Raras
Buscar doenças, sintomas, genes...
Síndrome de defeitos cardíacos estruturais-anomalias renais
ORPHA:689822CID-10 · Q21.8CID-11 · LA88.YOMIM 617478DOENÇA RARA

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.

Mantido por Agente Raras·Colaborar como especialista →

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

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
11
pacientes catalogados
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PR, PA, PE, BA, CE +10CID-10: Q21.8
🇧🇷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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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

❤️
Coração
5 sintomas
🧠
Neurológico
2 sintomas
🫘
Rins
2 sintomas
🧬
Pele e cabelo
1 sintomas
🦴
Ossos e articulações
1 sintomas
🫁
Pulmão
1 sintomas

+ 11 sintomas em outras categorias

Características mais comuns

100%prev.
Concentração elevada de creatinina circulante
Frequência: 3/3
100%prev.
Sopro cardíaco sistólico
Frequência: 4/4
100%prev.
Defeito do septo ventricular
Frequência: 4/4
75%prev.
Morte na infância
Frequência: 3/4
50%prev.
Tronco arterioso
Frequência: 2/4
50%prev.
Edema generalizado
Frequência: 2/4
25sintomas
Muito frequente (3)
Frequente (5)
Ocasional (15)
Sem dados (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 25 características clínicas mais associadas, ordenadas por frequência.

Concentração elevada de creatinina circulanteElevated circulating creatinine concentration
Frequência: 3/3100%
Sopro cardíaco sistólicoSystolic heart murmur
Frequência: 4/4100%
Defeito do septo ventricularVentricular septal defect
Frequência: 4/4100%
Morte na infânciaDeath in infancy
Frequência: 3/475%
Tronco arteriosoTruncus arteriosus
Frequência: 2/450%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa3
Últimos 10 anos200publicações
Pico202585 papers
Linha do tempo
2023Hoje · 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

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.

TMEM260Protein O-mannosyl-transferase TMEM260Disease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

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)

LOCALIZAÇÃO

Endoplasmic reticulum membraneMembrane

MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Ovário
14.8 TPM
Cervix Endocervix
13.0 TPM
Cérebro - Hemisfério cerebelar
12.5 TPM
Nervo tibial
12.2 TPM
Cervix Ectocervix
12.1 TPM
OUTRAS DOENÇAS (1)
structural heart defects and renal anomalies syndrome
HGNC:20185UniProt:Q9NX78

Variantes genéticas (ClinVar)

56 variantes patogênicas registradas no ClinVar.

🧬 TMEM260: NM_017799.4(TMEM260):c.1227-12C>G ()
🧬 TMEM260: NM_017799.4(TMEM260):c.161-122G>T ()
🧬 TMEM260: NM_017799.4(TMEM260):c.1360G>T (p.Glu454Ter) ()
🧬 TMEM260: NM_017799.4(TMEM260):c.417G>A (p.Trp139Ter) ()
🧬 TMEM260: NC_000014.8:g.(57088421_57092099)_(57092249_57099712)del ()
Ver todas no ClinVar

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 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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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

Disturbed mitochondrial maturation in cardiolipin remodeling-deficient cardiomyocytes.

iScience2026 Mar 20

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.

#2

Application of Prenatal Whole Exome Sequencing for Congenital Heart Anomalies.

International journal of molecular sciences2026 Feb 10

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.

#3

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

Nature communications2026 Jan 23

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.

#4

Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.

Clinical genetics2026 Jan 22

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.

#5

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

International journal of molecular sciences2026 Jan 04

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.

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Disturbed mitochondrial maturation in cardiolipin remodeling-deficient cardiomyocytes.

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Application of Prenatal Whole Exome Sequencing for Congenital Heart Anomalies.

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Journal of clinical medicine
2025

Ventricular Tachycardia as a Manifestation of Cardiac Metastasis Mimicking Acute Coronary Syndrome: A Case Report.

Cureus
2025

Drug treatment of chronic heart failure with reduced ejection fraction.

Drug and therapeutics bulletin
2025

Sirtuins regulate macrophage polarization in heart failure: Metabolic reprogramming, epigenetic regulation, and immune cell interactions.

Pharmacological research
2025

Cardiovascular abnormalities in children with Turner syndrome: a 15-year retrospective study and analysis of warning signs.

Frontiers in pediatrics
2025

[Research advances in the mechanisms of circadian regulation in heart failure].

Sheng li xue bao : [Acta physiologica Sinica]
2025

Exome sequencing uncovers promising candidate genes for foetal structural malformations.

The Indian journal of medical research
2025

Cardiomyopathy in the Shadow of Fibrillary Glomerulonephritis: An Unusual Indirect Association.

Cureus
2025

Fragile X and Fatal Rhythms: Electroconvulsive Therapy-Induced Ventricular Tachycardia.

JACC. Case reports
2025

The Cardiohepatic Axis in Cirrhosis.

JACC. Basic to translational science
2025

Percutaneous management of coronary artery fistula in acute coronary syndrome using a covered stent crush technique: a case report.

BMC cardiovascular disorders
2025

SCN5A mutation-associated sick sinus syndrome revealed by atrial flutter in a pediatric patient.

Journal of cardiology cases
2025

Atypical Holt-Oram syndrome: Early-onset sick sinus syndrome in a Japanese family with a novel TBX5 mutation, Q469.

Journal of cardiology cases
2025

The heart-brain axis: neurocognitive frailty in heart failure.

Journal of neurology
2025

Cognitive impairment and risk of dementia in heart failure: the exuberating role of digoxin.

Naunyn-Schmiedeberg's archives of pharmacology
2025

CYTO-SV-ML: A Machine Learning Tool for Cytogenetic Structural Variant Analysis in Somatic Cell Type Using Genome Sequences.

Life (Basel, Switzerland)
2025

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
2025

[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 genetics
2025

Whole Exome Sequencing Identifies a Novel Frameshift Mutation of the WRN Gene in a Werner Syndrome Family and Functional Analysis.

Molecular genetics &amp; genomic medicine
2025

Cardiac arrhythmias and genetics - current stage.

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V
2025

Bronchopulmonary dysplasia with pulmonary hypertension associates with semaphorin signaling loss and functionally decreased FOXF1 expression.

Nature communications
2025

ACTC1 Variants Result in Isolated and Syndromic Cardiac Phenotypes.

Clinical genetics
2025

Home-Based Care Management for Patients Post-Heart Failure Index Hospitalization: A Comprehensive Review.

Cureus
2025

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.

American journal of medical genetics. Part A
2025

High-risk accessory pathway associated with a rare right atrial diverticulum: a case report.

European heart journal. Case reports
2025

Multiorgan Imaging for Interorgan Crosstalk in Cardiometabolic Diseases.

Circulation research
2025

Immunopathology and therapeutic strategies for long COVID: mechanisms, manifestations, and clinical implications.

AIDS reviews
2026

Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome.

European journal of human genetics : EJHG
2025

Prevalence and Characteristics of Heart Disease in Patients with Acromegaly in Colombia (RAPACO HEART Study).

Cardiology
2025

Sexual dimorphism in animal models of heart failure with preserved ejection fraction.

Journal of applied physiology (Bethesda, Md. : 1985)
2025

Volume Optimization Incorporating Negative Pressure Diuresis in Heart Failure (VOID-HF).

ASAIO journal (American Society for Artificial Internal Organs : 1992)
2025

Cardiac Channelopathies: Clinical Diagnosis and Promising Therapeutics.

Journal of the American Heart Association
2025

Complete obstruction of proximal left ascending artery in a very young woman with Kawasaki: a case report and literature review.

Journal of cardiothoracic surgery
2025

Nkx2.7 is a conserved regulator of craniofacial development.

Nature communications
2025

Understanding inherited cardiomyopathies: clinical aspects and genetic determinants.

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V
2025

Berry syndrome, a rare congenital cardiac structural abnormality with 1-stage surgical repair: A case report.

Medicine
2025

History of Heart Failure Definition.

Cardiac failure review
2025

[Role of ultrasound in critically ill patients with heart failure].

Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina)
2025

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 genetics
2025

Inhibition of Egr2 Protects against TAC-induced Heart Failure in Mice by Suppressing Inflammation and Apoptosis Via Targeting Acot1 in Cardiomyocytes.

Journal of cardiovascular translational research
2025

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

American journal of human genetics
2025

BubR1 Controls Heart Development by Promoting Expression of Cardiogenesis Regulators.

Journal of the American Heart Association
2025

Nucleoredoxin regulates WNT signaling during pituitary stem cell differentiation.

Human molecular genetics
2025

Genetic and Clinical Predictors of Hearing Loss Among Patients with CHARGE Syndrome.

Journal of the American Academy of Audiology
2025

Speckle-tracking and conventional echocardiography in MIS-C: tracking cardiac involvement and recovery.

BMC pediatrics
2025

Out-of-Hospital Cardiac Arrest in Apparently Healthy, Young Adults.

JAMA
2025

Decoding Hearts: Genetic Insights and Clinical Strategies in Congenital Heart Disease.

NeoReviews
2024

Understanding Diabetic Cardiomyopathy: Insulin Resistance and Beyond.

Heart international
2025

Reappraisal of ANK2 Variants in Cardiovascular Diseases: Uncovering Mechanisms and Future Directions.

Reviews in cardiovascular medicine
2025

Endoscopic Mitral Surgery in Noonan Syndrome-Case Report and Considerations.

Journal of clinical medicine
2024

The Role of Omega-3 Polyunsaturated Fatty Acids in Patients with Metabolic Syndrome and Endothelial Dysfunction.

Medicina (Kaunas, Lithuania)
2024

Cardiovascular Disease Screening in Primary School Children.

Children (Basel, Switzerland)
2024

Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care.

Frontiers in genetics
2025

Heterotaxy syndrome, dextrocardia, ureteropelvic obstruction, endometriosis, and pulmonary hypertension in an adult with congenital heart defects: a case report.

Journal of medical case reports
2025

Poincaré plot analysis of electrocardiogram uncovers beneficial effects of omaveloxolone in a mouse model of Friedreich's ataxia.

Heart rhythm
2024

Construction of Clinical Predictive Models for Heart Failure Detection Using Six Different Machine Learning Algorithms: Identification of Key Clinical Prognostic Features.

International journal of general medicine
2025

Novel Phenotypes and Genotype-Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.

Clinical genetics
2025

Percutaneous Transcatheter Approach to Partial Anomalous Pulmonary Venous Return: A Case Series.

The American journal of cardiology
2025

Exploring the safety and diagnostic utility of amniocentesis after 24 weeks of gestation: a retrospective analysis.

Journal of perinatal medicine
2024

Bronchiectasis-COPD Overlap Syndrome: A Comprehensive Review of its Pathophysiology and Potential Cardiovascular Implications.

Therapeutic advances in pulmonary and critical care medicine
2024

Obesity Associated Reproductive and Sexual Syndrome(OARS) in Men.

JPMA. The Journal of the Pakistan Medical Association
2024

Early structural valve deterioration following transcatheter aortic valve implantation in a patient with Scheie syndrome: a case report.

General thoracic and cardiovascular surgery cases
2024

[Partial trisomy 9p syndrome: Expanding the phenotype].

Revista medica del Instituto Mexicano del Seguro Social
2025

Menstruation: An Important Indicator for Assessing Stroke Risk and Its Outcomes.

Stroke
2024

Experience 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 Transplantation
2025

Endothelial cell-specific progerin expression does not cause cardiovascular alterations and premature death.

Aging cell
2024

Genetic investigation and diagnosis in adults with congenital heart disease with or without structural or neurodevelopmental comorbidity: a retrospective chart review.

Frontiers in genetics
2025

SOS1 -Related Noonan Syndrome and Sudden Cardiac Arrest in the Absence of Cardiomyopathy-An Arrhythmia Phenotype?

American journal of medical genetics. Part A
2024

Validation of a Paralimbic-Related Subcortical Brain Dysmaturation MRI Score in Infants with Congenital Heart Disease.

Journal of clinical medicine
2024

The impact of specialty training and physician attitudes on fetal cardiac counseling.

The journal of maternal-fetal &amp; 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 Obstetricians
2024

Navigating the Landscape of Coronary Microvascular Research: Trends, Triumphs, and Challenges Ahead.

Reviews in cardiovascular medicine
2024

The Role and Underlying Mechanisms of Exercise in Heart Failure.

Reviews in cardiovascular medicine
2024

7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy.

Orphanet journal of rare diseases
2024

Role of Trimethylamine N-Oxide in Heart Failure.

Reviews in cardiovascular medicine
2024

Airway 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 Societies
2024

Cardiovascular Implications of Gynecological Disorders: Bridging the Gap Between Gynecology and Cardiology.

Cardiology in review
2024

New Therapeutics for Heart Failure Worsening: Focus on Vericiguat.

Journal of clinical medicine
2024

Stress echocardiography in heart failure patients: additive value and caveats.

Heart failure reviews
2024

Systemic Vascular Parameters in Ocular Pseudoexfoliation.

Cureus
2024

Prevalence, 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 A
2024

Etiology and prognosis of non-Kawasaki disease induced coronary aneurysms in children: a retrospective case series study.

European journal of pediatrics
2024

[Effect of obstructive sleep apnea on the severity of acute coronary syndrome].

Zhonghua yi xue za zhi
2024

Ion Channel Diseases as a Cause of Sudden Cardiac Death in Young People: Aspects of Their Diagnosis, Treatment, and Pathogenesis.

Deutsches Arzteblatt international
2025

Echocardiographic assessment of patient hemodynamics in heart failure.

Minerva cardiology and angiology
2024

Early Screening for Long QT Syndrome and Cardiac Anomalies in Infants: A Comprehensive Study.

Clinics and practice
2024

Analysis of Genes Involved in Oxidative Stress and Iron Metabolism in Heart Failure: A Step Forward in Risk Stratification.

Cureus
2024

Human Genetics of Cardiac Arrhythmias.

Advances in experimental medicine and biology
2024

Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle.

Advances in experimental medicine and biology
2024

Human Genetics of Ventricular Septal Defect.

Advances in experimental medicine and biology
2024

Ablation 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
2024

[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 diseases
2024

The spectrum of cardiac abnormalities in patients with acromegaly: results from a case-control cardiac magnetic resonance study.

Pituitary
2024

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.

European journal of human genetics : EJHG
2024

A novel MED12 pathogenic variant in a female fetus with facial cleft and cardiac defects identified in the first trimester.

Prenatal diagnosis
2024

Cardiac Devices and Kidney Disease.

Seminars in nephrology
2024

Evaluation of T-wave memory after accessory pathway ablation in pediatric patients with Wolff-Parkinson-White syndrome.

Pacing and clinical electrophysiology : PACE
2024

Cardiac care in trisomy 18: A path to improved outcomes (case report).

Journal of Taibah University Medical Sciences
2024

MEMS Technology in Cardiology: Advancements and Applications in Heart Failure Management Focusing on the CardioMEMS Device.

Sensors (Basel, Switzerland)
2024

Structural and functional abnormalities of left-sided cardiac chambers in Barlow's disease without significant mitral regurgitation.

European heart journal. Cardiovascular Imaging
2024

Epidemiology and Management of Patients With Kidney Disease and Heart Failure With Preserved Ejection Fraction.

Seminars in nephrology
2024

Vacterl 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 Dentistry
2024

Distinct Electrogram Features and Ventricular Arrhythmia Induction Modes Between Repolarization and Conduction Heterogeneities.

JACC. Clinical electrophysiology
2024

Mechanism and functional substances of Saiga antelope horn in treating hypertension with liver-yang hyperactivity syndrome explored using network pharmacology and metabolomics.

Journal of ethnopharmacology
2024

A Patient With Athlete's Heart Syndrome: When the Abnormal Is Normal.

Cureus
2024

Prevalence and Patterns of Congenital Heart Defects and Other Major Non-Syndromic Congenital Anomalies Among Down Syndrome Patients: A Retrospective Study.

International journal of general medicine
2024

NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.

Genome medicine
2024

Anomalous origin of left coronary artery from the pulmonary artery: Our 30 years of surgical experience and outcomes.

Turk gogus kalp damar cerrahisi dergisi
2024

Different 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 journal
2024

Reprogramming of the developing heart by Hif1a-deficient sympathetic system and maternal diabetes exposure.

Frontiers in endocrinology
2024

Genotype-phenotype correlations in a fetus with Kleefstra syndrome.

Taiwanese journal of obstetrics &amp; gynecology
2024

Innovative cardiovascular casting technique features the complex malformation of berry syndrome.

BMC pregnancy and childbirth
2024

Trisomy 21-driven metabolite alterations are linked to cellular injuries in Down syndrome.

Cellular and molecular life sciences : CMLS
2024

The 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 genetics
2024

Low Baseline Fetal Heart Rate Leads to Diagnosis of Long QT Syndrome Type 1.

JACC. Case reports
2024

Cutis verticis gyrata associated with congenital heart disease.

BMJ case reports
2024

Genetic 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 genetics
2024

Evaluation 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 Cardiology
2024

Primary Electrical Heart Disease-Principles of Pathophysiology and Genetics.

International journal of molecular sciences
2024

Biallelic 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 Genetics
2024

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.

Journal of medical genetics
2024

Prenatal diagnosis of right aortic arch: associated anomalies and fetal prognosis according to different subtypes.

Journal of perinatal medicine
2024

Inherited Arrhythmias in the Pediatric Population: An Updated Overview.

Medicina (Kaunas, Lithuania)
2023

Chronic Kidney Disease Associated with Ischemic Heart Disease: To What Extent Do Biomarkers Help?

Life (Basel, Switzerland)
2023

Endothelial Dysfunction and Heart Failure with Preserved Ejection Fraction-An Updated Review of the Literature.

Life (Basel, Switzerland)
2024

Phenotype of Takayasu-like vasculitis and cardiopathy in patients with Blau syndrome.

Clinical rheumatology
2025

Seasonal Variation in Sudden Cardiac Death: Insights from a Large United Kingdom Registry.

Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese
2023

[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 medica
2023

Arrhythmias 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 Cardiology
2024

Dynamic 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 Biology
2024

Intrauterine 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 childbirth
2024

Routine Echocardiography is not Required in Neonates with Arterial Ischemic Stroke.

American journal of perinatology
2023

The impact of COVID-19 on pulmonary, neurological, and cardiac outcomes: evidence from a Mendelian randomization study.

Frontiers in public health
2024

Ventricular Tachycardia Due to Triggered Activity: Role of Early and Delayed Afterdepolarizations.

JACC. Clinical electrophysiology
2024

A novel NONO nonsense variant in a fetus with renal abnormalities.

Prenatal diagnosis
2024

TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis.

Congenital anomalies
2023

[Low Output Syndrome:Points to Consider for Intraoperative Myocardial Protection and Treatment Methods].

Kyobu geka. The Japanese journal of thoracic surgery
2023

Crusted scabies in a rabbit model: a severe skin disease or more?

Parasites &amp; vectors
2024

Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology.

Epilepsia open
2024

The 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 obstetrics
2023

Cardiac Abnormalities in Patients With Severe Fever With Thrombocytopenia Syndrome: A Systematic Review.

Open forum infectious diseases
2023

The Role of Echocardiography in the Assessment of the Interatrial Septum and Patent Foramen Ovale as an Emboligenic Source.

Arquivos brasileiros de cardiologia
2024

Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.

American journal of medical genetics. Part A
2023

New drug discovery of cardiac anti-arrhythmic drugs: insights in animal models.

Scientific reports
2024

Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies.

American journal of medical genetics. Part A
2023

Prenatal diagnosis of 15q11.2 microdeletion fetuses in Eastern China: 21 case series and literature review.

The journal of maternal-fetal &amp; 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 Obstetricians
2024

Autoimmune Disease in Turner Syndrome in Sweden: An up to 25 Years' Controlled Follow-up Study.

The Journal of clinical endocrinology and metabolism
2023

Prenatal diagnosis and early childhood outcome of fetuses with extremely large nuchal translucency.

Molecular cytogenetics
2023

Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study.

BMC medical genomics
2023

Arterial 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.

Atherosclerosis

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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. Disturbed mitochondrial maturation in cardiolipin remodeling-deficient cardiomyocytes.
    iScience· 2026· PMID 41847620mais citado
  2. Application of Prenatal Whole Exome Sequencing for Congenital Heart Anomalies.
    International journal of molecular sciences· 2026· PMID 41751857mais citado
  3. De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
    Nature communications· 2026· PMID 41577671mais citado
  4. Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.
    Clinical genetics· 2026· PMID 41568967mais citado
  5. Prolonged QT Interval in HIV-1 Infected Humanized Mice Treated Chronically with Dolutegravir/Tenofovir Disoproxil Fumarate/Emtricitabine.
    International journal of molecular sciences· 2026· PMID 41516391mais citado
  6. BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.
    J Med Genet· 2024· PMID 38296633recente
  7. [Pharmacological research progress of five classical prescriptions in treatment of chronic heart failure].
    Zhongguo Zhong Yao Za Zhi· 2023· PMID 38211989recente
  8. PHACES-like syndrome with TMEM260 compound heterozygous variants.
    Am J Med Genet A· 2023· PMID 37183566recente
  9. Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review.
    Genes (Basel)· 2023· PMID 36672887recente
  10. Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion.
    Genes (Basel)· 2022· PMID 36553582recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:689822(Orphanet)
  2. OMIM OMIM:617478(OMIM)
  3. MONDO:0044321(MONDO)
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Síndrome de defeitos cardíacos estruturais-anomalias renais
Compêndio · Raras BR

Síndrome de defeitos cardíacos estruturais-anomalias renais

ORPHA:689822 · MONDO:0044321
Prevalência
<1 / 1 000 000
Casos
11 casos conhecidos
Herança
Autosomal recessive
CID-10
Q21.8 · Outras malformações congênitas dos septos cardíacos
CID-11
Início
Antenatal, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
Wikipedia
DiscussaoAtiva

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