A Síndrome de Braquidactilia e Hipertensão Arterial é uma condição genética rara que se caracteriza pela associação de braquidactilia (dedos curtos), do tipo E, com pressão alta (hipertensão arterial). A pressão alta ocorre devido a problemas nos vasos sanguíneos ou nos nervos ligados a eles. Outras características incluem baixa estatura, baixo peso ao nascer (em comparação com familiares que não são afetados), uma constituição física robusta e um rosto arredondado. A pressão alta costuma aparecer na infância e, se não for tratada, a maioria dos pacientes terá tido um AVC (derrame cerebral) antes dos 50 anos de idade.
Introdução
O que você precisa saber de cara
A Síndrome de Braquidactilia e Hipertensão Arterial é uma condição genética rara que se caracteriza pela associação de braquidactilia (dedos curtos), do tipo E, com pressão alta (hipertensão arterial). A pressão alta ocorre devido a problemas nos vasos sanguíneos ou nos nervos ligados a eles. Outras características incluem baixa estatura, baixo peso ao nascer (em comparação com familiares que não são afetados), uma constituição física robusta e um rosto arredondado. A pressão alta costuma aparecer na infância e, se não for tratada, a maioria dos pacientes terá tido um AVC (derrame cerebral) antes dos 50 anos de idade.
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
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 8 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
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
Cyclic nucleotide phosphodiesterase with specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (PubMed:1315035, PubMed:25961942, PubMed:8155697, PubMed:8695850). Also has activity toward cUMP (PubMed:27975297). Independently of its catalytic activity it is part of an E2/17beta-estradiol-induced pro-apoptotic signaling pathway. E2 stabilizes the PDE3A/SLFN12 complex in the cytosol, promoting the dephosphorylation of SLFN12 and acti
MembraneCytoplasm, cytosol
Hypertension and brachydactyly syndrome
A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, and altered baroreflex blood pressure regulation. It results in death from stroke before age 50 years when untreated. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals.
Variantes genéticas (ClinVar)
60 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 29 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
1 via biológica associada aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de braquidactilia-hipertensão arterial
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
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Radiographics : a review publication of the Radiological Society of North America, IncDistinct Risk Profiles in Posterior vs Anterior Circulation Strokes: A Prospective Study from Western India.
The Journal of the Association of Physicians of IndiaRole of β-Blockers Across the Cardiovascular Continuum: A Real-World Perception Survey (ROBUST).
The Journal of the Association of Physicians of IndiaMachine Learning-Based Risk Prediction Models for Pregnancy-Related Syndromes.
Birth defects researchAgeing with Haemophilia: Comorbidities in Focus.
Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und ImmunhamatologiecAMP/PKA signaling in endocrine hypertension: genetic mechanisms and pathophysiological insights.
Frontiers in endocrinologyA randomized control trial comparing the clinical outcome of thyroxine supplementation in thyroid peroxide antibody- negative cases in patients with subclinical hypothyroidism in pregnancy.
Journal of family medicine and primary careDiagnosis and management of mirror syndrome: a case series with emphasis on the potential role of the sFLT-1/PlGF ratio in clinical practice.
Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e ObstetriciaSotatercept in Patients With Eisenmenger Syndrome.
Pulmonary circulationHidden Cardiovascular Risk: Early Menopause Triggering Acute Coronary Syndrome (ACS) in Young Patients.
CureusThe association between breastfeeding and prevalence of metabolic syndrome in women with a previous major pregnancy complication.
Frontiers in global women's healthCausal relationship between metabolic syndrome and gastric cancer: insights from comprehensive analysis and biomarker identification.
Translational cancer research[Study on mechanism of Jiedu Huxin Formula protecting against heart failure caused by hypertension by regulating TGF-β1/p38 MAPK/NF-κB pathway based on network pharmacology and experimental validation].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medicaThe effect of gestational diabetes on maternal and neonatal outcomes.
Taiwanese journal of obstetrics & gynecologyPulmonary hypertension associated with nonparenchymal restrictive lung diseases.
European respiratory review : an official journal of the European Respiratory SocietyEffects of Metabolic Syndrome on Cardiovascular Outcomes in Non-Obese Heart Failure Patients.
ESC heart failureThe impact of metabolic syndrome on regional ventilation and perfusion in ARDS: an observational cohort study using electrical impedance tomography.
Intensive care medicine experimentalFactors predicting the outcome of patients admitted with COVID-19 infection at Pietersburg Hospital, Polokwane, Limpopo province.
Southern African journal of infectious diseasesSex-Specific Cardiometabolic Phenotypes of Metabolic Syndrome Identified by Latent Class Analysis in Indian Adults.
International journal of applied & basic medical researchRisk factor analysis for septic shock in female patients after mini-percutaneous nephrolithotripsy.
Translational andrology and urologyThrombaxane-B2 as a predictor marker of atrial fibrillation.
International journal of cardiology. Cardiovascular risk and preventionThe epidemiology of cubital tunnel syndrome: a UK Biobank case-control study.
The Journal of hand surgery, European volumeUnrepaired Truncus Arteriosus Type 1 With Eisenmenger Syndrome and Recurrent Embolic Strokes: An Adult Case Report.
The American journal of case reportsPhenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients.
Orphanet journal of rare diseasesAre there disparities in cerebral sinus venous thrombosis between the Arab and Jewish populations in Israel - a multicenter cohort study?
Journal of the neurological sciencesBridging Population Patterns and Individual Prediction: Framework for Prospective Multimorbidity Study.
JMIR medical informaticsChronic Inflammation as an Overlooked Link Between Cardiovascular and Kidney Disease: A Focus on Interleukin-6 and C-Reactive Protein.
Clinical journal of the American Society of Nephrology : CJASN[Diagnosis and treatment of Budd-Chiari syndrome (literature review)].
Angiologiia i sosudistaia khirurgiia = Angiology and vascular surgeryLinezolid-induced Posterior Reversible Encephalopathy Syndrome: A Case Report and Review of the Literature.
Clinical neuropharmacologyWhen Back Pain Is Cardiac: Spontaneous Coronary Artery Dissection in a Male Patient.
CureusA Multicentre Survey of Paediatric Critical Care Nurses' Awareness, Knowledge and Practice of Intra-Abdominal Hypertension and Abdominal Compartment Syndrome.
Nursing in critical careRenal artery stenosis in heart failure: the overlooked cardiorenal culprit?
European journal of heart failureMapping dementia research in Indonesia: A scoping review of evidence, gaps, and future directions.
PLOS global public healthRisk stratification for adult patients with pulmonary arterial hypertension associated with congenital heart disease. A scientific statement of the ESC Working Group on Pulmonary Circulation & Right Ventricular Function, the ESC Working Group on Adult Congenital Heart Disease, and the Association of Cardiovascular Nursing & Allied Professions of the ESC.
European journal of heart failurePulmonary Artery Denervation for Refractory Sjögren's Syndrome-Associated Pulmonary Arterial Hypertension: A Case Report of Combined Hemodynamic and Renal Recovery.
Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & InterventionsObesity indices as predictors of metabolic syndrome: 1-year findings from a Peruvian cohort of private educational institution workers.
Therapeutic advances in endocrinology and metabolismHeart failure associated with renal artery stenosis and Pickering syndrome: the critical role of endovascular revascularization: a case series and meta-analysis.
Clinical hypertensionHeterozygous X-linked Alport syndrome in a pregnant woman: A case report.
SAGE open medical case reportsCase report: Hemodynamic dynamics in central variant PRES via serial ASL/DTI.
Neuroimage. ReportsPeripheral arterial lesions detected by vascular ultrasound and their association with aortic events in heritable thoracic aortic diseases.
International journal of cardiology. Heart & vasculatureCurrent Trends and Future Perspectives of Bradycardia, Renal Failure, Atrioventricular Nodal Blockade, Shock, and Hyperkalemia (BRASH) Syndrome: A Narrative Review.
CureusHerpes Simplex Virus Encephalitis With Cerebellar Infarction and Cortical Laminar Necrosis.
CureusAbdominal Compartment Syndrome Following Massive Transfusion in Upper Gastrointestinal Bleeding: A Case Report.
CureusA Case of Posterior Reversible Encephalopathy Syndrome With Single-Agent Weekly Paclitaxel.
CureusCardiac Complications in Systemic Lupus Erythematosus: A Systematic Review of Diagnostic and Prognostic Gaps.
CureusUsing Orbital Atherectomy in ST-Elevation Myocardial Infarction: A Case Report From a Nonsurgical Centre.
Case reports in cardiologySuccessful prosthetic graft replacement for middle aortic syndrome in a 9-year-old child.
Cardiology in the youngDo different organ involvements cause different comorbidity profiles in Behçet's syndrome?
Postgraduate medicineBMPR2 Splice-Site Variant in a Patient With Pulmonary Arteriovenous Malformation and Delayed-Onset Pulmonary Arterial Hypertension: A Case Report and Mechanistic Phenocopy Hypothesis.
American journal of medical genetics. Part AAssociation between the oxidative balance score and depressive symptoms in adults with metabolic syndrome: a cross-sectional study from NHANES.
BMC psychiatryIntegrated metabolomics and metagenomics analysis identifies a unique signature characterizing metabolic syndrome.
The Journal of nutritional biochemistrySimultaneous Ureteral Ligation at the Time of Pediatric Kidney Transplantation: A Technical Report.
Pediatric transplantationTreatment-resistant arterial hypertension revealing giant cell arteritis: A case report.
The American journal of medicineMonogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study.
Clinical journal of the American Society of Nephrology : CJASNMetabolic syndrome and venous thromboembolism: the role of abdominal obesity and sex differences.
Journal of thrombosis and thrombolysis[Postthrombotic syndrome: an update].
Dermatologie (Heidelberg, Germany)Epidemiology and Clinical Characteristics of Fatty Pancreas Disease in Metabolic Dysfunction-Associated Steatotic Liver Disease: A Systematic Review.
Journal of gastroenterology and hepatologyDecoding lung-kidney interactions in sepsis: an integrated view of molecular mechanisms, pathophysiology, and therapeutic interventions.
Frontiers in immunologyMulti-dimensional evidence establishing the causal association between metabolic syndrome and gout and the molecular mechanisms of comorbidity.
Frontiers in immunologyGlycaemic Variability and Its Outcome in Intensive Care Unit Patients with Sepsis.
Journal of the West African College of SurgeonsHypercapnia as a Key Mechanism in the Development of Pulmonary Hypertension in Malignant Pertussis: A Case Report.
Respirology case reportsEmerging roles of spexin in cardiovascular homeostasis.
Frontiers in cardiovascular medicineRapid Treatment With Veno-Venous Extracorporeal Membrane Oxygenation in a Patient Who Developed Acute Respiratory Distress Syndrome After Drowning.
CureusA Presumed Dysphagia Aortica in a Siamese Cat.
Veterinary radiology & ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology AssociationPrognostic scores for early mortality following transjugular intrahepatic portosystemic shunt insertion: external validation in a contemporary Australian cohort.
Internal medicine journalDiagnostic Implications of the Endocrine Society and American Academy of Pediatrics Guidelines on blood pressure: associations with sex, blood pressure components, and metabolic syndrome in Korean Adolescents.
Annals of pediatric endocrinology & metabolismPlatypnea-orthodeoxia syndrome treated by percutaneous patent foramen ovale closure: a case report and review of the literature.
Journal of medical case reportsTemporary tracheotomy in transoral robotic surgery (TORS): from a retrospective single-center analysis to a proposal of a decision-making algorithm.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryDeveloping and Validating the CE-MACE Model to Predict One-Year Major Adverse Cardiovascular Events Post COPD Exacerbation Using Routine Healthcare Data.
The European respiratory journalThe Clinical Spectrum and Management of Ectopic Cushing's Syndrome: A 12-Year Single-Center Experience.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association[Screening for albuminuria to assess cardiovascular risk].
Revue medicale suisseFrom post-infectious glomerulonephritis to complement-mediated aHUS: a diagnostic challenge.
Pediatric nephrology (Berlin, Germany)Cardiovascular risk profiles in patients with primary sclerosing cholangitis.
European journal of gastroenterology & hepatologyCoexistence of hepatopulmonary syndrome and portopulmonary hypertension before a liver transplantation: a case report and review of the literature.
European journal of gastroenterology & hepatologyHematologic disorders in pregnancy: the role of the complement system.
Expert review of hematologyMechanisms Linking Sleep-Disordered Breathing and Cardiometabolic Disease Risk.
Arteriosclerosis, thrombosis, and vascular biologyDaratumumab for Treatment of Refractory Podocytopathy: A Case Report.
Kidney medicineRoutine Blood and Cerebrospinal Fluid Markers in Newly Diagnosed Idiopathic Intracranial Hypertension: An Exploratory Case-Control Study.
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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.
- Case Report: A classical PSGN case with unusually prominent serosal manifestations and complement patterns that mimicked systemic autoimmune disease-highlighting diagnostic pitfalls and biopsy decision-making.
- Adjuvant camrelizumab for hepatocellular carcinoma patients with high risk of recurrence after curative hepatectomy: a retrospective multicenter study.
- Neonatal hypoxic-ischemic encephalopathy online registry in Shenzhen: protocol for a multicentre, prospective, open, observational cohort study.
- Long-term relief of CRPS-associated limb dystonia with ketamine infusion.
- Mycophenolate mofetil versus prednisone for the initial treatment of idiopathic steroid-sensitive nephrotic syndrome in children in Germany (INTENT): a multicentre, open-label, randomised, controlled, parallel-group, non-inferiority, phase 3 trial.
- Decoding Monogenic Hypertension: A Review of Rare Hypertension Disorders.
- Personal Genetic-Hypertension Odyssey From Phenotypes to Genotypes and Targets.
- Reversal of cardiac and renal damage in a teenager with hypertension: A case report.
- Mutations in Phosphodiesterase 3A (PDE3A) Cause Hypertension Without Cardiac Damage.
- Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1276(Orphanet)
- OMIM OMIM:112410(OMIM)
- MONDO:0007211(MONDO)
- GARD:967(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q30314087(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