Right Atrial Isomerism (RAI)

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OMIM 57 208530 Disease Ontology 12 DOID:0060856 ICD10 33 Q20.6 Orphanet 59 ORPHA97548 UMLS via Orphanet 74 C0175707

ICD10 via Orphanet 34 Q20.6 MedGen 42 C3178806 C0175707 C0265357 C1876171 C1876172 C1876173 more MeSH 44 D059446 SNOMED-CT via HPO 69 258211005 5102002 253549006 30288003 253366007 405752007 70142008 56786000 253414002 14821001 24614000 27317008 43876007 702624008 707147002 93030006 45503006 91842005 10930001 204443008 111323005 39905002 68237008 253276007 274947007 95268002 253402005 82458004 204362007 more UMLS 73 C3178806 C0175707 C0600031

OMIM : ⁵⁷ Right atrial isomerism is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. Left atrial isomerism (LAI) is a related disorder with a somewhat better prognosis. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by Eronen et al., 2004 and Kaasinen et al., 2010). (208530)

MalaCards based summary : Right Atrial Isomerism, also known as ivemark syndrome, is related to visceral heterotaxy and duane-radial ray syndrome. An important gene associated with Right Atrial Isomerism is GDF1 (Growth Differentiation Factor 1), and among its related pathways/superpathways is Signaling by NODAL. Affiliated tissues include lung, heart and liver, and related phenotypes are agenesis of corpus callosum and atrial septal defect

Disease Ontology : ¹² A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.

NIH Rare Diseases : ⁵³ Ivemark syndromeis a rare congenital condition that affects multiple organ systems of the body. Ivemark syndrome is classified as a heterotaxy disorder or a laterality disorder. These terms refer to the failure of the internal organs of the chest and abdomen to be arranged in the proper location within the body. It is characterized by the absence (asplenia) or underdevelopment (hypoplasia) of the spleen, heart malformations, and the abnormal arrangement of the internal organs of the chest and abdomen. Symptoms vary greatly depending on the specific abnormalities present; however if heart malformations are complex, the prognosis is often poor. The exact cause of Ivemark syndrome is not known. Most cases are sporadic (isolated and seemingly random). Unlike some other heterotaxy disorders, causative genemutations have not been identified. There is no cure for Ivemark syndrome. Treatment might include surgical repair of heart malformations when appropriate and prophylacticantibiotic therapy to reduce the incidence of infection due to the absence or poor function of the spleen.

UniProtKB/Swiss-Prot : ⁷⁵ Right atrial isomerism: A severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs.

Wikipedia : ⁷⁶ Asplenia with cardiovascular anomalies, also known as Ivemark syndrome and right atrial isomerism, is an... more...

Clinical features from OMIM:

208530

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Search GEO for disease gene expression data for Right Atrial Isomerism.