Uma doença genética rara, cujos sintomas geralmente aparecem porque os órgãos não estão no lugar certo dentro do peito e da barriga. Os problemas de estrutura e funcionamento que podem ocorrer incluem: defeitos no coração; o intestino estar mal posicionado, o que pode causar uma torção (chamada vólvulo); obstrução das vias biliares (canais que levam a bile); e diversos defeitos no sistema nervoso central (cérebro e medula espinhal), no sistema urinário (rins e bexiga) e nos ossos.
Introdução
O que você precisa saber de cara
A síndrome de heterotaxia é uma condição em que os órgãos internos estão dispostos de forma anormal no tórax e no abdômen. O termo “heterotaxia” vem das palavras gregas “heteros”, que significa “outro”, e “taxis”, que significa “arranjo”. Pessoas com a condição apresentam defeitos congênitos complexos que afetam o coração, os pulmões, o fígado, o baço, os intestinos e outros órgãos.
No corpo normal, a maioria dos órgãos no tórax e no abdômen tem uma localização específica no lado direito ou esquerdo. Por exemplo, o coração, o baço e o pâncreas ficam no lado esquerdo do corpo, e a maior parte do fígado está no lado direito. Essa disposição normal dos órgãos é conhecida como “situs solitus”. Raramente, a orientação dos órgãos internos é completamente invertida da direita para a esquerda, situação conhecida como “situs inversus”. Essa orientação em espelho geralmente não causa problemas de saúde, a menos que ocorra como parte de uma síndrome que afeta outras partes do corpo. A síndrome de heterotaxia é um arranjo dos órgãos internos em algum ponto entre o situs solitus e o situs inversus; essa condição também é conhecida como “situs ambiguus”. Ao contrário do situs inversus, a disposição anormal dos órgãos na síndrome de heterotaxia costuma causar problemas de saúde graves.
A síndrome de heterotaxia pode alterar a estrutura do coração, incluindo a fixação dos grandes vasos sanguíneos que transportam sangue para o resto do corpo e dele. Também pode afetar a estrutura dos pulmões, como o número de lobos em cada pulmão e o comprimento dos tubos (chamados brônquios) que conduzem o ar da traqueia para os pulmões. No abdômen, a condição pode fazer com que a pessoa não tenha baço (asplenia) ou tenha múltiplos baços pequenos e com funcionamento deficiente (polissplenia). O fígado pode ficar localizado no meio do corpo em vez de estar em sua posição normal à direita do estômago. Algumas pessoas afetadas também apresentam má rotação intestinal, que é uma torção anormal dos intestinos que ocorre nas primeiras fases do desenvolvimento antes do nascimento.
Dependendo dos órgãos envolvidos, os sinais e sintomas da síndrome de heterotaxia podem incluir uma coloração azulada da pele ou dos lábios (cianose, que ocorre devido à falta de oxigênio), dificuldades respiratórias, risco aumentado de infecções e problemas na digestão dos alimentos. As complicações mais graves são geralmente causadas por doença cardíaca congênita crítica, um grupo de defeitos cardíacos complexos presentes desde o nascimento. A atresia biliar, um problema nos ductos biliares do fígado, também pode causar sérios problemas de saúde na infância.
A gravidade da síndrome de heterotaxia varia conforme as anomalias específicas envolvidas. Algumas pessoas com a condição apresentam apenas problemas de saúde leves relacionados à condição. No outro extremo do espectro, a síndrome de heterotaxia pode ser ameaçadora à vida na infância ou na primeira infância, mesmo com tratamento.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoUma doença genética rara, cujos sintomas geralmente aparecem porque os órgãos não estão no lugar certo dentro do peito e da barriga. Os problemas de estrutura e funcionamento que podem ocorrer incluem: defeitos no coração; o intestino estar mal posicionado, o que pode causar uma torção (chamada vólvulo); obstrução das vias biliares (canais que levam a bile); e diversos defeitos no sistema nervoso central (cérebro e medula espinhal), no sistema urinário (rins e bexiga) e nos ossos.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 46 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 153 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
19 genes identificados com associação a esta condição.
Heterotaxy, visceral, 5, autosomal
An autosomal dominant form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX5 clinical features include situs inversus viscerum or situs ambiguus, congenital heart defect, transposition of the great vessels ventricular septal defect, atrial septal defect, truncus communis, and dextrocardia.
Ventricular septal defect 2
A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death.
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.
Heterotaxy, visceral, 9, autosomal, with male infertility
A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX9 is an autosomal recessive form associated with male infertility, mainly due to defective sperm motility.
Heterotaxy, visceral, 14, autosomal
A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX14 inheritance is autosomal recessive.
Heterotaxy, visceral, 13, autosomal
A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX13 inheritance is autosomal recessive.
Heterotaxy, visceral, 11, autosomal, with male infertility
A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX11 is an autosomal recessive form associated with male infertility due to reduced flagellar motility.
Heterotaxy, visceral, 10, autosomal, with male infertility
A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX10 is an autosomal recessive form associated with male infertility.
Ciliary dyskinesia, primary, 40
A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD40 inheritance is autosomal recessive.
Heterotaxy, visceral, 12, autosomal
A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. Early death may occur. HTX12 inheritance is autosomal recessive.
Heterotaxy, visceral, 4, autosomal
A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX4 clinical features include dextrocardia, right aortic arch and a right-sided spleen, anomalies of the inferior and the superior vena cava, atrial ventricular canal defect with dextro-transposed great arteries, pulmonary stenosis, polysplenia and midline liver.
Left-right axis malformations
The defect includes left pulmonary isomerism, with cardiac anomalies characterized by complete atrioventricular canal defect and hypoplastic left ventricle, and interrupted inferior vena cava.
Heterotaxy, visceral, 6, autosomal
A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX6 clinical features are situs inversus totalis and severe complex cardiac malformations including unbalanced atrioventricular canal defects, transposition of the great arteries with severe pulmonary stenosis, right aortic arch, abnormal systemic venous return and total anomalous pulmonary venous drainage.
Heterotaxy, visceral, 2, autosomal
A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations.
Heterotaxy, visceral, 8, autosomal
A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX8 inheritance is autosomal recessive.
Heterotaxy, visceral, 1, X-linked
A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations.
Variantes genéticas (ClinVar)
108 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
15 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
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Publicações mais relevantes
Heterotaxy syndrome: a rare risk factor for a pulmonary embolism in a young person.
Heterotaxy syndrome, or situs ambiguus, is a rare congenital condition characterized by abnormal left-right positioning of thoracoabdominal organs. It often includes splenic anomalies such as polysplenia and vascular malformations like interruption of the inferior vena cava (IVC) with azygos continuation. These anatomical variants can impair venous return, increasing the risk of venous thromboembolism, particularly in young patients. We present the case of an 18-year-old woman with obesity and long-term estrogen-containing oral contraceptive use who presented with acute bilateral pulmonary emboli. Initial imaging noted polysplenia, but the diagnosis of heterotaxy syndrome with IVC interruption and azygos continuation was not made until 5 months later during evaluation for recurrent chest pain. Hypercoagulable workup was negative, and anticoagulation was continued due to ongoing thrombotic risk. This case highlights heterotaxy syndrome as an underrecognized contributor to venous thromboembolism in young individuals and underscores the importance of considering anatomical risk factors in cases of unprovoked thromboembolism. Heterotaxy syndrome, particularly with polysplenia and interrupted inferior vena cava (IVC) with azygos continuation, is a rare but important anatomical risk factor for venous thromboembolism in young patients.IVC interruption can lead to impaired lower-extremity venous drainage and venous stasis, increasing the risk for deep vein thrombosis and pulmonary embolism, even in the absence of inherited thrombophilia.Heterotaxy syndrome is frequently underrecognized on initial imaging, highlighting the importance of careful review of abdominal vasculature and visceral situs in patients with unexplained thromboembolic events.Management should include long-term anticoagulation in patients with heterotaxy-associated IVC anomalies and counseling on modifiable risk factors, such as avoiding estrogen-containing contraceptives.
Primary Ciliary Dyskinesia Caused by a Heterozygous Large Deletion in DNAAF11 Accompanied by a Hemizygous Nonsense Variant: A Case Report from Japan.
We herein report a 46-year-old patient with primary ciliary dyskinesia (PCD) caused by a large deletion spanning exons 5-11 of DNAAF11 accompanied by a hemizygous nonsense variant. The PICADAR score was 14, which was based on the presence of heterotaxy, congenital heart disease, history of neonatal respiratory distress, history of neonatal intensive care unit admission, chronic sinusitis, and otitis media. In addition, the patient's nasal nitric oxide level was markedly low at 30.7 nL/min. These findings suggest that the clinical features of DNAAF11-related PCD are typical of PCD.
The prevalence of laterality defects in patients with congenital heart disease.
Congenital heart disease (CHD) affects approximately 1% of liveborn infants. Among primary ciliary dyskinesia (PCD) cases, about 50% present with situs inversus totalis, and 6.3% have heterotaxy with CHD. The incidence of CHD is significantly higher in heterotaxy patients compared to the general population (57% vs. 1%). However, comprehensive studies on CHD related to laterality defects are still limited. In this study, we retrospectively analyzed 18,781 CHD patients to determine the prevalence of laterality defects. To evaluate the association between specific complex CHD phenotypes and laterality defects, we utilized a binary logistic regression model. Additionally, we performed whole-exome sequencing (WES) on 121 CHD patients with laterality defects. The results showed that 1.1% of CHD patients had laterality defects (206/18,781), with 0.4% presenting as situs inversus totalis and 0.7% as situs ambiguus. The prevalence of laterality defects was higher in complex CHD cases (5.4%) compared to simple CHD (0.4%). Notably, single atrium with single ventricle (SA+SV) was strongly associated with laterality defects (OR = 48.23, p < 0.001). Among the 121 CHD patients with situs abnormalities, WES identified pathogenic gene variants in 13.2%, with 9.1% harboring known pathogenic genes (ZIC3, NODAL, NKX2-5, GDF1, MMP21, PKD1L1, CCDC151, DNAAF4, LRRC56) and 4.1% exhibiting variants in candidate genes (FMNL3, C1ORF127, CFAP157, C10ORF107, MYO1D). This study revealed both established and novel gene candidates, contributing to our understanding of the genetic basis of laterality defects in CHD.
Polysplenia with situs inversus totalis, azygos continuation of the inferior vena cava, and duplication of the superior vena cava in a healthy adult: A case report.
Polysplenia syndrome is an embryological disorder whereby the usual left-right asymmetry of thoracic and abdominal viscera fails to develop. It is a rare entity, estimated to occur at a frequency of 1 in 40,000, and is often associated with cardiac and biliary abnormalities. More than 75% of patients die before the age of 5 years, and even in the absence of cardiac anomalies, only 5%-10% of patients are expected to survive into adulthood without complications. Although polysplenia syndrome encompasses a wide range of anatomic abnormalities, there is no single pathognomonic feature. Hence, the prognosis of patients with polysplenia depends on their anatomy, thus necessitating radiology in their management. Here we present a case of a 56-year-old man with polysplenia syndrome and situs inversus totalis. This presentation is atypical because polysplenia is usually considered a form of situs ambiguus, and cases with situs inversus totalis are exceedingly rare. Also noted in our patient are variations in the great vessels, including aortic arch branches and the venae cavae which are features not typically associated with either polysplenia syndrome or situs inversus totalis. The patient is healthy and asymptomatic at baseline, with his diagnosis being made incidentally. Our case report is the first to describe this unique combination of cardiothoracic and cardiovascular anatomy. It also emphasizes the importance of radiologists in caring for patients with laterality defects. As these disorders are uncommon, more data on their anatomic variations may help provide better medical care to this patient population.
Human Genetics of Defects of Situs.
Defects of situs are associated with complex sets of congenital heart defects in which the normal concordance of asymmetric thoracic and abdominal organs is disturbed. The cellular and molecular mechanisms underlying the formation of the embryonic left-right axis have been investigated extensively in the past decade. This has led to the identification of mutations in at least 33 different genes in humans with heterotaxy and situs defects. Those mutations affect a broad range of molecular components, from transcription factors, signaling molecules, and chromatin modifiers to ciliary proteins. A substantial overlap of these genes is observed with genes associated with other congenital heart diseases such as tetralogy of Fallot and double-outlet right ventricle, d-transposition of the great arteries, and atrioventricular septal defects. In this chapter, we present the broad genetic heterogeneity of situs defects including recent human genomics efforts.
Publicações recentes
Heterotaxy syndrome: a rare risk factor for a pulmonary embolism in a young person.
🥉 Relato de casoPrimary Ciliary Dyskinesia Caused by a Heterozygous Large Deletion in DNAAF11 Accompanied by a Hemizygous Nonsense Variant: A Case Report from Japan.
The prevalence of laterality defects in patients with congenital heart disease.
Polysplenia with situs inversus totalis, azygos continuation of the inferior vena cava, and duplication of the superior vena cava in a healthy adult: A case report.
🥉 Relato de caso📚 EuropePMC30 artigos no totalmostrando 38
Heterotaxy syndrome: a rare risk factor for a pulmonary embolism in a young person.
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Internal medicine (Tokyo, Japan)The prevalence of laterality defects in patients with congenital heart disease.
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Advances in experimental medicine and biologyClinical Presentation and Therapy of Anomalies of the Situs.
Advances in experimental medicine and biologySitus Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia.
ChestLocally invasive cholangiocarcinoma causing gastric outlet obstruction in heterotaxy syndrome: A case report and review of literature.
Radiology case reportsSemi-Automatic Measurement of Fetal Cardiac Axis in Fetuses with Congenital Heart Disease (CHD) with Fetal Intelligent Navigation Echocardiography (FINE).
Journal of clinical medicinePrenatal CFAP53-related laterality defect: case report and review of the literature.
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European journal of radiologyAssociações
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Situs ambiguus e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
Trata-se de uma condição genética ligada ao desenvolvimento dos eixos corporais no embrião. Alterações em genes como NODAL, GDF1, CITED2 e genes ciliares como DNAH9 estão associadas ao quadro.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
6 publicações do grafo RarasNet (PubMed) · 6 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (s.d.). Situs ambiguus. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/situs-ambiguus
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Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Situs ambiguus
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Ensaios clínicos
- fonte: ClinicalTrials.gov
