Raras
Buscar doenças, sintomas, genes...
Isomerismo auricular lado direito
ORPHA:97548CID-10 · Q20.6CID-11 · LA8YOMIM 208530DOENÇA RARA

Heterotaxia visceral caracterizada por comunicação interatrioventricular completa com átrio comum e conexão AV univentricular, drenagem pulmonar anômala total e transposição ou mau posicionamento das grandes artérias e pode estar associada a pulmões trilobados bilaterais, fígado na linha média, asplenia e situs inversus afetando outros órgãos que tem base material em mutação homozigótica no gene GDF1 no cromossomo 19p12.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Heterotaxia visceral caracterizada por comunicação interatrioventricular completa com átrio comum e conexão AV univentricular, drenagem pulmonar anômala total e transposição ou mau posicionamento das grandes artérias e pode estar associada a pulmões trilobados bilaterais, fígado na linha média, asplenia e situs inversus afetando outros órgãos que tem base material em mutação homozigótica no gene GDF1 no cromossomo 19p12.

Publicações científicas
209 artigos
Último publicado: 2026 Feb

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
France
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q20.6
🇧🇷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
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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
8 sintomas
🫃
Digestivo
2 sintomas
🫁
Pulmão
2 sintomas
🦴
Ossos e articulações
1 sintomas

+ 8 sintomas em outras categorias

Características mais comuns

100%prev.
Retorno venoso pulmonar anômalo total
Frequência: 5/5
100%prev.
Asplenia
Frequência: 5/5
100%prev.
Átrio comum
Frequência: 5/5
70%prev.
Transposição das grandes artérias
Frequência: 7/10
40%prev.
Situs inversus totalis
Frequência: 2/5
40%prev.
Dextrocardia
Frequência: 2/5
21sintomas
Muito frequente (3)
Frequente (3)
Ocasional (3)
Sem dados (12)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 21 características clínicas mais associadas, ordenadas por frequência.

Retorno venoso pulmonar anômalo totalTotal anomalous pulmonary venous return
Frequência: 5/5100%
Asplenia
Frequência: 5/5100%
Átrio comumCommon atrium
Frequência: 5/5100%
Transposição das grandes artériasTransposition of the great arteries
Frequência: 7/1070%
Situs inversus totalis
Frequência: 2/540%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2025
Total histórico209PubMed
Últimos 10 anos75publicações
Pico202211 papers
Linha do tempo
2025Hoje · 2026🧪 2009Primeiro ensaio clínico📈 2022Ano 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.

GDF1Embryonic growth/differentiation factor 1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

May mediate cell differentiation events during embryonic development

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (1)
Signaling by NODAL
MECANISMO DE DOENÇA

Conotruncal heart malformations

A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle.

VIAS REACTOME (1)
OUTRAS DOENÇAS (4)
congenital heart defects, multiple types, 6right atrial isomerismisolated congenitally uncorrected transposition of the great arteriestetralogy of fallot
HGNC:4214UniProt:P27539

Variantes genéticas (ClinVar)

76 variantes patogênicas registradas no ClinVar.

🧬 GDF1: NM_001492.6(GDF1):c.808_809del (p.Arg270fs) ()
🧬 GDF1: NM_001492.6(GDF1):c.1048_1050del (p.Phe350del) ()
🧬 GDF1: NM_001492.6(GDF1):c.609G>A (p.Trp203Ter) ()
🧬 GDF1: NM_001492.6(GDF1):c.77T>G (p.Leu26Arg) ()
🧬 GDF1: NM_001492.6(GDF1):c.166C>T (p.Arg56Trp) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Isomerismo auricular lado direito

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
75 papers (10 anos)
#1

COVID-19 in an adult with right isomerism and Fontan circulation: Successful management using risk stratification.

Fujita medical journal2026 Feb

Reports regarding coronavirus disease 2019 (COVID-19) with Fontan circulation are limited. Most studies indicate a relatively good clinical outcome in which SARS-CoV-2 infection is abated; however, COVID-19 can still cause severe pneumonia, and some studies report circulatory breakdown associated with acute respiratory distress syndrome in patients with Fontan circulation. We present the case of a 32-year-old Japanese woman with right isomerism and a single right ventricle who had undergone a fenestrated extracardiac total cavopulmonary connection (Fontan operation), atrioventricular valve replacement, and pacemaker implantation. Despite receiving three doses of the severe acute respiratory syndrome coronavirus 2 mRNA vaccine, the patient contracted COVID-19 and presented with pneumonia. Although her symptoms were mild, the patient was classified as high-risk based on the European Society of Cardiology risk stratification guidelines for COVID-19 in patients with adult congenital heart disease and was admitted to the hospital. Initially, the patient received only symptomatic treatment. However, 2 days later, the patient's COVID-19 condition worsened to moderate grade level II (SpO2 ≤93%, oxygen demand), with SpO2 dropping from 95% to 88% on room air. Treatment with remdesivir and dexamethasone following Japanese treatment protocols resulted in clinical improvement and discharge without hemodynamic complications. COVID-19 pneumonia risks disrupting Fontan circulation in affected patients. This case illustrates the importance of prompt risk stratification using anatomical and physical evaluation and adherence to treatment guidelines in the management of patients with Fontan circulation and COVID-19.

#2

From multiple spleens to absence: Insights from two cases of heterotaxy syndromes.

Radiology case reports2026 Mar

Heterotaxy syndrome is a rare congenital disorder characterized by abnormal arrangement of the thoracic and abdominal organs and is classified into polysplenia (left isomerism) and asplenia (right isomerism) syndromes. Polysplenia is associated with multiple splenic nodules, bilobed lungs, vascular anomalies, and organ malpositioning. In contrast, asplenia features bilateral trilobed lungs and eparterial bronchi, and is commonly associated with severe cardiac defects and high neonatal mortality. Here, we report 2 cases that illustrate the clinical spectrum of heterotaxy syndrome. The first case involved a 59-year-old female presenting with vague abdominal pain that was incidentally found to have features of polysplenia syndrome, including multiple splenules, malpositioned liver, partial pancreatic agenesis, and bilobed lungs. The second case was a 26-hour-old neonate who presented with cyanosis and respiratory distress and was diagnosed with right isomerism and complex congenital heart disease, including right ventricular outflow tract (RVOT) stenosis, atrioventricular canal defect, situs inversus, and asplenia. These cases highlight the varied presentations and anatomical complexity of heterotaxy syndrome, emphasizing the role of imaging in its diagnosis and clinical management.

#3

Clarifying the Cardiovascular Morphology and Associated Abnormalities in Patients with Double Inlet Right Ventricle Using Multidetector CT Angiography.

Pediatric cardiology2026 Jan

We sought to evaluate the intracardiac morphology and associated cardiovascular anomalies in patients with double inlet right ventricle (DIRV) on multidetector CT angiography. A retrospective search of our departmental database was conducted from January 2014 to January 2023 to identify patients with a diagnosis of DIRV on CT angiography. The intracardiac anatomy and associated cardiovascular abnormalities were systematically evaluated. Patients with a common atrioventricular valve were excluded. DIRV was diagnosed in 41 patients (36 males, 5 females; mean age at imaging: 7.4 years [range: 4 months-30 years]). Mirror-imaged viscero-atrial arrangement was observed in 12/41 (29.3%) while right isomerism and left isomerism were seen in 6/41 (14.6%) and 2/41 (4.9%) patients respectively. Hypoplastic left ventricular cavity was seen in 39/41 (95.1%) patients. AV valve straddling was observed in 40/41 (97.6%) patients. Atrial septal defect was seen in 28/41 (68.3%) patients. All (100%) patients had presence of ventricular septal defect. Twisted atrioventricular connections were seen in 4/41 (9.8%) patients. The most common ventriculo-arterial morphology was presence of double outlet right ventricle (DORV) seen in 25/41 (61%) patients. Some degree of pulmonary outflow obstruction was seen in 24/41 (58.5%) patients. Systemic venous anomalies, pulmonary venous anomalies and coronary artery anomalies were observed in 13/41 (31.7%), 6/41 (14.6%) and 8/41 (19.5%) patients. DIRV is a type of single ventricle congenital heart disease associated with an array of cardiovascular abnormalities, most commonly DORV and pulmonary outflow tract obstruction. The knowledge of associated anomalies is imperative for preoperative planning. CT angiography allows for detailed anatomical evaluation of DIRV and associated cardiovascular anomalies which may positively impact surgical management in these patients.

#4

Specific cardiovascular morphology on computed tomography angiography in patients with right isomerism.

Pediatrics international : official journal of the Japan Pediatric Society2025

Children with right isomerism usually accompany complex congenital heart disease, which is associated with pulmonary atresia, common atrioventricular valve, and total anomalous pulmonary venous connection. This study aimed to explore specific cardiovascular morphology associated with right isomerism on computed tomography angiography (CTA). We retrospectively reviewed CTA images to assess the atrio-ventricular connections and the spatial relationship between the systemic and pulmonary channels in children with right isomerism. We studied 33 patients (17 females). Atrial situs was classified into solitus and inversus in 21 and 12 patients, respectively. Atrioventricular valve morphology included unilateral insertion in 15/33 (46%), balanced insertion into both ventricles in 11/33 (33%), unbalanced insertion into both ventricles in 7/33 (21%), and common atrioventricular valve in 27/33 (82%). The pulmonary connection included atresia and stenosis in 14/33 (42%) and 17/33 (52%), respectively. The anteroposterior relationship between the aorta and the pulmonary trunk was observed in 15/33 (46%). Total anomalous pulmonary venous connection concurred in 21/33 (63%), including supracardiac type in 16/21 (76%) and infracardiac type in 2/21 (10%). Preoperative pulmonary venous obstruction was found in 10/21 (47%). There were 14 patients with bilateral superior caval veins (42%). The anteroposterior relationship between the aorta and the pulmonary trunk was significantly correlated to the pulmonary arterial and venous channel anomalies (p = 0.001 and p = 0.027). The spatial relationship between the systemic and pulmonary channels was associated with distinct cardiovascular morphology associated with right isomerism.

#5

Plasticity of ventricle position after heart looping in heterotaxy with right isomerism.

Science advances2025 Sep 19

The heart functions in two parallel but asymmetric circulations, driven by the right and left ventricles. In the heterotaxy syndrome, abnormal left-right patterning leads to a spectrum of severe congenital heart defects, including ventricle malposition. A postulate anchored in the clinical nomenclature assumes that the looping direction of the embryonic heart tube determines ventricle position at birth. However, this has not been demonstrated experimentally. Here, we performed a unique longitudinal analysis of heterotaxy with right isomerism, using multimodality imaging of Nodal mouse mutants. Using direct correlations and advanced statistics, we dissected the contribution of heart looping variations to specific structural heart malformations, and uncovered unexpected plasticity of ventricle position after looping in 30% of revertant samples. Genetic tracing and topological associations show that plasticity involves a further step of heart remodeling at E13.5, rather than molecular reprogramming. Human patient scans are consistent with ventricle plasticity and suggest association with poorer prognosis. Our work reveals distinct asymmetric events shaping organs.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC46 artigos no totalmostrando 75

2026

COVID-19 in an adult with right isomerism and Fontan circulation: Successful management using risk stratification.

Fujita medical journal
2026

From multiple spleens to absence: Insights from two cases of heterotaxy syndromes.

Radiology case reports
2025

Outcomes of Current Surgical Strategy for Achieving Optimal Fontan Haemodynamics in Patients With Right Isomerism.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2025

Specific cardiovascular morphology on computed tomography angiography in patients with right isomerism.

Pediatrics international : official journal of the Japan Pediatric Society
2025

Aberrant fibromuscular common atrial band in right isomerism.

BMJ case reports
2025

Plasticity of ventricle position after heart looping in heterotaxy with right isomerism.

Science advances
2025

The Ultrasound and Genetic Characteristics of Fetuses With Laterality Defects-A Prenatal Cohort in Asian Population.

Prenatal diagnosis
2025

A Retrospective Study on the Imaging Spectrum of Functional Single Ventricle and Its Associations.

The Indian journal of radiology &amp; imaging
2025

Cardiopulmonary exercise testing surprise: deciphering a shifting QRS axis in right isomerism-electrocardiogram challenge.

European heart journal. Case reports
2025

Clarifying the cardiovascular morphology and associated abnormalities in patients with tricuspid Atresia using multidetector computed tomography angiography.

The international journal of cardiovascular imaging
2025

Left Isomerism With Normal Bronchopulmonary Anatomy: Broadening the Heterotaxy Spectrum.

Case reports in radiology
2026

Clarifying the Cardiovascular Morphology and Associated Abnormalities in Patients with Double Inlet Right Ventricle Using Multidetector CT Angiography.

Pediatric cardiology
2024

A Rare Presentation of Hepatolithiasis and Acute Cholangitis: A Case Report Highlighting Heterotaxy Syndrome With Left Isomerism.

Cureus
2024

Catheter Ablation of Tachycardia Involving Twin/Single Atrioventricular Node in Patients With Right Isomerism.

Pacing and clinical electrophysiology : PACE
2024

Fetal bradyarrhythmias: classification, monitoring and outcomes of 40 cases at a single center.

Journal of perinatal medicine
2024

Thoracic duct drainage patterns in heterotaxy.

Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance
2023

Normal pulmonary venous drainage in the setting of total anomalous pulmonary venous connection.

Annals of pediatric cardiology
2024

Heterotaxy Syndrome With Right Isomerism and Interrupted Inferior Vena Cava: A Case Report and Literature Review.

Cureus
2024

Prenatal diagnosis of total anomalous pulmonary venous connection with vertical vein branching into two.

Journal of medical ultrasonics (2001)
2024

Persistant Left Superior Vena Cava with and Without Right Superior Vena Cava: Significance of Prenatal Diagnosis.

Pediatric cardiology
2023

Characterization of ultrasound and postnatal pathology in fetuses with heterotaxy syndrome.

Frontiers in cardiovascular medicine
2023

Long-Term Surgical Outcomes of Patients With Isomeric Right and Left Atrial Appendages.

World journal for pediatric &amp; congenital heart surgery
2022

Ductus arteriosus banding to regulate excessive pulmonary blood flow in a neonate with necrotizing enterocolitis and complex congenital heart disease, including pulmonary atresia and total anomalous pulmonary venous return: a case report.

Journal of cardiothoracic surgery
2022

Strategy of delayed repair of total anomalous pulmonary venous connection in right atrial isomerism and functional single ventricle.

JTCVS open
2022

Genetic and Clinical Features of Heterotaxy in a Prenatal Cohort.

Frontiers in genetics
2022

Imaging characteristics and associations of left atrioventricular valve atresia and patent aortic root with isometric atrial appendages on multidetector CT.

Journal of cardiac surgery
2022

Homozygous variants in the GDF1 gene related to recurrent right isomerism and complex CHD in two Indian families.

Cardiology in the young
2022

The surgical anatomy of hearts with isomeric atrial appendages-implications for surgical management.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2022

Risk factors for mortality after cardiovascular surgery in patients with functional single ventricle and right isomerism.

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2022

Surgical management of hearts with isomeric atrial appendages.

Journal of cardiac surgery
2022

Pulmonary Versus Systemic Outflow Obstruction in Functionally Univentricular Hearts with Isomerism: An Observation.

Pediatric cardiology
2022

Bilateral tracheal bronchi in a patient with right isomerism.

Journal of cardiovascular computed tomography
2022

Primary central pulmonary artery plasty for right atrial isomerism with pulmonary coarctation.

Asian cardiovascular &amp; thoracic annals
2021

Fetal Ultrasonic Evaluation of Bronchial Morphology in Fetuses with Isomerism.

Fetal diagnosis and therapy
2021

Pitx controls amphioxus asymmetric morphogenesis by promoting left-side development and repressing right-side formation.

BMC biology
2021

Surgical management of lesions encountered in the setting of the retroaortic left brachiocephalic vein.

Journal of cardiac surgery
2021

Intrapulmonary Right Vertical Vein in Supracardiac Total Anomalous Pulmonary Venous Connection with Right Isomerism.

Radiology. Cardiothoracic imaging
2021

A rare pediatric case of bilateral bronchopulmonary vascular malformations and right isomerism.

Journal of cardiac surgery
2021

Asymptomatic left isomerism with preduodenal portal vein: computed tomography appearance.

Surgical and radiologic anatomy : SRA
2021

Congenitally Malformed Hearts: Aspects of Teaching and Research Involving Medical Students.

Journal of cardiovascular development and disease
2021

Echocardiogram Unmasked Hemodynamic Advantage of Atrial Pacing in Securing Ventricular Preload in a Fontan Patient with Junctional Rhythm.

International heart journal
2020

Retrograde sharp potential resembling the his-bundle electrogram: is this a case of atrioventricular re-entrant tachycardia involving twin atrioventricular nodes with the anterior node exhibiting only retrograde conduction?

Cardiology in the young
2020

Prenatal diagnosis of asplenia syndrome with sliding hiatus hernia in a fetus.

Annals of pediatric cardiology
2020

The Spectrum of Cardiac Anomalies Associated with Heterotaxy: A Single-Center Study of a Large Series Based on Computed Tomography.

Pediatric cardiology
2020

Polysplenia syndrome with complex heart disease and jejunal atresia with malrotation in neonate: A case report.

Clinical case reports
2020

Heterotaxy Polysplenia Syndrome in Adulthood: Focused Review and a Case Report.

Cureus
2020

A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.

American journal of medical genetics. Part A
2020

Heterotaxy Is Not a Risk Factor for Adverse Long-Term Outcomes After Fontan Completion.

The Annals of thoracic surgery
2019

Spontaneous Left Cardiac Isomerism in Chick Embryos: Case Report, Review of the Literature, and Possible Significance for the Understanding of Ventricular Non-Compaction Cardiomyopathy in the Setting of Human Heterotaxy Syndromes.

Journal of cardiovascular development and disease
2019

Persistent right umbilical vein in isomerism.

Prenatal diagnosis
2021

Characteristics and outcomes of fetuses with laterality defects are the current outcomes better? A single center study.

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
2019

Pre natal evaluation of heterotaxy syndrome by fetal echocardiography and correlating with autopsy.

Ultrasound (Leeds, England)
2019

Development of acquired intrapulmonary venous anastomosis contributing to establishment of Fontan circulation.

Pulmonary circulation
2018

Complex Congenital Heart Disease Associated With Disordered Myocardial Architecture in a Midtrimester Human Fetus.

Circulation. Cardiovascular imaging
2018

Complex congenital cardiac anomalies in the setting of right isomerism in a 31-month-old infant: a case report.

Journal of medical case reports
2018

Accuracy of echocardiography in diagnosing total anomalous pulmonary venous return.

Pakistan journal of medical sciences
2018

Transposition of the great arteries: A laterality defect in the group of heterotaxy syndromes or an outflow tract malformation?

Annals of pediatric cardiology
2018

Heterotaxy Syndrome and Intestinal Rotation Abnormalities.

Pediatrics
2018

A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity.

Scientific reports
2018

Disharmonious Patterns of Heterotaxy and Isomerism: How Often Are the Classic Patterns Breached?

Circulation. Cardiovascular imaging
2018

Is an Appreciation of Isomerism the Key to Unlocking the Mysteries of the Cardiac Findings in Heterotaxy?

Journal of cardiovascular development and disease
2018

The Bmp signaling pathway regulates development of left-right asymmetry in amphioxus.

Developmental biology
2017

The evolution of asymmetric photosensitive structures in metazoans and the Nodal connection.

Mechanisms of development
2018

Prenatal diagnosis of total and partial anomalous pulmonary venous connection: multicenter cohort study and meta-analysis.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2017

Partial anomalous hepatic venous drainage into left-sided atrium with right isomerism: A case report with review of literature.

The Indian journal of radiology &amp; imaging
2017

Ivemark syndrome: bronchial compression from anomalous pulmonary venous anatomy.

Journal of surgical case reports
2017

Segregating bodily isomerism or heterotaxy: potential echocardiographic correlations of morphological findings.

Cardiology in the young
2016

Diverse multi-organ histopathologic changes in a failed Fontan patient.

Pediatrics international : official journal of the Japan Pediatric Society
2016

Intestinal malrotation in patients with situs anomaly: Implication of the relative positions of the superior mesenteric artery and vein.

European journal of radiology
2016

Asplenia Syndrome in a Neonate: A Case Report.

Journal of clinical and diagnostic research : JCDR
2016

Mechanism responsible for D-transposition of the great arteries: Is this part of the spectrum of right isomerism?

Congenital anomalies
2016

Impact of Era, Type of Isomerism, and Ventricular Morphology on Survival in Heterotaxy: Implications for Therapeutic Management.

World journal for pediatric &amp; congenital heart surgery
2016

Chronic Arrhythmias in the Setting of Heterotaxy: Differences between Right and Left Isomerism.

Congenital heart disease
2015

[Total Anomalous Pulmonary Venous Connection].

Kyobu geka. The Japanese journal of thoracic surgery
2015

The importance of being isomeric.

Clinical anatomy (New York, N.Y.)

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Isomerismo auricular lado direito.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Isomerismo auricular lado direito

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

Participe da discussão

Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.

Fazer login

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. COVID-19 in an adult with right isomerism and Fontan circulation: Successful management using risk stratification.
    Fujita medical journal· 2026· PMID 41641120mais citado
  2. From multiple spleens to absence: Insights from two cases of heterotaxy syndromes.
    Radiology case reports· 2026· PMID 41542032mais citado
  3. Clarifying the Cardiovascular Morphology and Associated Abnormalities in Patients with Double Inlet Right Ventricle Using Multidetector CT Angiography.
    Pediatric cardiology· 2026· PMID 39755995mais citado
  4. Specific cardiovascular morphology on computed tomography angiography in patients with right isomerism.
    Pediatrics international : official journal of the Japan Pediatric Society· 2025· PMID 41133277mais citado
  5. Plasticity of ventricle position after heart looping in heterotaxy with right isomerism.
    Science advances· 2025· PMID 40971441mais citado
  6. Outcomes of Current Surgical Strategy for Achieving Optimal Fontan Haemodynamics in Patients With Right Isomerism.
    Eur J Cardiothorac Surg· 2025· PMID 41212514recente
  7. Aberrant fibromuscular common atrial band in right isomerism.
    BMJ Case Rep· 2025· PMID 41022415recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:97548(Orphanet)
  2. OMIM OMIM:208530(OMIM)
  3. MONDO:0008832(MONDO)
  4. GARD:6795(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q772022(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

Isomerismo auricular lado direito
Compêndio · Raras BR

Isomerismo auricular lado direito

ORPHA:97548 · MONDO:0008832
Prevalência
Unknown
Herança
Autosomal recessive
CID-10
Q20.6 · Isomerismo dos apêndices atriais
CID-11
Início
Neonatal
Prevalência
0.0 (France)
MedGen
UMLS
C3178806
EuropePMC
Wikidata
Papers 10a
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades