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
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.
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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
+ 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.
Essential for mesoderm formation and axial patterning during embryonic development
Secreted
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.
Possesses an intrinsic kinase activity (PubMed:24807905, PubMed:34764205). Phosphorylates GSK3B at 'Ser-9', leading to the activation of Wnt/beta-catenin signaling (PubMed:34764205). Additionally, exhibits a 3'-5'-DNA exonuclease activity that removes single nucleotides from the 3' terminus of single-stranded DNA substrates and digests overhanging mismatched 3' termini from double-stranded DNA substrates, possibly participating in DNA nucleolytic processing (PubMed:16313181). In vitro, does not
Cytoplasm, cytoskeleton, microtubule organizing center, centrosomeNucleusCytoplasmCytoplasm, cytoskeleton, spindleCytoplasm, cytoskeleton, cilium axonemeCytoplasm, cytoskeleton, flagellum axonemeCell projection, ciliumCytoplasm, cytoskeleton, cilium basal body
Transcriptional coactivator of the p300/CBP-mediated transcription complex. Acts as a bridge, linking TFAP2 transcription factors and the p300/CBP transcriptional coactivator complex in order to stimulate TFAP2-mediated transcriptional activation. Positively regulates TGF-beta signaling through its association with the SMAD/p300/CBP-mediated transcriptional coactivator complex. Stimulates the peroxisome proliferator-activated receptors PPARA transcriptional activity. Enhances estrogen-dependent
Nucleus
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.
May be involved in vasopressin signaling in the kidney
Cell projection, ciliumCytoplasm
May mediate cell differentiation events during embryonic development
Secreted
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.
Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). May play a role in the control of meiotic division and germ cell differentiation through regulation of pairing and recombination during meiosis. Required for sperm flagella assembly (By similarity). May play a role in the assembly and function of the outer dynein arm-docking complex (ODA-DC). ODA-DC mediates outer dynein arms (OD
NucleusCytoplasm, cytoskeleton, cilium axonemeCytoplasm, cytoskeleton, flagellum axoneme
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.
Plays a role in left-right patterning process
Secreted
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.
Antagonist of the extracellular signaling protein NODAL, which is required for correct left-right patterning during embryonic development (By similarity). Antagonist of BMP and TGF-beta signaling (PubMed:33587337). Independently of its role in left-right axis establishment, plays a role during heart development, possibly through the regulation of TGF-beta/Nodal signaling pathway (By similarity). Displays anti-angiogenic activity by inhibiting endothelial sprouting, migration, and proliferation.
Secreted
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.
Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). It is an AMP-binding protein that may facilitate dynein ATPase-dependent ciliary and flagellar beating via adenine nucleotide homeostasis. May function as a donor of AMP to AK8 and hence promote ADP production (PubMed:33139725)
Cytoplasm, cytoskeleton, cilium axonemeCytoplasm, cytoskeleton, flagellum axonemeCell projection, ciliumCell projection, cilium, flagellum
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.
Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme (PubMed:36191189). Important for proper ciliary and flagellar beating. May act in cooperation with CFAP45 and axonemal dynein subunit DNAH11 (PubMed:33139725). May play a role in cell growth and/or survival (PubMed:15967112)
CytoplasmCytoplasm, cytoskeleton, cilium axonemeCytoplasm, cytoskeleton, flagellum axoneme
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.
Force generating protein required for cilia beating in respiratory epithelia (PubMed:30471717, PubMed:30471718). Produces force towards the minus ends of microtubules (PubMed:30471717, PubMed:30471718). Key component of dynein, a family of motor proteins essential for movement along microtubules (By similarity). Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP (PubMed:30471717, PubMed:30471718). Required for structural and functional integrity of
Cytoplasm, cytoskeleton, cilium axonemeCell projection, cilium, flagellum
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.
Putative metalloproteinase that plays a role in left-right patterning process
Membrane
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.
Transmembrane serine/threonine kinase activin type-2 receptor forming an activin receptor complex with activin type-1 serine/threonine kinase receptors (ACVR1, ACVR1B or ACVR1c). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production,
Cell membrane
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.
Required for left-right (L-R) asymmetry determination of organ systems in mammals. May play a role in endometrial bleeding
Secreted
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.
Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). Regulates motility patterns of both 9+0 and 9+2 motile cilia through differential localization and recruitment of axonemal dynein components (By similarity). Required for centriolar satellite integrity and non-motile cilium assembly (PubMed:26538025). Required for motile cilium formation (PubMed:26538025). Through its role in the
Cytoplasm, cytoskeleton, cilium axonemeCytoplasm, cytoskeleton, flagellum axonemeCytoplasm, cytoskeleton, microtubule organizing center, centrosome, centrioleCytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satelliteCytoplasm, cytoskeleton, spindle poleCytoplasm, cytoskeletonCell projection, cilium
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.
NODAL coreceptor involved in the correct establishment of the left-right axis. May play a role in mesoderm and/or neural patterning during gastrulation
Cell membraneSecreted
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.
Component of a calcium-permeant ion channel formed by PKD1L2 and PKD1L1 in primary cilia, where it controls cilium calcium concentration, without affecting cytoplasmic calcium concentration, and regulates sonic hedgehog/SHH signaling and GLI2 transcription (PubMed:24336289). The PKD1L1:PKD2L1 channel complex is mechanosensitive only at high pressures and is highly temperature sensitive (PubMed:24336289). Also involved in left/right axis specification downstream of nodal flow by forming a complex
Cell projection, cilium membrane
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.
Acts as a transcriptional activator. Required in the earliest stages in both axial midline development and left-right (LR) asymmetry specification. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'
NucleusCytoplasm
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.
Protease. May regulate the surface expression of some potassium channels by retaining them in the endoplasmic reticulum (By similarity)
Endoplasmic reticulum membraneMembrane
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)
🇧🇷 Atendimento SUS — Situs ambiguus
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
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.
Proceedings (Baylor University. Medical Center)Primary Ciliary Dyskinesia Caused by a Heterozygous Large Deletion in DNAAF11 Accompanied by a Hemizygous Nonsense Variant: A Case Report from Japan.
Internal medicine (Tokyo, Japan)The prevalence of laterality defects in patients with congenital heart disease.
Journal of human geneticsPolysplenia 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.
Radiology case reportsHuman Genetics of Defects of Situs.
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.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansLaterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype.
Annals of the American Thoracic SocietyIncidental finding of situs ambiguus in a middle-aged woman.
Respirology case reportsA Rare Case of Polysplenia Syndrome Associated with Severe Cardiac Malformations and Congenital Alveolar Dysplasia in a One-Month-Old Infant: A Complete Macroscopic and Histopathologic Study.
Journal of cardiovascular development and diseaseIncidental Finding of Heterotaxy Syndrome in a Patient With Pulmonary Embolism: A Case Report and Concise Review.
CureusGoing beyond the chest X-ray: Investigating laterality defects in primary ciliary dyskinesia.
Pediatric pulmonologySecundum Atrial Septal Defect Closure via the Transhepatic Approach in a Patient With Situs Ambiguus and a Left-Sided Inferior Vena Cava.
Journal of investigative medicine high impact case reportsHistopathological assessment of laterality defects in zebrafish development.
Animal cells and systemsHuman Laterality Disorders: Pathogenesis, Clinical Manifestations, Diagnosis, and Management.
The American journal of the medical sciencesPacemaker implantation for sick sinus syndrome in a pregnant female with situs ambiguus and polysplenia.
Journal of arrhythmiaLateral Heterotaxy Syndrome in a Newborn Caucasian Male.
Cureus3D visualization and 3D printing in abnormal gastrointestinal system manifestations of situs ambiguus.
Quantitative imaging in medicine and surgeryPhenotypic features of ciliary dyskinesia among patients with congenital cardiovascular malformations.
Pediatric pulmonologyThe Spectrum of Cardiac Anomalies Associated with Heterotaxy: A Single-Center Study of a Large Series Based on Computed Tomography.
Pediatric cardiologyHeterotaxy Polysplenia Syndrome in Adulthood: Focused Review and a Case Report.
CureusNeonatal Assessment of Infants with Heterotaxy.
Clinics in perinatologyRandomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice.
Circulation. Genomic and precision medicineComparison of Morphologic Findings in Patients with Dextrocardia with Situs Solitus vs Situs Inversus: a Retrospective Study.
Pediatric cardiologyPrimary Ciliary Dyskinesia and Situs Ambiguus: A Rare Association.
International journal of applied & basic medical researchIs an Appreciation of Isomerism the Key to Unlocking the Mysteries of the Cardiac Findings in Heterotaxy?
Journal of cardiovascular development and diseaseVertebrate Left-Right Asymmetry: What Can Nodal Cascade Gene Expression Patterns Tell Us?
Journal of cardiovascular development and diseaseThe Role of Cerl2 in the Establishment of Left-Right Asymmetries during Axis Formation and Heart Development.
Journal of cardiovascular development and diseaseRuptured Sinus of Valsalva Aneurysm Associated with Situs Ambiguus, Isolated Levocardia, and Polysplenia.
Texas Heart Institute journalPolysplenia syndrome with duodenal and pancreatic dysplasia in a Holstein calf: a case report.
BMC veterinary researchIsomerism in the setting of the so-called "heterotaxy": The usefulness of computed tomographic analysis.
Annals of pediatric cardiologyWhat Determines Whether the Great Arteries Are Normally or Abnormally Related?
The American journal of cardiologyIntestinal malrotation in patients with situs anomaly: Implication of the relative positions of the superior mesenteric artery and vein.
European journal of radiologyBi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
American journal of human geneticsComparison of situs ambiguous patterns between heterotaxy syndromes with polysplenia and asplenia.
European journal of radiologyAssociações
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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.
- Heterotaxy syndrome: a rare risk factor for a pulmonary embolism in a young person.
- Primary 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.
- Human Genetics of Defects of Situs.
- Midgut Malrotation.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:157769(Orphanet)
- MONDO:0018677(MONDO)
- GARD:10875(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q203115(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
