Aconselhamento genético é uma ação de saúde realizada por um profissional de saúde especializado em genética após o diagnóstico clínico de uma determinada patologia do ponto de vista genético.
Introdução
O que você precisa saber de cara
Síndrome rara autossômica recessiva associada a mutações no gene TMEM260. Apresenta defeitos cardíacos estruturais (ex: arco aórtico interrompido, atresia tricúspide, CIV) e anomalias renais (insuficiência renal, creatinina elevada).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
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 25 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 recessive.
O-mannosyl-transferase that transfers mannosyl residues to the hydroxyl group of serine or threonine residues of proteins (PubMed:37186866). Specifically glycosylates the IPT/TIG domain of target proteins, such as MET and MST1R/RON (PubMed:37186866). TMEM260-mediated O-mannosylated residues are composed of single mannose glycans that are not elongated or modified (PubMed:37186866)
Endoplasmic reticulum membraneMembrane
Structural heart defects and renal anomalies syndrome
An autosomal recessive syndrome characterized by central nervous system, cardiac, renal, and digit abnormalities. Clinical features include ventricular and atrial septal defects, truncus arteriosus, tetralogy of Fallot, partial anomalous pulmonary venous return, renal cysts, renal failure, and generalized edema. Some patients show partial agenesis of corpus callosum.
Variantes genéticas (ClinVar)
56 variantes patogênicas registradas no ClinVar.
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 defeitos cardíacos estruturais-anomalias renais
Centros de Referência SUS
24 centros habilitados pelo SUS para Síndrome de defeitos cardíacos estruturais-anomalias renais
Centros para Síndrome de defeitos cardíacos estruturais-anomalias renais
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Disturbed mitochondrial maturation in cardiolipin remodeling-deficient cardiomyocytes.
Barth syndrome, a rare X-linked genetic disorder, features early-onset cardiomyopathy. The causal gene, TAFAZZIN, encodes a transacylase that mediates the acyl chain remodeling of cardiolipin, a critical phospholipid in the inner mitochondrial membrane. While Barth syndrome exhibits hallmark cardiolipin abnormalities, the precise mechanisms linking TAFAZZIN deficiency and disturbed cardiolipin metabolism to progressive cardiac dysfunction remain unclear. In this study, we modeled Barth syndrome cardiomyopathy in human induced pluripotent stem cell-derived cardiomyocytes with in vitro maturation treatments that simulate heart developmental stimuli. We found that cardiomyocyte maturation involves progressive cristae dynamics associated with protein and lipid alterations in the inner mitochondrial membrane. TAFAZZIN-deficient cardiomyocytes fail to adapt to the developmental stimuli, resulting in damaged cristae, compromised mitochondrial respiration, and cardiomyocyte dysfunction. These results demonstrate that TAFAZZIN deficiency perturbs functional and structural development of mitochondria, which may contribute to mitochondrial dysfunction and associated childhood progression to cardiomyopathy in Barth syndrome.
Application of Prenatal Whole Exome Sequencing for Congenital Heart Anomalies.
Congenital heart disease (CHD) is the most common congenital anomaly worldwide and poses significant diagnostic challenges due to its structural complexity and frequent association with extracardiac anomalies and genetic abnormalities. While conventional tests such as karyotyping, quantitative fluorescent polymerase chain reaction (QF-PCR), and chromosomal microarray analysis (CMA) are standard first-tier investigations, many cases remain genetically unexplained. Prenatal whole exome sequencing (WES) has emerged as a valuable tool to detect pathogenic single gene variants underlying CHD. This narrative review synthesizes findings from 28 studies involving over 2000 WES-tested fetuses and more than 10,000 CHD cases. The additional diagnostic yield of WES over CMA ranged from 8.0% to 66.7%, with higher yields in syndromic or non-isolated CHD (10-50%) compared to isolated cases (7.1-27.8%). Trio-based WES outperformed proband-only sequencing by improving accuracy, reducing turnaround time, and lowering the rate of variant of uncertain significance (VUS). Prenatal WES not only clarifies genetic etiology but also reveals syndromic diagnoses, allowing CHD to be interpreted within broader multisystem contexts. Integration of phenotypic and genomic data enhances prenatal counseling, prognostication, delivery planning, and postnatal care-advancing precision medicine in fetal cardiology.
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
SF3B1 is an essential and ubiquitous splicing factor that plays a pivotal role in the early steps of pre-mRNA splicing. Recurrent somatic missense mutations in SF3B1 are frequent in cancers, but no constitutional variant has been reported so far. We describe here a cohort of 26 individuals with neurodevelopmental disorders, harbouring SF3B1 constitutional heterozygous variants that appeared mostly de novo. Patients present with a global developmental delay, associated with variable neurological and facial dysmorphic traits. A dichotomy may emerge between patients harbouring predicted loss of function (n = 9) and missense variants (n = 17), the latter being associated with a more severe and syndromic phenotype, including heart and gastrointestinal anomalies. We focused on de novo SF3B1 missense variants, which were largely distinct from those reported in cancer. Functional complementation assays show that de novo SF3B1 missense variants did not cause a loss of function of the protein. Targeted and genome-wide analysis of RNA splicing reveal that they affect canonical and alternative splicing more moderately than somatic variants, and subtly modify the splicing of many transcripts. These findings place SF3B1 among the rare U2 snRNP components implicated in both cancer and neurodevelopmental disorders, highlighting its critical and multifaceted role in human disease.
Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.
The SMARCA4 gene encodes a catalytic subunit of the BRG1/BRM-associated factor complex, which regulates gene expression through chromatin remodeling. Heterozygous missense variants in this gene have been linked to Coffin-Siris syndrome, characterized by intellectual development disorder and various congenital anomalies (distinctive facial features, hypoplastic fifth digits, and malformations of the heart and central nervous system), but it is not typically associated with structural eye anomalies. Truncating variants in SMARCA4 have been associated with rhabdoid tumors predisposition syndrome, a group of rare and aggressive tumors occurring predominantly in infancy. Through pangenomic analyses (whole-exome or whole-genome sequencing), we identified loss-of-function variants in SMARCA4 in three unrelated individuals with microphthalmia and/or coloboma. None of these individuals had a history of rhabdoid tumors; however, a regular oncological follow-up was established following the SMARCA4 variant identification. Systemic features observed in these individuals consisted of developmental delay and brain anomalies. However, their clinical presentation does not align with classic features of Coffin-Siris syndrome. Although eye development anomalies have occasionally been reported in individuals with a pathogenic variant in SMARCA4, no clear association has been established to date. The description of these three new individuals provides further evidence supporting the role of SMARCA4 in eye development and its likely involvement in structural eye malformations.
Prolonged QT Interval in HIV-1 Infected Humanized Mice Treated Chronically with Dolutegravir/Tenofovir Disoproxil Fumarate/Emtricitabine.
The REPRIEVE Trial recently reported high rates of sudden cardiac death (SCD) middle-aged people living with HIV-1 infection (PWH) using the WHO/NIH-recommended two nucleoside reverse transcriptase inhibitors (NRTIs)/one integrase strand inhibitor (INSTI) regimen to manage HIV-1 viremia. To date, clinically relevant animal models to delineate underlying causes for this remain limited. Here, we assessed if HIV-1-infected NOD.Cg-PrkdcscidIl2rgtm1Wjl/SzJ humanized mice (Hu-mice) treated with the WHO/NIH-recommended antiretroviral regimen, dolutegravir (DTG, INSTI)/tenofovir disoproxil fumarate (TDF, NRTIs)/emtricitabine (FTC, NRTIs), can recapitulate abnormalities in the ECG and subclinical structural heart disease that serve as harbingers of SCD in middle-aged PWH. HIV-1-infected and uninfected Hu-mice served as controls. After one month of infection (HIV-1ADA), ECG intervals/segments were significantly altered. ECG changes progressively worsened as the duration of untreated infection increased. Treating HIV-1-infected animals with the DTG/TDF/FTC for eight weeks, starting four weeks after infection, prevented worsening, but did not restore ECG intervals/segments to those before infection. In hearts from DTG/TDF/FTC-treated animals, steady-state levels of the sarco-(endo) plasmic reticulum Ca2+ ATPase (SERCA2) were reduced by 35%. Steady-state levels of type 2 ryanodine receptor (RyR2) did not change, but its phosphorylation status at Ser2808 was 2-fold higher than that of uninfected controls, indicative of a gain-of-function. The density of perfused micro vessels and fibrosis in hearts of DTG/TDF/FTC-treated animals was not significantly different from that of HIV-1-infected and uninfected Hu-mice. These data show for the first time that HIV-1 infection is triggering abnormalities in the ECG of Hu-mice, and changes in ECG persisted with DTG/TDF/FTC treatment, independent of ischemia and/or fibrosis. They also indicate that chronic DTG/TDF/FTC treatment did not worsen ECG changes, including the QT interval. Since phosphorylation of RyR2 at Ser2808 occurs via β-adrenergic activation of protein kinase A, these new data also suggest that chronic hyperadrenergic activity may be increasing the risk of SCD via Ca2+ leak through RyR2.
Publicações recentes
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.
[Pharmacological research progress of five classical prescriptions in treatment of chronic heart failure].
PHACES-like syndrome with TMEM260 compound heterozygous variants.
Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review.
Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion.
📚 EuropePMCmostrando 198
Metabolic syndrome and serum uric acid level in children and adolescents with hypertension.
Journal of hypertensionBeyond the tear: the enduring role of aortic pathology in the era of genomic medicine.
Open heartUnmasking platypnoea-orthodeoxia syndrome: a systematic review of the pathophysiology, clinical spectrum and outcomes of percutaneous intracardiac shunt closure.
Heart (British Cardiac Society)Disturbed mitochondrial maturation in cardiolipin remodeling-deficient cardiomyocytes.
iScienceImpact of metabolic syndrome on cardiac function and myocardial fibrosis in hypertrophic obstructive cardiomyopathy following septal myectomy assessed by cardiac magnetic resonance.
Quantitative imaging in medicine and surgeryPredictive value for intravenous immunoglobulin resistance of Kobayashi and Kawanet scores in 722 children with Kawasaki disease across diverse ethnic backgrounds (KIWI study): an international cohort study.
EClinicalMedicineAnimal models of hypoplastic left heart syndrome: genetic and anatomical approaches.
Pediatric researchA Case Report of Deep Gluteal Syndrome Secondary to Piriformis Enthesopathy Successfully Treated With Ultrasound-Guided Dextrose Prolotherapy.
CureusExperience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study.
Journal of cardiothoracic surgeryIn silico Analysis of CHD4 Mutations Reveals Domain-Specific Impacts on Cardiovascular Disorders Among Patients With Rare Diseases.
Human mutationApplication of Prenatal Whole Exome Sequencing for Congenital Heart Anomalies.
International journal of molecular sciencesCoronary Physiology Across the Whole Spectrum of Ischemic Heart Disease.
Journal of clinical medicineBeyond Sleep: The Cardiovascular Impact of Obstructive Sleep Apnea Syndrome.
Journal of clinical medicineExpanding the Clinical Spectrum of RERE-Related Disorders: A Case Report of Neurodevelopmental Disorder with Brain Malformations Including Chiari Type I.
Molecular syndromologyImpact 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 drugsThe Role of Inflammation in Takotsubo Syndrome: From Pathogenic Pathways To Imaging Insights and Therapeutic Perspectives.
Current cardiology reportsLamotrigine is associated with a nonpathological increase in cardiac electrical conduction in people with and without heart disease.
EpilepsiaGaps in Current Cardiometabolic Risk Assessment: A Review Supporting the Development of the C.O.R.E. Indicator Model.
Journal of clinical medicineDe novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
Nature communicationsExpanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.
Clinical geneticsFirst Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient.
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Pacing and clinical electrophysiology : PACEProlonged QT Interval in HIV-1 Infected Humanized Mice Treated Chronically with Dolutegravir/Tenofovir Disoproxil Fumarate/Emtricitabine.
International journal of molecular sciencesThe effect of a sustainable diet and time-restricted eating and probiotic in heart failure with reduced ejection fraction patients: study protocol for a randomized, double-blind, and placebo-controlled trial.
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Molecular syndromologyRespiratory syncytial virus immunoprophylaxis: an underutilized preventive strategy in children with Down syndrome.
Expert review of respiratory medicineComprehensive comparison of fetal right and left atrial isomerism: cardiac and extracardiac malformations, diagnostic accuracy, and survival outcomes.
Quantitative imaging in medicine and surgeryMacrophages in ventricular remodeling and heart failure: orchestrators of inflammation and repair.
Frontiers in immunologyPortable Electrical Impedance Tomography Enables Heart Ejection Fraction Measurement for Health Screening in Nonspecialist Settings.
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International ConferenceMultiple Breath Washout in Primary Ciliary Dyskinesia: Potential for Lung Disease Monitoring.
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Lancet (London, England)Prenatal Diagnosis of 6q Terminal Deletion Associated with Coffin-Siris Syndrome: Phenotypic Delineation and Review.
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GenesA Del(5Ncf1-Fkbp6) mouse model of Williams syndrome shows coronary, aortic, and cerebral vascular abnormalities with behavioral deficits.
PNAS nexusSudden cardiac death and the role of postmortem genetic testing in unexplained cases.
Indian pacing and electrophysiology journalThe Heart's Small Molecules: The Importance of MicroRNAs in Cardiovascular Health.
Journal of clinical medicineAre NONO variants linked to congenital heart disease? Patient reports and review.
European journal of medical geneticsReversible heart failure secondary to hypocalcemia in a post-thyroidectomy patient: a rare case report.
Annals of medicine and surgery (2012)Assessment of serum caveolin-3 levels in patients with heart failure.
Frontiers in cardiovascular medicineNot all that thickens is hypertrophic cardiomyopathy: a case report of unusual Takotsubo cardiomyopathy.
European heart journal. Case reportsChallenges in postoperative management of a patient with primary ciliary dyskinesia and Joubert syndrome and related disorders with congenital heart disease.
BMJ case reportsBilateral acute limb ischemia complicating incessant supraventricular arrhythmias in wolff-parkinson-white syndrome: evaluating thromboprophylaxis across multiple cardioversions.
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Cureus13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies.
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Current cardiology reportsEchocardiographic Evaluation in Kawasaki Disease.
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Frontiers in cardiovascular medicineHeart Failure and Stroke: A Narrative Review.
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Pharmacological researchCardiovascular abnormalities in children with Turner syndrome: a 15-year retrospective study and analysis of warning signs.
Frontiers in pediatrics[Research advances in the mechanisms of circadian regulation in heart failure].
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The Indian journal of medical researchCardiomyopathy in the Shadow of Fibrillary Glomerulonephritis: An Unusual Indirect Association.
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Journal of cardiology casesThe heart-brain axis: neurocognitive frailty in heart failure.
Journal of neurologyCognitive impairment and risk of dementia in heart failure: the exuberating role of digoxin.
Naunyn-Schmiedeberg's archives of pharmacologyCYTO-SV-ML: A Machine Learning Tool for Cytogenetic Structural Variant Analysis in Somatic Cell Type Using Genome Sequences.
Life (Basel, Switzerland)Identification of a Novel FGFR2 Gene Mutation (c.514_515delinsCT, p.Ala172Leu) in a Chinese Neonate With Apert Syndrome: A Case Report.
American journal of medical genetics. Part A[Genetic analysis for a pedigree with Structural heart defects and renal anomalies syndrome caused by variants of TMEM260 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsWhole Exome Sequencing Identifies a Novel Frameshift Mutation of the WRN Gene in a Werner Syndrome Family and Functional Analysis.
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Nature communicationsACTC1 Variants Result in Isolated and Syndromic Cardiac Phenotypes.
Clinical geneticsHome-Based Care Management for Patients Post-Heart Failure Index Hospitalization: A Comprehensive Review.
CureusTruncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.
American journal of medical genetics. Part AHigh-risk accessory pathway associated with a rare right atrial diverticulum: a case report.
European heart journal. Case reportsMultiorgan Imaging for Interorgan Crosstalk in Cardiometabolic Diseases.
Circulation researchImmunopathology and therapeutic strategies for long COVID: mechanisms, manifestations, and clinical implications.
AIDS reviewsRecessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome.
European journal of human genetics : EJHGPrevalence and Characteristics of Heart Disease in Patients with Acromegaly in Colombia (RAPACO HEART Study).
CardiologySexual dimorphism in animal models of heart failure with preserved ejection fraction.
Journal of applied physiology (Bethesda, Md. : 1985)Volume Optimization Incorporating Negative Pressure Diuresis in Heart Failure (VOID-HF).
ASAIO journal (American Society for Artificial Internal Organs : 1992)Cardiac Channelopathies: Clinical Diagnosis and Promising Therapeutics.
Journal of the American Heart AssociationComplete obstruction of proximal left ascending artery in a very young woman with Kawasaki: a case report and literature review.
Journal of cardiothoracic surgeryNkx2.7 is a conserved regulator of craniofacial development.
Nature communicationsUnderstanding inherited cardiomyopathies: clinical aspects and genetic determinants.
Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.VBerry syndrome, a rare congenital cardiac structural abnormality with 1-stage surgical repair: A case report.
MedicineHistory of Heart Failure Definition.
Cardiac failure review[Role of ultrasound in critically ill patients with heart failure].
Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina)Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team.
American journal of medical genetics. Part C, Seminars in medical geneticsInhibition of Egr2 Protects against TAC-induced Heart Failure in Mice by Suppressing Inflammation and Apoptosis Via Targeting Acot1 in Cardiomyocytes.
Journal of cardiovascular translational researchBi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.
American journal of human geneticsBubR1 Controls Heart Development by Promoting Expression of Cardiogenesis Regulators.
Journal of the American Heart AssociationNucleoredoxin regulates WNT signaling during pituitary stem cell differentiation.
Human molecular geneticsGenetic and Clinical Predictors of Hearing Loss Among Patients with CHARGE Syndrome.
Journal of the American Academy of AudiologySpeckle-tracking and conventional echocardiography in MIS-C: tracking cardiac involvement and recovery.
BMC pediatricsOut-of-Hospital Cardiac Arrest in Apparently Healthy, Young Adults.
JAMADecoding Hearts: Genetic Insights and Clinical Strategies in Congenital Heart Disease.
NeoReviewsUnderstanding Diabetic Cardiomyopathy: Insulin Resistance and Beyond.
Heart internationalReappraisal of ANK2 Variants in Cardiovascular Diseases: Uncovering Mechanisms and Future Directions.
Reviews in cardiovascular medicineEndoscopic Mitral Surgery in Noonan Syndrome-Case Report and Considerations.
Journal of clinical medicineThe Role of Omega-3 Polyunsaturated Fatty Acids in Patients with Metabolic Syndrome and Endothelial Dysfunction.
Medicina (Kaunas, Lithuania)Cardiovascular Disease Screening in Primary School Children.
Children (Basel, Switzerland)Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care.
Frontiers in geneticsHeterotaxy syndrome, dextrocardia, ureteropelvic obstruction, endometriosis, and pulmonary hypertension in an adult with congenital heart defects: a case report.
Journal of medical case reportsPoincaré plot analysis of electrocardiogram uncovers beneficial effects of omaveloxolone in a mouse model of Friedreich's ataxia.
Heart rhythmConstruction of Clinical Predictive Models for Heart Failure Detection Using Six Different Machine Learning Algorithms: Identification of Key Clinical Prognostic Features.
International journal of general medicineNovel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.
Clinical geneticsPercutaneous Transcatheter Approach to Partial Anomalous Pulmonary Venous Return: A Case Series.
The American journal of cardiologyExploring the safety and diagnostic utility of amniocentesis after 24 weeks of gestation: a retrospective analysis.
Journal of perinatal medicineBronchiectasis-COPD Overlap Syndrome: A Comprehensive Review of its Pathophysiology and Potential Cardiovascular Implications.
Therapeutic advances in pulmonary and critical care medicineObesity Associated Reproductive and Sexual Syndrome(OARS) in Men.
JPMA. The Journal of the Pakistan Medical AssociationEarly structural valve deterioration following transcatheter aortic valve implantation in a patient with Scheie syndrome: a case report.
General thoracic and cardiovascular surgery cases[Partial trisomy 9p syndrome: Expanding the phenotype].
Revista medica del Instituto Mexicano del Seguro SocialMenstruation: An Important Indicator for Assessing Stroke Risk and Its Outcomes.
StrokeExperience and Results of Liver Transplantation in Patients With Alagille Syndrome at Our Center.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ TransplantationEndothelial cell-specific progerin expression does not cause cardiovascular alterations and premature death.
Aging cellGenetic investigation and diagnosis in adults with congenital heart disease with or without structural or neurodevelopmental comorbidity: a retrospective chart review.
Frontiers in geneticsSOS1 -Related Noonan Syndrome and Sudden Cardiac Arrest in the Absence of Cardiomyopathy-An Arrhythmia Phenotype?
American journal of medical genetics. Part AValidation of a Paralimbic-Related Subcortical Brain Dysmaturation MRI Score in Infants with Congenital Heart Disease.
Journal of clinical medicineThe impact of specialty training and physician attitudes on fetal cardiac counseling.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansNavigating the Landscape of Coronary Microvascular Research: Trends, Triumphs, and Challenges Ahead.
Reviews in cardiovascular medicineThe Role and Underlying Mechanisms of Exercise in Heart Failure.
Reviews in cardiovascular medicine7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy.
Orphanet journal of rare diseasesRole of Trimethylamine N-Oxide in Heart Failure.
Reviews in cardiovascular medicineAirway Anomalies in Pediatric Patients After Surgery for Congenital Heart Disease: Single-Center Retrospective Cohort Study, Taiwan, 2017-2020.
Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care SocietiesCardiovascular Implications of Gynecological Disorders: Bridging the Gap Between Gynecology and Cardiology.
Cardiology in reviewNew Therapeutics for Heart Failure Worsening: Focus on Vericiguat.
Journal of clinical medicineStress echocardiography in heart failure patients: additive value and caveats.
Heart failure reviewsSystemic Vascular Parameters in Ocular Pseudoexfoliation.
CureusPrevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry.
American journal of medical genetics. Part AEtiology and prognosis of non-Kawasaki disease induced coronary aneurysms in children: a retrospective case series study.
European journal of pediatrics[Effect of obstructive sleep apnea on the severity of acute coronary syndrome].
Zhonghua yi xue za zhiIon Channel Diseases as a Cause of Sudden Cardiac Death in Young People: Aspects of Their Diagnosis, Treatment, and Pathogenesis.
Deutsches Arzteblatt internationalEchocardiographic assessment of patient hemodynamics in heart failure.
Minerva cardiology and angiologyEarly Screening for Long QT Syndrome and Cardiac Anomalies in Infants: A Comprehensive Study.
Clinics and practiceAnalysis of Genes Involved in Oxidative Stress and Iron Metabolism in Heart Failure: A Step Forward in Risk Stratification.
CureusHuman Genetics of Cardiac Arrhythmias.
Advances in experimental medicine and biologyHuman Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle.
Advances in experimental medicine and biologyHuman Genetics of Ventricular Septal Defect.
Advances in experimental medicine and biologyAblation of the epicardial substrate in patients with long-QT syndrome at risk of sudden death.
European heart journal supplements : journal of the European Society of Cardiology[Expert consensus on the diagnosis and treatment of obstructive sleep apnea in women].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseasesThe spectrum of cardiac abnormalities in patients with acromegaly: results from a case-control cardiac magnetic resonance study.
PituitaryExpanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.
European journal of human genetics : EJHGA novel MED12 pathogenic variant in a female fetus with facial cleft and cardiac defects identified in the first trimester.
Prenatal diagnosisCardiac Devices and Kidney Disease.
Seminars in nephrologyEvaluation of T-wave memory after accessory pathway ablation in pediatric patients with Wolff-Parkinson-White syndrome.
Pacing and clinical electrophysiology : PACECardiac care in trisomy 18: A path to improved outcomes (case report).
Journal of Taibah University Medical SciencesMEMS Technology in Cardiology: Advancements and Applications in Heart Failure Management Focusing on the CardioMEMS Device.
Sensors (Basel, Switzerland)Structural and functional abnormalities of left-sided cardiac chambers in Barlow's disease without significant mitral regurgitation.
European heart journal. Cardiovascular ImagingEpidemiology and Management of Patients With Kidney Disease and Heart Failure With Preserved Ejection Fraction.
Seminars in nephrologyVacterl syndrome: Medical and stomatological considerations for comprehensive patient management.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryDistinct Electrogram Features and Ventricular Arrhythmia Induction Modes Between Repolarization and Conduction Heterogeneities.
JACC. Clinical electrophysiologyMechanism and functional substances of Saiga antelope horn in treating hypertension with liver-yang hyperactivity syndrome explored using network pharmacology and metabolomics.
Journal of ethnopharmacologyA Patient With Athlete's Heart Syndrome: When the Abnormal Is Normal.
CureusPrevalence and Patterns of Congenital Heart Defects and Other Major Non-Syndromic Congenital Anomalies Among Down Syndrome Patients: A Retrospective Study.
International journal of general medicineNODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.
Genome medicineAnomalous origin of left coronary artery from the pulmonary artery: Our 30 years of surgical experience and outcomes.
Turk gogus kalp damar cerrahisi dergisiDifferent dose aspirin plus immunoglobulin (DAPI) for prevention of coronary artery abnormalities in Kawasaki disease: Study protocol for a multi-center, prospective, randomized, open-label, blinded end-point, non-inferiority trial.
American heart journalReprogramming of the developing heart by Hif1a-deficient sympathetic system and maternal diabetes exposure.
Frontiers in endocrinologyGenotype-phenotype correlations in a fetus with Kleefstra syndrome.
Taiwanese journal of obstetrics & gynecologyInnovative cardiovascular casting technique features the complex malformation of berry syndrome.
BMC pregnancy and childbirthTrisomy 21-driven metabolite alterations are linked to cellular injuries in Down syndrome.
Cellular and molecular life sciences : CMLSThe c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.
Journal of human geneticsLow Baseline Fetal Heart Rate Leads to Diagnosis of Long QT Syndrome Type 1.
JACC. Case reportsCutis verticis gyrata associated with congenital heart disease.
BMJ case reportsGenetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.
Journal of human geneticsEvaluation and management of patients with coronary chronic total occlusions considered for revascularisation. A clinical consensus statement of the European Association of Percutaneous Cardiovascular Interventions (EAPCI) of the ESC, the European Association of Cardiovascular Imaging (EACVI) of the ESC, and the ESC Working Group on Cardiovascular Surgery.
EuroIntervention : journal of EuroPCR in collaboration with the Working Group on Interventional Cardiology of the European Society of CardiologyPrimary Electrical Heart Disease-Principles of Pathophysiology and Genetics.
International journal of molecular sciencesBiallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.
Genetics in medicine : official journal of the American College of Medical GeneticsBTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.
Journal of medical geneticsPrenatal diagnosis of right aortic arch: associated anomalies and fetal prognosis according to different subtypes.
Journal of perinatal medicineInherited Arrhythmias in the Pediatric Population: An Updated Overview.
Medicina (Kaunas, Lithuania)Chronic Kidney Disease Associated with Ischemic Heart Disease: To What Extent Do Biomarkers Help?
Life (Basel, Switzerland)Endothelial Dysfunction and Heart Failure with Preserved Ejection Fraction-An Updated Review of the Literature.
Life (Basel, Switzerland)Phenotype of Takayasu-like vasculitis and cardiopathy in patients with Blau syndrome.
Clinical rheumatologySeasonal Variation in Sudden Cardiac Death: Insights from a Large United Kingdom Registry.
Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese[Pharmacological research progress of five classical prescriptions in treatment of chronic heart failure].
Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medicaArrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link.
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 CardiologyDynamic changes in mitral valve extracellular matrix, tissue mechanics and function in a mouse model of Marfan syndrome.
Matrix biology : journal of the International Society for Matrix BiologyIntrauterine ultrasound phenotyping, molecular characteristics, and postnatal follow-up of fetuses with the 15q11.2 BP1-BP2 microdeletion syndrome: a single-center, retrospective clinical study.
BMC pregnancy and childbirthRoutine Echocardiography is not Required in Neonates with Arterial Ischemic Stroke.
American journal of perinatologyThe impact of COVID-19 on pulmonary, neurological, and cardiac outcomes: evidence from a Mendelian randomization study.
Frontiers in public healthVentricular Tachycardia Due to Triggered Activity: Role of Early and Delayed Afterdepolarizations.
JACC. Clinical electrophysiologyA novel NONO nonsense variant in a fetus with renal abnormalities.
Prenatal diagnosisTBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis.
Congenital anomalies[Low Output Syndrome:Points to Consider for Intraoperative Myocardial Protection and Treatment Methods].
Kyobu geka. The Japanese journal of thoracic surgeryCrusted scabies in a rabbit model: a severe skin disease or more?
Parasites & vectorsStatus epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology.
Epilepsia openThe value of combined detailed first-trimester ultrasound-biochemical analysis for screening fetal aneuploidy in the era of non-invasive prenatal testing.
Archives of gynecology and obstetricsCardiac Abnormalities in Patients With Severe Fever With Thrombocytopenia Syndrome: A Systematic Review.
Open forum infectious diseasesThe Role of Echocardiography in the Assessment of the Interatrial Septum and Patent Foramen Ovale as an Emboligenic Source.
Arquivos brasileiros de cardiologiaNeurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
American journal of medical genetics. Part ANew drug discovery of cardiac anti-arrhythmic drugs: insights in animal models.
Scientific reportsPrenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.
American journal of medical genetics. Part APrenatal diagnosis of 15q11.2 microdeletion fetuses in Eastern China: 21 case series and literature review.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansAutoimmune Disease in Turner Syndrome in Sweden: An up to 25 Years' Controlled Follow-up Study.
The Journal of clinical endocrinology and metabolismPrenatal diagnosis and early childhood outcome of fetuses with extremely large nuchal translucency.
Molecular cytogeneticsGenetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study.
BMC medical genomicsArterial stiffness but not carotid intima-media thickness progression precedes premature structural and functional cardiac damage in youth: A 7-year temporal and mediation longitudinal 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.
- Disturbed mitochondrial maturation in cardiolipin remodeling-deficient cardiomyocytes.
- Application of Prenatal Whole Exome Sequencing for Congenital Heart Anomalies.
- De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
- Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.
- Prolonged QT Interval in HIV-1 Infected Humanized Mice Treated Chronically with Dolutegravir/Tenofovir Disoproxil Fumarate/Emtricitabine.
- BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.
- [Pharmacological research progress of five classical prescriptions in treatment of chronic heart failure].
- PHACES-like syndrome with TMEM260 compound heterozygous variants.
- Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review.
- Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:689822(Orphanet)
- OMIM OMIM:617478(OMIM)
- MONDO:0044321(MONDO)
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
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.
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