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Síndrome de microcefalia-hipoplasia cerebelosa-defeito cardíaco de condução
ORPHA:329332CID-10 · Q87.8OMIM 614407DOENÇA RARA

A síndrome microcefalia-hipoplasia cerebelar-defeito de condução cardíaca é uma síndrome dismórfica/anomalias congênitas genéticas raras caracterizada por falha de crescimento, atraso global no desenvolvimento, deficiência intelectual profunda, comportamentos autistas, bloqueio cardíaco adquirido de segundo grau com bradicardia e instabilidade vasomotora. Mãos e pés apresentam dedos fusiformes longos, campto-clinodactilia e dedos apinhados, enquanto o dismorfismo craniofacial inclui microcefalia, testa larga, sobrancelhas finas, fissuras palpebrais inclinadas para cima, orelhas grandes com antélice proeminente, nariz proeminente, filtro longo, lábio superior fino vermelhão e lábio inferior proeminente. Os sinais neurológicos incluem hipotonia, reflexos rápidos, movimentos do tipo distônico e ataxia troncular e os exames de imagem mostram hipoplasia cerebelar e padrão giral simplificado.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A síndrome microcefalia-hipoplasia cerebelar-defeito de condução cardíaca é uma síndrome dismórfica/anomalias congênitas genéticas raras caracterizada por falha de crescimento, atraso global no desenvolvimento, deficiência intelectual profunda, comportamentos autistas, bloqueio cardíaco adquirido de segundo grau com bradicardia e instabilidade vasomotora. Mãos e pés apresentam dedos fusiformes longos, campto-clinodactilia e dedos apinhados, enquanto o dismorfismo craniofacial inclui microcefalia, testa larga, sobrancelhas finas, fissuras palpebrais inclinadas para cima, orelhas grandes com antélice proeminente, nariz proeminente, filtro longo, lábio superior fino vermelhão e lábio inferior proeminente. Os sinais neurológicos incluem hipotonia, reflexos rápidos, movimentos do tipo distônico e ataxia troncular e os exames de imagem mostram hipoplasia cerebelar e padrão giral simplificado.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
4
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
9 sintomas
😀
Face
4 sintomas
🦴
Ossos e articulações
3 sintomas
❤️
Coração
2 sintomas
📏
Crescimento
2 sintomas
💪
Músculos
2 sintomas

+ 10 sintomas em outras categorias

Características mais comuns

Anti-hélice proeminente
Microcefalia
Bradicardia
Acrocianose
Morfologia anormal da substância branca cerebral
Microcefalia progressiva
33sintomas
Sem dados (33)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 33 características clínicas mais associadas, ordenadas por frequência.

Anti-hélice proeminenteProminent antihelix
MicrocefaliaMicrocephaly
BradicardiaBradycardia
AcrocianoseAcrocyanosis
Morfologia anormal da substância branca cerebralAbnormal cerebral white matter morphology

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2025105 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome de microcefalia-hipoplasia cerebelosa-defeito cardíaco de condução

🗺️

Selecione um estado ou use sua localização para ver resultados.

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

Timeline de publicações
0 papers (10 anos)
#1

Clinical profile and prognosis of brugada syndrome SCN5A variant carriers with negative sodium channel blocker challenge.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology2026 Mar 10

Loss-of-function (LOF) variants in SCN5A are associated with Brugada syndrome (BrS), progressive conduction slowing, and other arrhythmias. While the prognosis of SCN5A carriers with a positive sodium channel blocker challenge (SCBC) is established, data on those with negative SCBC are limited. To assess the clinical presentation and prognosis of SCN5A variant carriers with negative SCBC, and compare them to relatives with positive SCBC. We retrospectively included patients from five university hospitals (2000-2024) carrying a pathogenic or likely pathogenic SCN5A variant and negative SCBC. Relatives with the same variant and positive SCBC were also analysed. Patients with spontaneous type 1 ECG, gain-of-function variants, double variants, or ACMG class 1-3 variants were excluded. Clinical, ECG, genetic, and follow-up data were collected. Conduction slowing was evaluated using the PR interval and QRS duration. The cohort included 162 patients from 43 families (median age 37 ± 19 years, 46% male), of whom 69 (43%) had negative SCBC. Among these 69 patients, 25 (36%) had baseline intraventricular conduction defects, and 19 (28%) had first-degree AV block. After a median follow-up of 75 [40-168] months, 52% of patients developed progressive conduction slowing. Negative SCBC patients had fewer conduction defects (36% vs. 70%, p = 0.002) and ICD implantations (1% vs. 23%, P < 0.001). Non-missense variants were associated with more conduction slowing (71% vs. 42%, P = 0.04). This multicentre study provides the largest analysis of SCN5A carriers with negative SCBC, showing excellent arrhythmic prognosis despite frequent progressive conduction slowing.

#2

QT Myopia and Cardiac Safety: Expanding the Aperture of Arrhythmia Assessment in Early Phase Drug Development.

Clinical and translational science2026 Mar

Regulatory agencies such as the Food and Drug Administration (FDA), European Medicines Agency (EMA), Health Canada, and the Japanese Pharmaceutical and Medical Device Agency (PMDA) provide scientific and public health guidance with cardiac safety being paramount in drug development of new investigational products (IP). Cardiac safety is not a singular undertaking but rather encompasses many elements to be considered beyond measurement of the QT interval before a candidate drug receives regulatory approval. These safety assessments may include evaluation of additional targeted and non-targeted cardiovascular effects such as whether the IP mediates cardiac or pericardial inflammation or affects blood pressure, the coronary or systemic vasculature, heart valves, or cardiac muscle. Historically, the primary cardiac safety concern of regulators was the proarrhythmic risk of new chemical entities and has been centered on the QT interval as a marker of a drug's ability to delay ventricular repolarization and its potential to precipitate lethal ventricular rhythms. Beyond this biomarker, there has only been tangential focus on the PR and QRS intervals, conduction disturbances and supraventricular arrhythmias, and formal regulatory guidance pertaining to these findings has not been published. Hence, this review is designed to expand the myopic view of cardiac safety beyond the QT interval and highlight the importance of clinical nonlethal arrhythmias and conduction abnormalities involving novel non-antiarrhythmic small molecules for which more robust monitoring and surveillance should be contemplated.

#3

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 research2026 Apr

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.

#4

A Phase I Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Fenebrutinib and Effect on the QT/QTc Interval in Healthy Participants.

Clinical and translational science2026 Mar

Fenebrutinib is a Bruton's tyrosine kinase inhibitor under investigation for the treatment of multiple sclerosis. The goal of this study was to investigate the effect of fenebrutinib on cardiac repolarization (QT interval) as well as its safety, tolerability, and pharmacokinetics in healthy participants. Part A was a randomized, double-blind, placebo-controlled, single-ascending dose study of therapeutic (400 mg) and supratherapeutic (700 mg) doses of fenebrutinib. Part B was a randomized, double-blind, single-dose, four-way crossover study that included both therapeutic and supratherapeutic fenebrutinib doses, a positive control (moxifloxacin 400 mg), and placebo. The QT interval was corrected for heart rate using the Fridericia formula (QTcF). Part A (n = 16) showed that both doses were well tolerated, with no serious adverse events (AEs), AEs of special interest, or Grade ≥ 2 AEs. In Part B (n = 85), all upper bounds (UBs) of one-sided 95% confidence intervals (CIs) for the least squares mean placebo-adjusted ΔQTcF (ΔΔQTcF) values were < 10 ms; maximum observed values were 5.3 and 8.2 ms at 1 h after the therapeutic and supratherapeutic doses, respectively. All predefined timepoints after moxifloxacin administration had a 99% CI lower bound of ΔΔQTcF of > 5 ms, which confirmed assay sensitivity. In the regression analysis, UBs of one-sided 95% CIs for ΔΔQTcF at the maximum concentration of fenebrutinib were < 10 ms: 4.4 and 7.8 ms with the therapeutic and supratherapeutic doses, respectively. Overall, both doses of fenebrutinib had no clinically meaningful impact on QT interval and were well tolerated, supporting fenebrutinib's favorable safety profile and continued clinical development.

#5

Silencing the Mutant KCNH2 Allele to Reduce the Effects of Long QT Syndrome Type 2.

Frontiers in bioscience (Landmark edition)2026 Feb 12

Long-QT syndrome type 2 (LQTS2), which is associated with life-threatening cardiac arrhythmias, is caused by pathogenic heterozygous loss-of-function mutations in the KCNH2 gene. This gene encodes the pore-forming Kv11.1 α-subunit of the ion channel that carries the rapid delayed rectifier potassium current (IKr). Pathogenic loss-of-function mutations reduce the amplitude of IKr, thereby prolonging the action potential (AP) of ventricular cardiomyocytes, and in turn, the QT interval of the electrocardiogram (ECG). The aim of the present in silico study was to test the extent to which allele-specific suppression ('silencing') of the mutant KCNH2 allele can alleviate the effects of dominant-negative LQTS2 mutations. Two recent and comprehensive models of the electrical activity of a single human ventricular cardiomyocyte, i.e., the 'Bartolucci-Passini-Severi model as published in 2020' and the 'Tomek-Rodriguez model following the O'Hara-Rudy dynamic (ORd) model' (known as the BPS2020 and ToR-ORd models, respectively) were used to assess the effects of mild and severe LQTS2 mutations on the AP duration at 90% repolarization (APD90) and the APD90 restitution obtained with an S1-S2 pacing protocol. For severe mutations, the mutation-induced prolongation of the APD90 at a stimulation rate of 1 Hz is reduced from 166% to 99% in the BPS2020 model and from 111% to 71% in the ToR-ORd model upon 70% suppression of the mutant allele. For mild mutations, this prolongation is reduced from 77% to 44% and from 57% to 34%, respectively. An even greater effect is observed when the mutant KCNH2 allele is inhibited by up to 90%, but the greater suppression is only marginal for mild mutations. The steepness of the mutant APD90 restitution curves is considerably reduced upon suppression, which may exert an anti-arrhythmic effect. Silencing of the mutant allele can substantially, but only partially, counteract the effects of mild or severe LQTS2 mutations on IKr. Allele-specific inhibition of the mutant KCNH2 allele alone is not sufficient to fully treat the effects of LQTS2 mutations and should be accompanied by a replacement gene therapy, creating a suppression-and-replacement ("SupRep") gene therapy.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

Thorough QT Study on the Effect of Therapeutic and Supratherapeutic Dosing of Givinostat in Healthy Volunteers.

Clinical pharmacology in drug development
2026

Sex-specific short- and long-term outcomes in patients with leadless cardiac pacemakers.

Clinical research in cardiology : official journal of the German Cardiac Society
2026

Long-term changes in QT interval in hemodialysis patients.

Renal failure
2026

Bedaquiline-related QTc Prolongation in Multidrug Resistant Tuberculosis Patients: A Prospective Study.

The Journal of the Association of Physicians of India
2026

Clinical profile and prognosis of brugada syndrome SCN5A variant carriers with negative sodium channel blocker challenge.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
2026

QT Myopia and Cardiac Safety: Expanding the Aperture of Arrhythmia Assessment in Early Phase Drug Development.

Clinical and translational science
2026

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
2026

Results of a Phase 1 Study Assessing the Effect of CIN-102, a Novel Formulation of the Dopamine Receptor Antagonist Domperidone Designed to Treat Gastroparesis, on Cardiac Repolarization in Healthy Volunteers.

Clinical pharmacology in drug development
2026

Intravenous Haloperidol, Agitation, and the QTc: Misconceptions and Heuristics.

Harvard review of psychiatry
2026

[Exertional syncope: A diagnosis of long QT syndrome. A practice-oriented case report on risk stratification and management].

Praxis
2026

A Phase I Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Fenebrutinib and Effect on the QT/QTc Interval in Healthy Participants.

Clinical and translational science
2026

Model informed assessment of QT prolongation during drug development: a five-year retrospective analysis of EMA scientific advices.

Journal of pharmacokinetics and pharmacodynamics
2026

Newborn With Abnormal ECG and Family History of Sudden Cardiac Arrest.

NeoReviews
2026

Silencing the Mutant KCNH2 Allele to Reduce the Effects of Long QT Syndrome Type 2.

Frontiers in bioscience (Landmark edition)
2026

Inappropriate ICD shock occurred 34 years after the last syncope in a symptomatic Brugada patient: does arrhythmia risk shift from VF to AF with age in Brugada syndrome?

BMJ case reports
2026

Intravenous Amiodarone in Preexcited Atrial Fibrillation: A Systematic Review.

Circulation. Arrhythmia and electrophysiology
2026

Cardiac conduction system malformations in heterotaxy result from dysregulated Pitx2 expression.

JCI insight
2025

Electrocardiographic patterns in an urban community of South Kivu in the Democratic Republic of Congo.

Cardiovascular journal of Africa
2026

Upgrading expandable leadless pacemakers from single- to dual-chamber.

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

Nocturnal Atrioventricular Block: Natural History and Clinical Implications.

Journal of Korean medical science
2026

Association between maternal anti-Ro and anti-La antibody levels and congenital heart block: a 20-year cohort study.

Archives of gynecology and obstetrics
2025

Prolonged QT and Tp-e intervals in male substance abusers: insights from a cross-sectional study.

Cardiovascular journal of Africa
2025

An unexpected diagnosis: Brugada Syndrome in a healthy Kenyan male athlete.

Cardiovascular journal of Africa
2026

Concentration-QTc Analysis as an Alternative to TQT Studies: Findings From QT Evaluation and Safety Labeling Decisions in Japan.

Journal of clinical pharmacology
2026

Comparison of atrial arrhythmias and autonomic function parameters according to atrial septal defect closure techniques.

Frontiers in cardiovascular medicine
2026

An Integrated Nonclinical and Clinical Risk Assessment of the Effects of Investigational ATRi Tuvusertib on QTc Interval in Patients With Solid Tumors.

Clinical and translational science
2026

Impact of β-Blockers on the Risk of Low-Birth-Weight Infants in Women with Long QT Syndrome or Marfan Syndrome: A Single-Center Retrospective Study from 2008 to 2022 in a Tertiary Care Center.

Paediatric drugs
2026

[Sudden death recovered: Brugada syndrome, a wolf in sheep's clothing].

Medicina
2026

Adolescent with Unexplained Cardiac Hypertrophy, Ventricular Pre-Excitation, Conduction System Disease: PRKAG2 Cardiac Syndrome as a Rare Mimicker of Hypertrophic Cardiomyopathy.

Anatolian journal of cardiology
2026

The effect of oral ciprofloxacin at conventional doses on the QT interval in a tertiary outpatient setting.

The Journal of antimicrobial chemotherapy
2025

Case Report: A multidisciplinary, protocol-driven pathway from recurrent pregnancy loss to live birth in an anti-Ro/SSA-positive primary Sjögren's syndrome pregnancy with literature review.

Frontiers in immunology
2026

Bundle branch block and pacemaker Rhythm as independent predictors of mortality in critically ill cardiac patients.

International journal of cardiology
2026

Population Modeling Approach for Human Cardiac Arrhythmia Risk Prediction.

Circulation. Arrhythmia and electrophysiology
2026

Clinical Spectrum of Arrhythmogenic Entities in Spanish Children Carrying Deleterious SCN5A Variants.

International journal of molecular sciences
2026

Study evaluating dexmedetomidine in the acute treatment of electrical storm (SEDATE): Rationale and design.

American heart journal
2026

Predictive value of the hERG assay for anticipating the arrhythmogenic potential of new drugs.

Drug discovery today
2026

Phenotypic Severity of SCN5A-Related Bradycardia Is Independent of Dominant-Negative and Coupled Gating Effects.

Circulation. Arrhythmia and electrophysiology
2026

One ECG with 2 Rare Findings: Wellens Syndrome With Prolonged QT Interval in Acute Myocardial Infarction Due to LAD Occlusion.

The American journal of case reports
2026

[Wolff-Parkinson-White syndrome : Comparison of different algorithms].

Herzschrittmachertherapie &amp; Elektrophysiologie
2026

Sex Hormones and Repolarization Dynamics During the Menstrual Cycle in Women Treated With QT-Prolonging Drugs.

Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc
2026

Prediction of foetal atrioventricular conduction using maternal disease, treatment and anti-Ro/La autoantibody levels.

Rheumatology (Oxford, England)
2026

Long QT interval syndrome type 2 caused by a new missense mutation of KCNH2 gene: A case report.

Medicine
2026

SCN5A R814W-Associated Multifocal Ventricular Ectopy and Dilated Cardiomyopathy: A Treatable Channelopathy.

Journal of cardiovascular electrophysiology
2026

Clinical Mechanistic Insights Into Polymorphic Ventricular Tachycardia: Infection-Triggered Unmasking of Long QT Syndrome.

The American journal of cardiology
2026

Prescribed drugs and comorbidities as risk factors for Torsades de Pointes arrhythmia: a Swedish population-based cohort study.

European journal of clinical pharmacology
2026

Mechano-electrical feedback in transgenic rabbit models of long QT syndrome Type 2 and short QT syndrome Type 1.

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

A Thorough QT Study to Assess the Effects of Milvexian on Cardiac Repolarization in Healthy Participants.

Clinical pharmacology in drug development
2026

Supraventricular tachycardias in ion channel diseases.

Herzschrittmachertherapie &amp; Elektrophysiologie
2026

First Report on Atrial Leadless Pacing in a Lateral Tunnel Fontan Patient.

Journal of cardiovascular electrophysiology
2025

Paediatric catheter ablation guided by electroanatomical mapping with limited fluoroscopy: a single centre experience.

Cardiology in the young
2025

Takotsubo Syndrome, Complete Heart Block, and Cardiac Arrest: A Clinical Challenge.

Arquivos brasileiros de cardiologia
2026

No QTcF Prolongation with Sepiapterin: Results From a Thorough QT Study in Healthy Subjects at Therapeutic and Supratherapeutic Doses.

Journal of clinical pharmacology
2026

Anaesthetic management of a pregnant woman with Brugada syndrome undergoing Caesarean section: a case report.

BMC anesthesiology
2026

Painful left bundle branch block syndrome after interventional treatment of right coronary artery stenosis: a case report.

Journal of cardiothoracic surgery
2026

Concentration response analyses for QT data with several active compounds.

Journal of pharmacokinetics and pharmacodynamics
2026

Prolonged Corrected QT Interval as an Early Electrocardiographic Marker of Cyclophosphamide-Induced Cardiotoxicity in Pediatric Hematology and Oncology Patients.

Pediatric blood &amp; cancer
2026

Prolonged QT Interval in HIV-1 Infected Humanized Mice Treated Chronically with Dolutegravir/Tenofovir Disoproxil Fumarate/Emtricitabine.

International journal of molecular sciences
2026

Cardiovascular Consequences of Anorexia Nervosa: QT Prolongation, Bradycardia, and Structural Cardiac Changes.

Southern medical journal
2026

Identification and functional assessment of a KCNH2 compound heterozygosity in a patient with presumed idiopathic ventricular fibrillation ascertains the diagnosis of long QT syndrome type 2.

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

High-throughput screening identifies a trafficking corrector for long QT syndrome-associated KCNQ1 variants.

JCI insight
2026

Lumacaftor and fexofenadine prevent donepezil-induced LQTS via PHE656-mediated hERG chaperoning.

Biochemical pharmacology
2026

Finding 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 rehabilitation
2026

Risks encountered when not adjusting for diurnal variation and food effect in QTcF analysis based on phase I data.

Journal of pharmacokinetics and pharmacodynamics
2026

Perinatal Management of Andersen-Tawil Syndrome Using a Wearable Cardioverter-Defibrillator: A Case Report.

The journal of obstetrics and gynaecology research
2026

Major Adverse Cardiac Events with Ondansetron: A Systematic Review.

Clinical pharmacology and therapeutics
2026

A tailored approach to cardioneuroablation for reflex syncope and functional bradycardia: results from the ELEGANCE multicentre 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 Cardiology
2025

COVID-19-induced Brugada phenocopy pattern in a patient with previous myocardial infarction: A case report.

Medicine
2026

Deep Learning-Based Continuous QT Monitoring to Identify High-Risk Prolongation Events After Class III Antiarrhythmic Initiation.

Circulation
2026

Novel systemic vasculo-cardiac syndrome following nuvaring initiation: Persistent tachycardia, raynaud-like episodes, and elevated D-dimer.

Contraception
2026

SPARC: a structural pathogenicity algorithm for risk classification of hERG variants.

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
2025

Severe tachycardia induced by dopamine in an elderly patient with renal insufficiency: A case report and literature review.

Medicine
2025

Left ventricular hypertrabeculation is a novel predictor of life-threatening arrhythmic events in long QT syndrome patients.

Orphanet journal of rare diseases
2026

Right bundle-branch block (RBBB) and acute coronary syndrome (ACS) a narrative review.

The American journal of emergency medicine
2025

Innate immune activation and mitochondrial ROS induce acute and persistent cardiac conduction system dysfunction after COVID-19.

JCI insight
2026

Risk of QTc prolongation, and major cardiovascular adverse events associated with CDK4/6 inhibitors in hormone receptor-positive HER2-negative breast cancer - A systematic review and meta-analysis.

Cancer treatment reviews
2026

Pearls and Pitfalls: Severe Bradycardia.

The Journal of emergency medicine
2025

Impact of physical activity on presentation and prognosis of Brugada syndrome.

Open heart
2025

A man in his 30s with cardiac arrest.

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke
2026

Analysis of Diagnostic Clues in a Rare Case of Ventricular Preexcitation Masking Occlusive Myocardial Infarction of the Left Anterior Descending Artery.

Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc
2026

Electrophysiological Characteristics of Coronary Sinus Activation Sequence Alteration During Left Lateral AP Ablation.

Pacing and clinical electrophysiology : PACE
2026

Ablation of Atrial Tachycardia in a Budd-Chiari Syndrome Patient via Inferior Vena Cava-Azygos-Superior Vena Cava Approach.

Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc
2025

[Expert consensus on the monitoring and risk assessment of QT interval prolongation].

Zhonghua xin xue guan bing za zhi
2026

Young people's experience of predictive genetic testing for inherited cardiac conditions: a qualitative study.

European journal of human genetics : EJHG
2026

Platform Assessment of Concentration-QTc Relationship Across GalNAc-siRNA Molecules.

Clinical pharmacokinetics
2025

Second-generation antipsychotics - Cardiac ion channel modulation and QT interval disturbances: A review.

Biomolecules &amp; biomedicine
2025

ECG artefact or life-threatening arrhythmia? A neonatal presentation of Long QT syndrome type 3 with a de novo SCN5A mutation.

Cardiology in the young
2025

QTc Interval and Its Associated Factors in Patient With Type 2 Diabetic Mellites.

Journal of diabetes research
2025

Platelet-bioengineered hiPSC-sEVs achieve targeted repair of fibrotic sinoatrial node in preclinical SND models.

Nature communications
2025

Severe cardiac valvular calcification in two Chinese brothers with mandibuloacral dysplasia type A: a case report.

Frontiers in cardiovascular medicine
2026

ECG Markers of Positive Drug Challenge With Ajmaline in Patients With Brugada Syndrome.

Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc
2026

Clinical study on the application of two-dimensional speckle tracking imaging to evaluate the atrial synchrony of Bachmann's bundle pacing in patients with sick sinus syndrome.

Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing
2025

PITX2 dosage-dependent changes in pacemaker cell state underlie sinus node dysfunction and atrial arrhythmias.

Nature communications
2026

Safety, Utility, and Outcomes of Procainamide Challenge for the Diagnosis and Exclusion of Brugada Syndrome.

Circulation
2026

Mapping cardiac innervation in the long QT syndrome type 1 transgenic mouse model using whole heart imaging.

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology
2025

Holter Monitor QT Dispersion and QTc-Dispersion in Pediatric Long QT Syndrome and Development of a Diagnostic and Arrhythmia Risk Prediction Model.

Journal of the American Heart Association
2025

Fetal Bradycardia Prompting the Diagnosis and Management of Parental Long QT Syndrome.

Circulation. Arrhythmia and electrophysiology
2025

Oxaliplatin and amlodipine combination induced reversible Brugada phenocopy: A case report.

Medicine
2025

Phenotypes in Brugada syndrome with different genotypes triggered by fever or inflammation using gene-edited iPSCs.

Stem cell research &amp; therapy
2025

Successful left lateral AP ablation with transseptal puncture in a patient with situs inversus totalis and dextrocardia.

Cardiology in the young
2025

Volume Loading May Compromise Left Ventricular Filling in Patients with a Borderline Hypoplastic Left Ventricle.

International heart journal
2026

Prevalence, spectrum, and outcomes in patients with nonpenetrant long QT syndrome.

Heart rhythm
2025

N-palmitoyl glycine differentially modulates TRPM4 and TRPC5 and is causally linked to Brugada syndrome.

Communications biology
2025

Generation of a homozygous and heterozygous iPSC line carrying a variant of uncertain significance in CACNA1C, associated with Brugada syndrome.

Stem cell research
2026

Large-scale functional assessment of variants of the potassium channel Kir2.1: Clinical and comparative insights.

The Journal of biological chemistry
2025

Acupuncture combined with modified Zhi Gan Cao decoction in the treatment of frequent premature ventricular contractions.

Medicine
2025

Prolonged Corrected QT Interval Is Associated with Lower Incidence of Maternal Hypotension During Spinal Anesthesia in Cesarean Delivery: A Prospective Observational Study.

Medicina (Kaunas, Lithuania)
2025

Calmodulin D133H Disrupts Cav1.2 and Kv7.1 Regulation to Prolong Cardiac Action Potentials in Long QT Syndrome.

Cells
2026

A Phenotype-Enhanced Variant Classification Framework to Decrease the Burden of Variants of Uncertain Significance in Type 2 Long QT Syndrome.

JACC. Clinical electrophysiology
2026

Reduced Incidence of QTc Prolongation Following Metabolic and Bariatric Surgery in Female Patients: A Retrospective Cohort Study.

Obesity surgery
2025

Approach to prolonged QT interval in paediatric and neonatal patients.

European journal of pediatrics
2026

Pediatric and Familial Genetic Arrhythmia Syndromes: Evaluation of Bidirectional Ventricular Tachycardia-Differential Diagnosis.

Heart failure clinics
2025

Biphasic effects on human atrial arrhythmogenicity of L-type calcium channel mutations associated with a Brugada/Short QT overlap syndrome - insights from a multiscale simulation study.

PLoS computational biology
2025

Concentration-QTc Analysis of Valemetostat in Patients With Hematologic Malignancies.

Clinical and translational science
2025

Cone repair and right ventricular resection in an adult patient with Ebstein's anomaly.

Multimedia manual of cardiothoracic surgery : MMCTS
2025

QT interval prolongation in acute antipsychotic poisoning: systematic review and recommendations.

Clinical toxicology (Philadelphia, Pa.)
2025

Comparison of Valvular and Ventricular Function After Right Ventricular, Leadless, Deep Septal, and Left Bundle Branch Area Pacemakers.

Pacing and clinical electrophysiology : PACE
2025

KCNH2-L693P Causes Long QT Syndrome Type 2 Through hERG Channel Dysfunction: Functional Validation of a Variant of Uncertain Significance.

Molecular genetics &amp; genomic medicine
2026

Time to Benefit of Epicardial Ablation in Malignant Forms of Brugada Syndrome: A Reconstructed Individual Patient Data Meta-Analysis.

Journal of cardiovascular electrophysiology
2026

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

Heart rhythm
2025

Disrupted binding dynamics of the CaMD130G mutant to Cav1.2 channels: Implications for long QT syndrome pathogenesis.

European journal of pharmacology
2025

A case of congenital long QT syndrome and medically induced menopause.

Post reproductive health
2025

ECG Changes Associated With Antipsychotic Use: A Case Vignette From the Emergency Department.

Advanced emergency nursing journal
2026

Anterior ST Elevation Post-WPW Ablation: A Case of Long-Term Electrotonic Modulation.

Pacing and clinical electrophysiology : PACE
2026

Drug-Induced QT Prolongation: Associations Between Risk Classifications in a Swedish Clinical Decision Support System and Clinical Outcomes.

Clinical pharmacology and therapeutics
2025

Familial risk of Wolff-Parkinson-White syndrome: a nationwide family study in Sweden.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
2025

Calmodulinopathies: 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 Cardiology
2025

Cardiac Channelopathies in the Pediatric Patient: Brugada Syndrome.

Cardiac electrophysiology clinics
2025

Cardiac Channelopathies in the Pediatric Patient: The Ryanodine Receptor Related Inherited Cardiac Syndromes.

Cardiac electrophysiology clinics
2025

Cardiac Channelopathies in the Pediatric Patient: Long QT Syndrome.

Cardiac electrophysiology clinics
2025

Arrhythmias in Congenital Heart Disease: Heterotaxy Syndrome.

Cardiac electrophysiology clinics
2025

A case report of sinus node-sparing hybrid ablation for refractory sinus tachycardia following cardioneuroablation for sinus node dysfunction.

BMC cardiovascular disorders
2025

QT interval prolongation: clinical assessment, risk factors and quantitative pharmacological considerations.

Journal of pharmacokinetics and pharmacodynamics
2025

Functional Profiling of KCNE1 Variants Informs Population Carrier Frequency of Jervell and Lange-Nielsen Syndrome Type 2.

Circulation. Genomic and precision medicine
2026

Optimizing 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 anaesthesia
2025

Accuracy of Left Bundle Branch Block Chronology and Electrocardiography Criteria for Acute Myocardial Infarction Diagnosis: A Systematic Review and Meta-analysis.

Arquivos brasileiros de cardiologia
2025

Polyneuropathy in Wild-Type Transthyretin Amyloidosis.

European journal of neurology
2025

Sepsis related Brugada syndrome in community acquired pneumonia due to Legionella pneumophila: a case report.

BMC pulmonary medicine
2025

Socioeconomic Status, Race, and Ethnicity in Management of Pediatric Supraventricular Tachycardia.

Journal of the American Heart Association
2025

Wolff-Parkinson-White syndrome: a masquerading clinical condition in an 8-year-old Nigerian girl.

BMC cardiovascular disorders
2025

MEPPC Syndrome: A Systematic Review and State-of-the-Art Paper.

Circulation. Arrhythmia and electrophysiology
2025

CRYAB Missense Mutation Reveals Shared Pathogenesis of Familial Cardiomyopathy and Arrhythmia.

Genes
2026

Assessing the Cardiac Safety of a Multimodal Protocol for 'Tranq Dope' Withdrawal: A Retrospective QTc Analysis.

The American journal of emergency medicine
2025

Molecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange-Nielsen syndrome.

Channels (Austin, Tex.)
2026

Corrected QT Intervals in the Pediatric Emergency Department: Don't Be Misled.

Pediatric emergency care
2025

Beta-blocker prescription adherence of children and young people with long QT syndrome: a retrospective cohort study.

Cardiology in the young
2025

[Research progress on cardiac L-type calcium channel mutations in Brugada syndrome and early repolarization syndrome].

Zhonghua xin xue guan bing za zhi
2025

Ventricular Tachycardia Due to Blanking of a Premature Ventricular Contraction.

Pacing and clinical electrophysiology : PACE
2025

QTc prolongation and torsades de pointes (TdP) in individuals undergoing methadone maintenance treatment (MMT): A systematic review and meta-analysis.

Medicine
2025

Dual-Patch Technique with Ventricular Septal Defect Closure for Straddling Chordae.

Interdisciplinary cardiovascular and thoracic surgery
2025

When the U Wave Tells the Story: Andersen-Tawil Syndrome Unmasked.

Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc
2026

Evaluation of clinical cardiac safety of zilurgisertib, an activin receptor-like kinase-2 (ALK2) inhibitor, in healthy participants.

Clinical pharmacology in drug development
2025

Epigenetic regulation of electromechanical continuity might determine phenotypic heterogeneity in SCN5A mutation carriers in Brugada syndrome.

Scientific reports
2025

QT prolongation and excessive variability predicts new-onset atrial fibrillation in the health screening data of Japanese adults.

PloS one
2026

Effect of a patient-specific QTc alert on decreasing prescribing of QTc-prolonging medications in outpatients.

American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists
2025

Rapid recovery after four months of near-tetraplegia: A case report of pan-neurofascin nodopathy and a brief review of emerging questions.

Clinical neurophysiology practice
2025

Characterization of a Splice-Altering Variant in SCN5A Associated With Brugada Syndrome - Insights Into Splice Error Correction.

Circulation journal : official journal of the Japanese Circulation Society
2026

Concentration-QTc Modeling to Support Clinical Development of Fezolinetant.

Clinical pharmacology in drug development
2025

Implantable 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 Cardiology
2025

Associations between exposure to air pollutants and QT interval change: A comprehensive systematic review.

Environmental research
2025

Application of the QT nomogram to ECG monitoring of QT prolongation in arsenic trioxide for acute promyelocytic myeloid leukaemia.

Leukemia &amp; lymphoma
2025

Multiple anthropometric characteristics and Brugada syndrome: A Mendelian randomization study.

Medicine
2026

Choroidal neovascularization in a teenager with Kearns Sayre syndrome.

Ophthalmic genetics
2025

SUMOylation and an ATS1 variant converge to disrupt PIP2-dependent gating of Kir2.1.

The Journal of general physiology
2025

Assessment of QT Interval Prolongation Using Concentration-QT Modeling for Iptacopan, an Oral Complement Factor B Inhibitor, in Healthy Individuals.

Clinical and translational science
2025

No Evidence of QTc Interval Prolongation With Baxdrostat Treatment: Concentration-QTc Modeling Assessment.

Pharmacology research &amp; perspectives
2026

Prospective National Audit of the Anesthetic Management of Children With Long QT Syndrome.

Paediatric anaesthesia
2025

Cardiac transplant outcomes in a pediatric patient with novel homozygous variants in TOP3Α causing mitochondrial dysfunction.

Molecular genetics and metabolism
2025

[Wrist-ankle acupuncture for functional frequent premature ventricular contractions: a randomized controlled trial].

Zhongguo zhen jiu = Chinese acupuncture &amp; moxibustion
2025

Generation of human induced pluripotent stem cell lines from a fetus with congenital long QT syndrome and her healthy parents.

Stem cell research
2025

Interatrial Block Detected by a Series of ECGs Before and During Acute Coronary Syndrome Predicts Atrial Fibrillation, Atrial Flutter, and Ischemic Stroke.

Journal of the American Heart Association
2025

Novel presentation of CACNA1C variant as neonatal complete atrioventricular block, heart failure and non-compaction cardiomyopathy with oligogenic influences.

Journal of electrocardiology
2025

Novel Loss-of-Function Variant, Cys1384Phe, in SCN5A Is Associated With an Overlapping Phenotype of Brugada Syndrome, Sick Sinus Syndrome, and Dilated Cardiomyopathy.

Circulation journal : official journal of the Japanese Circulation Society
2025

Epicardial pacemaker implantation in a young cat with sick sinus syndrome.

Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology
2025

Pan-immune-inflammation value predicts sustained ventricular arrhythmias in NSTEMI: a novel inflammatory risk marker.

Acta clinica Belgica
2026

ROS-induced degradation of hERG potassium channels contributes to aripiprazole-induced prolongation of the QTc interval.

Acta pharmacologica Sinica
2025

Idiopathic right ventricular outflow tract ventricular tachycardia-induced cardiomyopathy masquerading as MIS-C-associated myocarditis in a child.

BMJ case reports
2025

A MATLAB Algorithm to Automatically Estimate the QT Interval and Other ECG Parameters and Validation Using a Machine Learning Approach in Congenital Long-QT Syndrome.

Journal of cardiovascular translational research
2025

High-throughput screens identify genotype-specific therapeutics for channelopathies.

JCI insight
2025

Software-based analysis of T-wave morphology: identifying the electrocardiogram signature of high-risk long QT syndrome.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
2025

Distinct 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 Cardiology
2025

Delayed QT prolongation and electrical storm following cardioversion.

Journal of electrocardiology
2025

Spectrum of genetic variants detected in children tested for long QT syndrome.

BMC cardiovascular disorders
2025

Intermittent fixed preexcitation: What is the mechanism?

Journal of electrocardiology
2025

Optimization strategy for modeling sick sinus syndrome in rats: Balancing effect and animal care.

Journal of pharmacological and toxicological methods
2025

Assessment of pharmacist-driven QT interval prolongation in cardiac patients: Application of Framingham's heart rate corrected QT interval formula and the Tisdale risk score.

Pakistan journal of pharmaceutical sciences
2025

Nutritional Factors and Arrhythmic Risk in Long QT Syndrome: A Narrative Review of Mechanistic and Clinical Evidence.

Advances in nutrition (Bethesda, Md.)
2025

Seizure-Syncope: Clinical implications from two Chinese CPVT children with two novel RYR2 variants.

Gene
2025

Left bundle branch area pacing in patients requiring permanent pacemaker implantation after transcatheter aortic valve replacement.

Kardiologia polska
2025

Gerbode defect resulting from ineffective treatment of infective endocarditis: a case report.

Cardiovascular ultrasound
2025

Left bundle branch block on flecainide in Wolff-Parkinson-white syndrome.

Journal of electrocardiology
2025

Cannabis-Induced Cardiac Arrest in a Young Adult: A Case Report.

The American journal of case reports
2026

Impact of high-grade atrioventricular block on outcomes in patients with acute myocardial infarction.

European heart journal. Acute cardiovascular care
2025

Ventricular preexcitation in hypertrophic cardiomyopathy: Coincidence, clue, or concern?

Journal of electrocardiology
2025

Impact of prolonged and short QT intervals on immediate risks of newly diagnosed arrhythmias and mortality: A retrospective study.

Medicine
2026

Nanomachine-Based Flexible Bubbles for Alleviating Long QT Syndrome.

Advanced healthcare materials
2025

Asymptomatic Complete Heart Block in an Adult with Down's Syndrome and Structurally Normal Heart: A Rare Association.

Annals of African medicine
2025

Autoimmune antibodies in arrhythmia: a narrative review of potential therapeutic targets to prevent overtreatment.

Cardiovascular diagnosis and therapy
2025

Is anaemia associated with QTc prolongation? A retrospective cross-sectional analysis from a rural population-based cohort.

BMJ open
2025

Generation of three induced pluripotent stem cell lines from a long QT syndrome type 2 family harboring the pathogenic KCNH2 c.209A > G (p.His70Arg) variant.

Stem cell research

Associações

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Doenças relacionadas

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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.

  1. Clinical profile and prognosis of brugada syndrome SCN5A variant carriers with negative sodium channel blocker challenge.
    Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology· 2026· PMID 41812135mais citado
  2. QT Myopia and Cardiac Safety: Expanding the Aperture of Arrhythmia Assessment in Early Phase Drug Development.
    Clinical and translational science· 2026· PMID 41807277mais citado
  3. Characterization of an induced pluripotent stem cell line from a long QT syndrome type 1 patient possessing the KCNQ1 c.691C&#xa0;&gt;&#xa0;T (p.Arg231Cys) variant.
    Stem cell research· 2026· PMID 41802374mais citado
  4. A Phase I Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Fenebrutinib and Effect on the QT/QTc Interval in Healthy Participants.
    Clinical and translational science· 2026· PMID 41781339mais citado
  5. Silencing the Mutant KCNH2 Allele to Reduce the Effects of Long QT Syndrome Type 2.
    Frontiers in bioscience (Landmark edition)· 2026· PMID 41761963mais citado
  6. One ECG with 2 Rare Findings: Wellens Syndrome With Prolonged QT Interval in Acute Myocardial Infarction Due to LAD Occlusion.
    Am J Case Rep· 2026· PMID 41579394recente
  7. Novel systemic vasculo-cardiac syndrome following nuvaring initiation: Persistent tachycardia, raynaud-like episodes, and elevated D-dimer.
    Contraception· 2026· PMID 41443361recente
  8. MEPPC Syndrome: A Systematic Review and State-of-the-Art Paper.
    Circ Arrhythm Electrophysiol· 2025· PMID 41159261recente
  9. [BRASH syndrome: the vicious cycle of bradycardia, hyperkalemia and renal failure].
    Ned Tijdschr Geneeskd· 2025· PMID 40905190recente
  10. A Typical ECG Presentation and Intracardiac Mapping of Bayes Syndrome.
    Am J Cardiol· 2025· PMID 40254232recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:329332(Orphanet)
  2. OMIM OMIM:614407(OMIM)
  3. MONDO:0013735(MONDO)
  4. GARD:17502(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Q55784320(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Compêndio · Raras BR

Síndrome de microcefalia-hipoplasia cerebelosa-defeito cardíaco de condução

ORPHA:329332 · MONDO:0013735
Prevalência
<1 / 1 000 000
Casos
4 casos conhecidos
Herança
Autosomal recessive
CID-10
Q87.8 · Outras síndromes com malformações congênitas especificadas, não classificadas em outra parte
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C3280692
Wikidata
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