergic Polymorphic Ventricular Tachycardia and Cardiomyopathy.
Circulation. Heart failureWnt pathway activation unlocks disease-neutral proliferative potential in human iPSC-derived cardiomyocytes: A comparative study across healthy and inherited cardiac disease models.
Tissue & cellA Homozygous Mutation (c.241G > A, p.A81T) in the Calsequestrin-2 Causes Eye Defects in Zebrafish.
Biochemical geneticsCalmodulinopathies: 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: The Ryanodine Receptor Related Inherited Cardiac Syndromes.
Cardiac electrophysiology clinicsOptimizing 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 anaesthesiaA ryanodine receptor 2 gene variant associated with left ventricular non-compaction, cardiac conduction disease, ventricular arrhythmias, and sudden cardiac death.
Cardiology in the youngCardiac sympathetic denervation for refractory ventricular arrhythmias in patients with inherited cardiomyopathies.
Heart rhythmClustered Regularly Interspaced Short Palindromic Repeats Genome Editing for Cardiovascular Disease: The Future Is Here.
Cardiology in reviewGene Therapy for Inherited Cardiac Arrhythmias.
Journal of cardiovascular translational researchIncreased Intermembrane Space [Ca2+] Drives Mitochondrial Structural Damage in CPVT.
Circulation researchCRISPR/Cas9-Based Gene Editing for Correcting Inherited Channelopathies.
Cardiology in reviewDirect Therapeutic Modulation of RYR2 Activity by CMYA5.
CirculationImplantable 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 CardiologyA positive allosteric modulator of the β1AR with antagonist activity for catecholaminergic polymorphic ventricular tachycardia.
The Journal of clinical investigationDistinct 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 CardiologyIntellectual and Neurodevelopmental Delays in Pediatric Catecholaminergic Polymorphic Ventricular Tachycardia: Distinct Characteristics and a More Malignant Neurocardiac Phenotype.
Circulation. Arrhythmia and electrophysiologySeizure-Syncope: Clinical implications from two Chinese CPVT children with two novel RYR2 variants.
GeneCPVT1 point mutations in RyR2 S5 and S6 segments and their Ca2+ signaling consequence.
Cell calciumNovel Biallelic TECRL Gene Variants Associated with Familial Catecholaminergic Polymorphic Ventricular Tachycardia in a Chinese Family with a History of Sudden Cardiac Death.
The Tohoku journal of experimental medicineImagenomics and Ventricular Arrhythmia: The Scar, The Channel, The Variant.
JACC. Case reportsRYR2 Variants in Catecholaminergic Polymorphic Ventricular Tachycardia Patients: Insights From Protein Structure and Clinical Data.
Circulation. Arrhythmia and electrophysiologyThe blueprint of neurocardiac crosstalk in arrhythmic syndromes.
American journal of physiology. Cell physiologyGene Therapy for Cardiac Arrhythmias: Mechanisms, Modalities and Therapeutic Applications.
Medical sciences (Basel, Switzerland)Comments on "Genetic and clinical characteristics of catecholaminergic polymorphic ventricular tachycardia in a Taiwanese nationwide cohort".
Journal of the Formosan Medical Association = Taiwan yi zhiA Comprehensive Review of a Mechanism-Based Ventricular Electrical Storm Management.
Journal of clinical medicineArrhythmic Risk and Clinical Features in Catecholaminergic Polymorphic Ventricular Tachycardia: Results From a Multicenter Study in Korea.
The American journal of cardiologyManagement of channelopathies in children.
Herzschrittmachertherapie & ElektrophysiologieUnusual catecholaminergic polymorphic ventricular tachycardia and bradycardia caused by a novel triadin variant in 2 siblings from a Malian family.
MedicinePsychosocial impact of inherited arrhythmia syndromes on anxiety in paediatric patients and their families.
Cardiology in the youngSudden Cardiac Arrest and Death in Sports: An Updated Overview of Epidemiology, Etiologies, and Prevention Strategies, with Emphasis on Inherited Cardiomyopathies.
Seminars in thrombosis and hemostasisCompromised repolarization reserve in a murine model of catecholaminergic polymorphic ventricular tachycardia caused by RyR2-R420Q mutation.
Journal of molecular and cellular cardiologyThe Diagnostic Value of Copy Number Variants in Genetic Cardiomyopathies and Channelopathies.
Journal of cardiovascular development and diseaseInherited arrhythmia syndromes - Cardiogenetics.
Indian pacing and electrophysiology journalDisruption of ventricular activation by subthreshold delayed afterdepolarizations in RyR2-R420Q catecholaminergic polymorphic ventricular tachycardia.
Journal of molecular and cellular cardiology plusNovel causative RYR2 indel variant with exon and intron involvement inducing exon 13 skipping in a family exhibiting catecholaminergic polymorphic ventricular tachycardia.
Frontiers in geneticsRegional Anesthesia With Levobupivacaine in a Patient With a RyR2 Gene Mutation After Cardiac Arrest: A Case Report.
CureusCatecholaminergic polymorphic ventricular tachycardia in children-incidence and trends in detection, presentation and management.
Archives of disease in childhoodDemographics, Clinical Features and Genetics of Common Inherited Arrhythmias in Oman.
Journal of the Saudi Heart AssociationSimultaneous optical recording of action potentials and calcium transients in cardiac single cells differentiated from type 1 CPVT-iPS cells.
Frontiers in physiologyUpdates on inherited arrhythmia syndromes (Brugada syndrome, long QT syndrome, CPVT, ARVC).
Progress in cardiovascular diseasesCatecholaminergic polymorphic ventricular tachycardia and early-onset atrial fibrillation in a tactical athlete with a heterozygous truncating variant in TRDN.
HeartRhythm case reportsIdentification of a novel TECRL variant causing type 3 catecholaminergic polymorphic ventricular tachycardia.
Frontiers in pediatricsPharmacological Enhancement of Small Conductance Ca2+-Activated K+ Channels Suppresses Cardiac Arrhythmias in a Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia.
Circulation researchCatecholaminergic Polymorphic Ventricular Tachycardia in a 16-year-old: Case Report.
Clinical practice and cases in emergency medicineOutcomes and Burdens to Return-to-Play for Phenotype Negative Athletes With a Genetic Heart Disease.
JACC. Clinical electrophysiologySudden Cardiac Death in Pregnant Women-Literature Review and Autopsy Findings.
Diagnostics (Basel, Switzerland)[Catecholaminergic Polymorphic Ventricular Tachycardia Caused by a Homozygous Pathogenic Variant in Calsequestrin 2 Gene].
KardiologiiaUnveiling catecholaminergic polymorphic ventricular tachycardia: A case of type 2 ryanodine receptor exon 3 deletion mimicking long QT syndrome type 1.
HeartRhythm case reportsCatecholaminergic polymorphic ventricular tachycardia-linked ryanodine receptor variants exhibit domain-specific calcium leak and calmodulin affinity properties.
The Journal of physiologyCardiac Channelopathies: Clinical Diagnosis and Promising Therapeutics.
Journal of the American Heart AssociationStellate Ganglia: A Key Therapeutic Target for Malignant Ventricular Arrhythmia in Heart Disease.
Circulation researchAnesthetic Challenges of Labor and Delivery in a Patient With Catecholaminergic Polymorphic Ventricular Tachycardia and Left Ventricular Non-Compaction Cardiomyopathy.
Clinical case reportsClinical and electrophysiological characterization of a SCN5A gain-of-function mutation associated with CPVT-like arrhythmia.
Journal of molecular and cellular cardiologyStructural Evaluation of RYR2-CPVT Missense Variants and Continuous Bayesian Estimates of their Penetrance.
medRxiv : the preprint server for health sciencesThe diagnostic role of pharmacological provocation testing in cardiac electrophysiology: a clinical consensus statement of the European Heart Rhythm Association and the European Association of Percutaneous Cardiovascular Interventions (EAPCI) of the ESC, the ESC Working Group on Cardiovascular Pharmacotherapy, the Association of European Paediatric and Congenital Cardiology (AEPC), the Paediatric & Congenital Electrophysiology Society (PACES), the Heart Rhythm Society (HRS), the Asia Pacific Heart Rhythm Society (APHRS), and the Latin American Heart Rhythm Society (LAHRS).
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 CardiologyHeart on Fire: Unmasking RyR2 Mutation in Stress-Induced Ventricular Arrhythmias.
Methodist DeBakey cardiovascular journalCatecholaminergic Polymorphic Ventricular Tachycardia: Advancing From Molecular Insights to Preclinical Models.
Journal of the American Heart AssociationAssociation of dysautonomia with refractory ventricular tachyarrhythmia in patients requiring thoracoscopic surgical cardiac sympathetic denervation.
JTCVS openA Different Way to Slow Down in Catecholaminergic Polymorphic Ventricular Tachycardia.
JACC. Clinical electrophysiologyIdentification of Mutations of the RYR2 in Sudden Infant Death Syndrome.
Journal of Korean medical scienceNon-juvenile familial form of life-threatening arrhythmias caused by the Ryanodine Receptor type 2 c.13823 G>A, p.(Arg4608Gln) pathogenic variant: Atypical catecholaminergic polymorphic ventricular Tachycardia or misdiagnosis?
Forensic science international. GeneticsArrhythmogenic Potential of Heterozygous TECRL Variants in Type 3 Catecholaminergic Polymorphic Ventricular Tachycardia.
JACC. Clinical electrophysiologyGenetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study.
International journal of molecular sciencesIncidence and Clinical Management of Supraventricular Arrhythmias in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia.
JACC. Clinical electrophysiologyPrognostic relevance of baseline exercise stress test in RYR2-related CPVT.
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 CardiologyA Novel Approach for In Vitro Testing and Hazard Evaluation of Nanoformulated RyR2-Targeting siRNA Drugs Using Human PBMCs.
Life (Basel, Switzerland)Genetics, manifestations, and management of catecholaminergic polymorphic ventricular tachycardia.
Current opinion in cardiologyGeneration of an isogenic CRISPR/Cas9-corrected control induced pluripotent stem cell line from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia with a heterozygous variant in cardiac calsequestrin-2.
Stem cell researchArrhythmogenic calmodulin variants D131E and Q135P disrupt interaction with the L-type voltage-gated Ca2+ channel (Cav1.2) and reduce Ca2+-dependent inactivation.
Acta physiologica (Oxford, England)The Role of RyR2 Mutations in Congenital Heart Diseases: Insights Into Cardiac Electrophysiological Mechanisms.
Journal of cardiovascular electrophysiologyFlecainide Specifically Targets the Monovalent Countercurrent Through the Cardiac Ryanodine Receptor, While a Dominant Opposing Ca2+/Ba2+ Current Is Present.
International journal of molecular sciencesDisparate molecular mechanisms in cardiac ryanodine receptor channelopathies.
Frontiers in molecular biosciencesExtracorporeal membrane oxygenation for catecholaminergic polymorphic ventricular tachycardia: a case report and literature review.
BMC pediatricsCase Report: The unrelenting journey-successful resolution of catecholaminergic polymorphic ventricular tachycardia (CPVT) through right cardiac sympathetic denervation in a teenager after left cardiac sympathetic denervation.
Frontiers in cardiovascular medicineCatecholaminergic Polymorphic Ventricular Tachycardia in Children: Insights and Challenges From the Current Study.
Korean circulation journalTreatment Outcomes in Children With Catecholaminergic Polymorphic Ventricular Tachycardia: A Single Institutional Experience.
Korean circulation journalInfluence of age and sex on the diagnostic yield of inherited cardiac conditions in sudden arrhythmic death syndrome decedents.
European journal of preventive cardiologyInternational Multicenter Cohort Study on Beta-Blocker-Free Treatment Strategies for Catecholaminergic Polymorphic Ventricular Tachycardia Patients.
JACC. Clinical electrophysiologyDual calcium-voltage optical mapping of regional voltage and calcium signals in intact murine RyR2-R2474S hearts.
Journal of molecular and cellular cardiology plusConditional ablation of MCU exacerbated cardiac pathology in a genetic arrhythmic model of CPVT.
Journal of molecular and cellular cardiology plusA case report of familial catecholaminergic polymorphic ventricular tachycardia with a novel mutation in the ryanodine receptor 2.
European heart journal. Case reportsVoltage Gated Calcium Channel Dysregulation May Contribute to Neurological Symptoms in Calmodulinopathies.
bioRxiv : the preprint server for biologyExploring Cardiac Sympathetic Denervation as a Treatment Approach for Recurrent Ventricular Arrhythmias: A Concise Review.
Journal of clinical & experimental cardiologyCPVT, PVCs, and Ambulatory Monitoring: Can Old Technology Be Used in New Ways?
JACC. Clinical electrophysiologyThe Role of Human-Induced Pluripotent Stem Cells in Studying Cardiac Channelopathies.
International journal of molecular sciencesCopy Number Variants in Cardiac Channelopathies: Still a Missed Part in Routine Arrhythmic Diagnostics.
BiomoleculesGain-of-Function and Loss-of-Function Mutations in the RyR2-Expressing Gene Are Responsible for the CPVT1-Related Arrhythmogenic Activities in the Heart.
Current issues in molecular biologyLong-term clinical course of patients with catecholaminergic polymorphic ventricular tachycardia: A more than 10-year follow-up cohort study.
Annals of pediatric cardiologyaTrial arrhythmias in inhEriTed aRrhythmIa Syndromes: results from the TETRIS 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 CardiologySudden Cardiac Death and Channelopathies: What Lies behind the Clinical Significance of Rare Splice-Site Alterations in the Genes Involved?
GenesElectrical storms induced by multiple shocks in catecholaminergic polymorphic ventricular tachycardia, spotlight.
Journal of arrhythmiaGeneration of a heterozygous Calsequestrin 2 F189L iPSC line (UMGi158-B) by CRISPR/Cas9 genome editing to investigate the cardiac pathophysiology of Takotsubo Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia.
Stem cell researchInhibitors of Intracellular RyR2 Calcium Release Channels as Therapeutic Agents in Arrhythmogenic Heart Diseases.
Annual review of pharmacology and toxicologyStructure-activity optimization of ryanodine receptor modulators for the treatment of catecholaminergic polymorphic ventricular tachycardia.
Heart rhythmGeneration of a human induced pluripotent stem cell line (KSCBi016-A) from a CPVT patient with an RYR2 mutation.
Stem cell researchIdiopathic Ventricular Fibrillation - Just How Much Idiopathic is it?
Reviews in cardiovascular medicineThe Diagnostic Utility of Holter Monitoring in Catecholaminergic Polymorphic Ventricular Tachycardia.
JACC. Clinical electrophysiologyGeneration of human induced pluripotent stem cell lines from patients with a RYR2 gene variant c.14201A>G (p.Y4734C): Implications for idiopathic ventricular fibrillation and catecholaminergic polymorphic ventricular tachycardia.
Stem cell researchInduction of ventricular fibrillation during programmed ventricular stimulation in a patient with CASQ2 heterozygous mutation.
Journal of cardiovascular electrophysiologyWhat an anesthesiologist should know about pediatric arrhythmias.
Paediatric anaesthesiaAssessing the impact and safety of implantable cardioverter defibrillators in treating catecholaminergic polymorphic ventricular tachycardia: a systematic review and meta-analysis protoc.
BMJ openCardiac sympathetic denervation for catecholaminergic polymorphic ventricular tachycardia in the light of the medical situation in Japan.
Journal of arrhythmiaRare Presentation of Wide QRS Tachycardia in a Patient in Their 40s.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc[Catecholaminergic polymorphic ventricular tachycardia (CPVT): an insidious disease that can often lead to sudden cardiac death in young people].
MMW Fortschritte der MedizinA rare case report of catecholaminergic polymorphic ventricular tachycardia with an uncommon CALM2 mutation.
European heart journal. Case reportsGenetic and clinical characteristics of catecholaminergic polymorphic ventricular tachycardia in a Taiwanese nationwide cohort.
Journal of the Formosan Medical Association = Taiwan yi zhiAllergy therapy for patients with a cardiac channelopathy: Do not withhold lifesaving treatments.
Heart rhythm[Cardiac channelopathies in the context of hereditary arrhythmia syndromes].
Innere Medizin (Heidelberg, Germany)Ion Channel Diseases as a Cause of Sudden Cardiac Death in Young People: Aspects of Their Diagnosis, Treatment, and Pathogenesis.
Deutsches Arzteblatt internationalTop stories on catecholaminergic polymorphic ventricular tachycardia (2022-2024).
Heart rhythmDivergent Biochemical Properties and Disparate Impact of Arrhythmogenic Calmodulin Mutations on Zebrafish Cardiac Function.
Journal of cellular biochemistryA Clinical Diagnostic Test for Calcium Release Deficiency Syndrome.
JAMAMolecular Pathways and Animal Models of Arrhythmias.
Advances in experimental medicine and biologyHuman Genetics of Cardiac Arrhythmias.
Advances in experimental medicine and biologySudden cardiac arrest occurring in temporal proximity to consumption of energy drinks.
Heart rhythmDiverse Phenotypic Manifestations in a Family with a Novel RYR2 E4107A Variant.
International heart journalPrecision medicine in catecholaminergic polymorphic ventricular tachycardia: Recent advances toward personalized care.
Annals of pediatric cardiologyNovel variants in TECRL leading to catecholaminergic polymorphic ventricular tachycardia.
Life science allianceGene therapy with phosphodiesterases 2A and 4B ameliorates heart failure and arrhythmias by improving subcellular cAMP compartmentation.
Cardiovascular researchNovel Compound Heterozygous Variants in Trans-2,3-Enoyl-Coenzyme A Reductase-Like Gene Associated With Catecholaminergic Polymorphic Ventricular Tachycardia.
JACC. Case reportsDexmedetomidine inhibited arrhythmia susceptibility to adrenergic stress in RyR2R2474S mice through regulating the coupling of membrane potential and intracellular calcium.
Biochemical and biophysical research communicationsMitochondrial Calcium Regulation of Cardiac Metabolism in Health and Disease.
Physiology (Bethesda, Md.)The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
PloS oneCatheter Ablation for Channelopathies: When Is Less More?
Journal of clinical medicineCompliance and complications in catecholaminergic polymorphic ventricular tachycardia.
Heart rhythmPrognosis and clinical management of asymptomatic family members with RYR2-mediated catecholaminergic polymorphic ventricular tachycardia: a review.
Cardiology in the youngDiscovery and Structure-Activity Relationship of a Ryanodine Receptor 2 Inhibitor.
Chemical & pharmaceutical bulletinAn inherited life-threatening arrhythmia model established by screening randomly mutagenized mice.
Proceedings of the National Academy of Sciences of the United States of AmericaAn international multicenter cohort study on implantable cardioverter-defibrillators for the treatment of symptomatic children with catecholaminergic polymorphic ventricular tachycardia.
Heart rhythmGenetic generalized epilepsy with catecholaminergic polymorphic ventricular tachycardia complicated by ryanodine receptor 2 variant: A case report.
SeizureA novel RyR2 mutation associated with co-morbid catecholaminergic polymorphic ventricular tachycardia (CPVT) and benign epilepsy with centrotemporal spikes (BECTS).
Journal of electrocardiologyLocation of ryanodine receptor type 2 mutation predicts age of onset of sudden death in catecholaminergic polymorphic ventricular tachycardia - A systematic review and meta-analysis of case-based literature.
medRxiv : the preprint server for health sciencesCatecholaminergic Polymorphic Ventricular Tachycardia: Clinical Characteristics, Diagnostic Evaluation and Therapeutic Strategies.
Journal of clinical medicineLong-term efficacy and safety of cardiac genome editing for catecholaminergic polymorphic ventricular tachycardia.
The journal of cardiovascular agingRYR2 receptor gene mutation associated with catecholaminergic polymorphic ventricular tachycardia in children: a case report & literature review.
Translational pediatricsWhole-exome sequencing in familial type 2 diabetes identifies an atypical missense variant in the RyR2 gene.
Frontiers in endocrinologyIn Vivo Cardiac Electrophysiology in Mice: Determination of Atrial and Ventricular Arrhythmic Substrates.
Current protocolsInsights into adherence to medication and lifestyle recommendations in an international cohort of patients with catecholaminergic polymorphic ventricular tachycardia.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of CardiologyPrimary Electrical Heart Disease-Principles of Pathophysiology and Genetics.
International journal of molecular sciencesA Case Report of Elective Bilateral Proximal Intercostal Blocks Used to Prevent Arrhythmia in Catecholaminergic Polymorphic Ventricular Tachycardia.
A&A practiceTranscriptome analysis of effects of Tecrl deficiency on cardiometabolic and calcium regulation in cardiac tissue.
Open medicine (Warsaw, Poland)Inherited Arrhythmias in the Pediatric Population: An Updated Overview.
Medicina (Kaunas, Lithuania)Dual effect of cardiac FKBP12.6 overexpression on excitation-contraction coupling and the incidence of ventricular arrhythmia depending on its expression level.
Journal of molecular and cellular cardiologyEarly-onset cardiac arrest, prolonged QT interval, and left ventricular hypertrophy: Phenotypic manifestations of a pathogenic de novo calmodulin variant.
HeartRhythm case reportsCatecholaminergic Polymorphic Ventricular Tachycardia: Multiple Clinical Presentations of a Genetically Determined Disease.
Journal of clinical medicineThe proarrhythmogenic role of autonomics and emerging neuromodulation approaches to prevent sudden death in cardiac ion channelopathies.
Cardiovascular researchDual-Dye Optical Mapping of Hearts from RyR2 R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia.
Journal of visualized experiments : JoVEThe Relationship Between Ventilatory Anaerobic Threshold and Arrhythmia in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia.
JACC. Clinical electrophysiologySmooth Emergence from General Anesthesia after Deep Extubation in a Pediatric Patient Diagnosed with Catecholaminergic Polymorphic Ventricular Tachycardia: A Case Report.
Medicina (Kaunas, Lithuania)The Structural-Functional Crosstalk of the Calsequestrin System: Insights and Pathological Implications.
BiomoleculesAssessment of Sudden Cardiac Death Risk in Pediatric Primary Electrical Disorders: A Comprehensive Overview.
Diagnostics (Basel, Switzerland)Electrophysiological Characteristics and Ablation Outcomes in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia.
Journal of the American Heart AssociationApplication and validation of phenotype-enhanced variant classification in East Asian patients with catecholaminergic polymorphic ventricular tachycardia.
Heart rhythmClinical and genetic profiles of chinese pediatric patients with catecholaminergic polymorphic ventricular tachycardia.
Orphanet journal of rare diseasesFocal atrial tachycardia mimicking catecholaminergic polymorphic ventricular tachycardia: a case report.
European heart journal. Case reportsCatecholaminergic Polymorphic Ventricular Tachycardia and Gene Therapy: A Comprehensive Review of the Literature.
CureusInsights on the mechanism of flecainide in catecholaminergic polymorphic ventricular tachycardia.
Journal of medicine and lifeExercise-Induced Ventricular Tachycardia: A Case Report.
CureusAnesthetic Management for Dental Extraction in a Patient With Catecholaminergic Polymorphic Ventricular Tachycardia Syndrome: A Case Report.
CureusClinical and genetic characteristics of catecholaminergic polymorphic ventricular tachycardia combined with left ventricular non-compaction.
Cardiology in the youngCatecholaminergic polymorphic ventricular tachycardia (and seizure) caused by a novel homozygous likely pathogenic variant in CASQ2 gene.
GeneFlecainide Is Associated With a Lower Incidence of Arrhythmic Events in a Large Cohort of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia.
CirculationBroad and narrow complex tachycardia resulting in cardiorespiratory arrest in a child: what is the optimal treatment strategy?
European heart journal. Case reportsSurvival in a young child with out-of-hospital cardiac arrest: diagnostic dilemma and when to deviate from standard resuscitation guidelines.
BMJ case reportsLife-threatening cardiac arrhythmia and sudden death during electronic gaming: An international case series and systematic review.
Heart rhythmSudden pediatric cardiac arrest with catecholaminergic polymorphic ventricular tachycardia: When epinephrin should be avoided.
ResuscitationScreening for Novel Type 2 Ryanodine Receptor Inhibitors by Endoplasmic Reticulum Ca2+ Monitoring.
Molecular pharmacologyAssociações
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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.
- Ca2+ signalling in cardiac muscle: the importance of balances.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 41824801mais citado
- Generation of three heterozygous and two homozygous hiPSC lines from a CPVT associated mutation RYR2_p.G357S from a large family of the Canary Islands.
- Paediatric inherited arrhythmia clinic: developing a new model of care.
- Bidirectional ventricular tachycardia caused by occlusion myocardial infarction-a case report.
- Wnt pathway activation unlocks disease-neutral proliferative potential in human iPSC-derived cardiomyocytes: A comparative study across healthy and inherited cardiac disease models.
- Two novel ryanodine receptor 2 mutations associated with catecholaminergic polymorphic ventricular tachycardia in children: two case reports and literature review.
- Imaging and safety profiling of inhaled siRNA RyR2 in human respiratory models.
- Unexpected Pediatric Cardiac Arrest in a Toddler: A Case of Catecholaminergic Polymorphic Ventricular Tachycardia Presenting as Ventricular Fibrillation.
- Refractory Atrial Tachycardia and Ivabradine in a Case of Catecholaminergic Polymorphic Ventricular Tachycardia.
- Novel RYR2-A4510T Variant Presenting Both as Autosomal Dominant and Autosomal Recessive Catecholaminergic Polymorphic Ventricular Tachycardia.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:3286(Orphanet)
- MONDO:0017990(MONDO)
- GARD:4421(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1649897(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
