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Common atrium

MedGen UID:
488886
Concept ID:
C0392482
Congenital Abnormality
Synonyms: Absence of interatrial septum; Single atrium
SNOMED CT: Congenital absence of atrial septum (253276007); Common atrium (253276007); Cor triloculare biventriculare (253276007)
 
HPO: HP:0011565

Definition

Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections. [from HPO]

Conditions with this feature

Ellis-van Creveld syndrome
MedGen UID:
8584
Concept ID:
C0013903
Disease or Syndrome
Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital cardiac defects, most commonly a defect of primary atrial septation producing a common atrium, occur in 60% of affected individuals (summary by Ruiz-Perez et al., 2000). The clinical features of the Ellis-van Creveld syndrome appear to be identical regardless of whether the disorder is caused by mutation in the EVC gene (604831) or in the EVC2 gene (607261) (Ruiz-Perez et al., 2003, Galdzicka et al., 2002).
Meacham syndrome
MedGen UID:
373234
Concept ID:
C1837026
Disease or Syndrome
WT1 disorder is characterized by congenital/infantile or childhood onset of steroid-resistant nephrotic syndrome (SRNS), a progressive glomerulopathy that does not respond to standard steroid therapy. Additional common findings can include disorders of testicular development (with or without abnormalities of the external genitalia and/or müllerian structures) and Wilms tumor. Less common findings are congenital anomalies of the kidney and urinary tract (CAKUT) and gonadoblastoma. While various combinations of renal and other findings associated with a WT1 pathogenic variant were designated as certain syndromes in the past, those designations are now recognized to be part of a phenotypic continuum and are no longer clinically helpful.
Heterotaxy, visceral, 1, X-linked
MedGen UID:
336609
Concept ID:
C1844020
Disease or Syndrome
Heterotaxy Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by 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 (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart Defects Congenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). Reviews Obler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral Heterotaxy See also HTX2 (605376), caused by mutation in the CFC1 gene (605194) on chromosome 2q21; HTX3 (606325), which maps to chromosome 6q21; HTX4 (613751), caused by mutation in the ACVR2B gene (602730) on chromosome 3p22; HTX5 (270100), caused by mutation in the NODAL gene (601265) on chromosome 10q22; HTX6 (614779), caused by mutation in the CCDC11 gene (614759) on chromosome 18q21; HTX7 (616749), caused by mutation in the MMP21 gene (608416) on chromosome 10q26; HTX8 (617205), caused by mutation in the PKD1L1 gene (609721) on chromosome 7p12; HTX9 (618948), caused by mutation in the MNS1 gene (610766) on chromosome 15q21; HTX10 (619607), caused by mutation in the CFAP52 gene (609804) on chromosome 17p13; HTX11 (619608), caused by mutation in the CFAP45 gene (605152) on chromosome 1q23; and HTX12 (619702), caused by mutation in the CIROP gene (619703) on chromosome 14q11. Genetic Heterogeneity of Multiple Types of Congenital Heart Defects An X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (614980) is caused by mutation in the TAB2 gene (605101) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3; 614954) has been mapped to chromosome 9q31. CHTD4 (615779) is caused by mutation in the NR2F2 gene (107773) on chromosome 15q26. CHTD5 (617912) is caused by mutation in the GATA5 gene (611496) on chromosome 20q13. CHTD6 (613854) is caused by mutation in the GDF1 gene (602880) on chromosome 19p13. CHTD7 (618780) is caused by mutation in the FLT4 gene (136352) on chromosome 5q35. CHTD8 (619657) is caused by mutation in the SMAD2 gene (601366) on chromosome 18q21. CHTD9 (620294) is caused by mutation in the PLXND1 gene (604282) on chromosome 3q22.
Faciocardiomelic syndrome
MedGen UID:
436265
Concept ID:
C2674798
Disease or Syndrome
Heterotaxy, visceral, 4, autosomal
MedGen UID:
462407
Concept ID:
C3151057
Disease or Syndrome
Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by 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 (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).
Right atrial isomerism
MedGen UID:
465274
Concept ID:
C3178806
Congenital Abnormality
Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.
Heterotaxy, visceral, 6, autosomal
MedGen UID:
766590
Concept ID:
C3553676
Disease or Syndrome
Visceral heterotaxy-6 (HTX6) is characterized by dextrocardia with or without accompanying complex cardiovascular defects, as well as variable manifestations of visceral heterotaxy, including situs inversus totalis (Perles et al., 2012).
Heterotaxy, visceral, 7, autosomal
MedGen UID:
902629
Concept ID:
C4225217
Disease or Syndrome
Autosomal visceral heterotaxy-7 is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).
Cardioacrofacial dysplasia 2
MedGen UID:
1731253
Concept ID:
C5436886
Disease or Syndrome
Cardioacrofacial dysplasia-2 (CAFD2) is characterized by congenital cardiac defects, primarily common atrium or atrioventricular septal defect; limb anomalies, including short limbs, brachydactyly, and postaxial polydactyly; and dysmorphic facial features. Developmental delay of variable severity has also been observed (Palencia-Campos et al., 2020). For a discussion of genetic heterogeneity of CAFD, see CAFD1 (619142).
Biliary, renal, neurologic, and skeletal syndrome
MedGen UID:
1794200
Concept ID:
C5561990
Disease or Syndrome
Biliary, renal, neurologic, and skeletal syndrome (BRENS) is an autosomal recessive complex ciliopathy with multisystemic manifestations. The most common presentation is severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis. Most patients have additional clinical features suggestive of a ciliopathy, including postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features of the syndrome may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development (summary by Shaheen et al., 2020 and David et al., 2020).
Heterotaxy, visceral, 12, autosomal
MedGen UID:
1803695
Concept ID:
C5676898
Congenital Abnormality
Visceral heterotaxy-12 (HTX12) is an embryonic developmental disorder characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects. The phenotype is highly variable, ranging from complete organ reversal (situs inversus totalis) to selective misarrangement of organs (situs ambiguus) such as the liver, spleen, and pancreas. The disorder is often associated with dextrocardia or variable complex congenital heart defects. Early death may occur in the most severe cases (summary by Szenker-Ravi et al., 2022). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).
Ciliary dyskinesia, primary, 53
MedGen UID:
1851509
Concept ID:
C5882728
Disease or Syndrome
Primary ciliary dyskinesia-53 (CILD53) is an autosomal recessive disorder characterized by randomization of the left-right body asymmetry and respiratory symptoms (Hjeij et al., 2023).

Professional guidelines

PubMed

Kobayashi T, Pugliese S, Sethi SS, Parikh SA, Goldberg J, Alkhafan F, Vitarello C, Rosenfield K, Lookstein R, Keeling B, Klein A, Gibson CM, Glassmoyer L, Khandhar S, Secemsky E, Giri J
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Recent clinical studies

Etiology

Sevgin B, Coban MN, Karatas F, Pekkan K
J Vis Exp 2023 Jun 16;(196) doi: 10.3791/65330. PMID: 37395593
Onan B, Onan IS
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Gazit AZ, Petrucci O, Manning P, Shepard M, Baltagi S, Simpson K, Castleberry C, Canter C, Eghtesady P
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Ali MA, Tazmin T, Latif T, Haque SA, Hossain MA, Islam MN, Khan RH, Hoque MA
Mymensingh Med J 2016 Jan;25(1):153-7. PMID: 26931266

Diagnosis

Onan B, Onan IS
Ann Thorac Surg 2021 Dec;112(6):2020-2027. Epub 2020 Nov 21 doi: 10.1016/j.athoracsur.2020.10.028. PMID: 33232727
Ilian A, Motoc A, Balulescu L, Secosan C, Grigoras D, Pirtea L
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Am J Hum Genet 2020 Nov 5;107(5):977-988. Epub 2020 Oct 14 doi: 10.1016/j.ajhg.2020.09.005. PMID: 33058759Free PMC Article
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Therapy

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Prognosis

Sevgin B, Coban MN, Karatas F, Pekkan K
J Vis Exp 2023 Jun 16;(196) doi: 10.3791/65330. PMID: 37395593
Onan B, Onan IS
Ann Thorac Surg 2021 Dec;112(6):2020-2027. Epub 2020 Nov 21 doi: 10.1016/j.athoracsur.2020.10.028. PMID: 33232727
Nwafor IA, Arua OA, Eze JC, Ezemba N, Nwafor MN
Cardiol Young 2018 Nov;28(11):1289-1294. Epub 2018 Aug 2 doi: 10.1017/S1047951118001269. PMID: 30070188
Gazit AZ, Petrucci O, Manning P, Shepard M, Baltagi S, Simpson K, Castleberry C, Canter C, Eghtesady P
Ann Thorac Surg 2017 Nov;104(5):1630-1636. Epub 2017 Jul 15 doi: 10.1016/j.athoracsur.2017.04.023. PMID: 28720202
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Clinical prediction guides

Poelmann RE, Jongbloed MRM, DeRuiter MC
Adv Exp Med Biol 2024;1441:599-614. doi: 10.1007/978-3-031-44087-8_34. PMID: 38884736
Sevgin B, Coban MN, Karatas F, Pekkan K
J Vis Exp 2023 Jun 16;(196) doi: 10.3791/65330. PMID: 37395593
Palencia-Campos A, Aoto PC, Machal EMF, Rivera-Barahona A, Soto-Bielicka P, Bertinetti D, Baker B, Vu L, Piceci-Sparascio F, Torrente I, Boudin E, Peeters S, Van Hul W, Huber C, Bonneau D, Hildebrand MS, Coleman M, Bahlo M, Bennett MF, Schneider AL, Scheffer IE, Kibæk M, Kristiansen BS, Issa MY, Mehrez MI, Ismail S, Tenorio J, Li G, Skålhegg BS, Otaify GA, Temtamy S, Aglan M, Jønch AE, De Luca A, Mortier G, Cormier-Daire V, Ziegler A, Wallis M, Lapunzina P, Herberg FW, Taylor SS, Ruiz-Perez VL
Am J Hum Genet 2020 Nov 5;107(5):977-988. Epub 2020 Oct 14 doi: 10.1016/j.ajhg.2020.09.005. PMID: 33058759Free PMC Article
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