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Right atrial isomerism(RAI)

MedGen UID:
465274
Concept ID:
C3178806
Congenital Abnormality
Synonym: RAI
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): GDF1 (19p13.11)
 
HPO: HP:0011536
Monarch Initiative: MONDO:0008832
OMIM®: 208530
Orphanet: ORPHA97548

Definition

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. [from HPO]

Clinical features

From HPO
Dextrocardia
MedGen UID:
4255
Concept ID:
C0011813
Congenital Abnormality
The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.
Atrial septal defect
MedGen UID:
6753
Concept ID:
C0018817
Congenital Abnormality
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Tetralogy of Fallot
MedGen UID:
21498
Concept ID:
C0039685
Congenital Abnormality
People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nCritical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.
Transposition of the great arteries
MedGen UID:
21245
Concept ID:
C0040761
Congenital Abnormality
Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.\n\nPeople with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.
Single ventricle
MedGen UID:
56289
Concept ID:
C0152424
Congenital Abnormality
The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.
Complete atrioventricular canal
MedGen UID:
65132
Concept ID:
C0221215
Congenital Abnormality
A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.
Pulmonary artery atresia
MedGen UID:
82723
Concept ID:
C0265908
Congenital Abnormality
A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.
Common atrium
MedGen UID:
488886
Concept ID:
C0392482
Congenital Abnormality
Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.
Pulmonic stenosis
MedGen UID:
408291
Concept ID:
C1956257
Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
Situs inversus totalis
MedGen UID:
1642262
Concept ID:
C4551493
Congenital Abnormality
A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs.
Congenital total pulmonary venous return anomaly
MedGen UID:
1648157
Concept ID:
C4551903
Disease or Syndrome
Total anomalous pulmonary venous return (TAPVR) is a cyanotic form of congenital heart defect in which the pulmonary veins fail to enter the left atrium and instead drain into the right atrium or one of the venous tributaries (summary by Bleyl et al., 1994).
Aortopulmonary collateral arteries
MedGen UID:
1633176
Concept ID:
C4703564
Anatomical Abnormality
Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus.
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.
Abdominal situs ambiguus
MedGen UID:
1622585
Concept ID:
C4531036
Anatomical Abnormality
An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements.
Corpus callosum, agenesis of
MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Abnormal lung lobation
MedGen UID:
195782
Concept ID:
C0685695
Congenital Abnormality
A developmental defect in the formation of pulmonary lobes.
Asplenia
MedGen UID:
108652
Concept ID:
C0600031
Congenital Abnormality
Absence (aplasia) of the spleen.
Polysplenia
MedGen UID:
383959
Concept ID:
C1856659
Congenital Abnormality
Polysplenia is a congenital disease manifested by multiple small accessory spleens.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRight atrial isomerism

Conditions with this feature

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.
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, 5, autosomal
MedGen UID:
501198
Concept ID:
C3495537
Congenital Abnormality
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 genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).

Professional guidelines

PubMed

Li TG, Ma B, Gao YH, Zhang RH, Li PL, Da ZQ
Echocardiography 2022 Oct;39(10):1269-1275. Epub 2022 Sep 13 doi: 10.1111/echo.15429. PMID: 36100867
Akalın M, Demirci O, Kumru P, Yücel İK
Prenat Diagn 2022 Apr;42(4):435-446. Epub 2022 Feb 4 doi: 10.1002/pd.6110. PMID: 35102577
Yun TJ, Al-Radi OO, Adatia I, Caldarone CA, Coles JG, Williams WG, Smallhorn J, Van Arsdell GS
J Thorac Cardiovasc Surg 2006 May;131(5):1108-13. Epub 2006 Apr 21 doi: 10.1016/j.jtcvs.2005.11.036. PMID: 16678597

Recent clinical studies

Etiology

Ishidou M, Hirose K, Ikai A, Sakamoto K
Asian Cardiovasc Thorac Ann 2022 Jun;30(5):540-548. Epub 2021 Sep 15 doi: 10.1177/02184923211045216. PMID: 34524926
Fotaki A, Doughty VL, Banya W, Giuliani S, Bradley S, Carvalho JS
Cardiol Young 2022 Jul;32(7):1053-1060. Epub 2021 Sep 2 doi: 10.1017/S1047951121003620. PMID: 34470692
Ortega-Zhindón DB, Calderón-Colmenero J, García-Montes JA, Sandoval JP, Minakata-Quiroga MA, Cervantes-Salazar JL
J Card Surg 2021 Dec;36(12):4476-4484. Epub 2021 Sep 7 doi: 10.1111/jocs.15982. PMID: 34494321
Ozawa Y, Asakai H, Shiraga K, Shindo T, Hirata Y, Hirata Y, Inuzuka R
Pediatr Cardiol 2019 Jun;40(5):909-913. Epub 2019 Mar 14 doi: 10.1007/s00246-019-02087-2. PMID: 30877320
Arch Dis Child 2002 Apr;86(4):301. doi: 10.1136/adc.86.4.301. PMID: 11919113Free PMC Article

Diagnosis

Akalın M, Demirci O, Kumru P, Yücel İK
Prenat Diagn 2022 Apr;42(4):435-446. Epub 2022 Feb 4 doi: 10.1002/pd.6110. PMID: 35102577
Fotaki A, Doughty VL, Banya W, Giuliani S, Bradley S, Carvalho JS
Cardiol Young 2022 Jul;32(7):1053-1060. Epub 2021 Sep 2 doi: 10.1017/S1047951121003620. PMID: 34470692
Ortega-Zhindón DB, Calderón-Colmenero J, García-Montes JA, Sandoval JP, Minakata-Quiroga MA, Cervantes-Salazar JL
J Card Surg 2021 Dec;36(12):4476-4484. Epub 2021 Sep 7 doi: 10.1111/jocs.15982. PMID: 34494321
Mawad W, Dutil N, Thakur V
Cardiol Young 2021 Feb;31(2):303-305. Epub 2020 Nov 26 doi: 10.1017/S1047951120003649. PMID: 33239120
Masiwal P, Chenthil KS, Priyadarsini B, Gnanaprakasam J, Srihari I
J Assoc Physicians India 2016 May;64(5):73-75. PMID: 27735157

Therapy

Ishidou M, Hirose K, Ikai A, Sakamoto K
Asian Cardiovasc Thorac Ann 2022 Jun;30(5):540-548. Epub 2021 Sep 15 doi: 10.1177/02184923211045216. PMID: 34524926
Kugo Y, Iwai S, Ishimaru K, Yamauchi S, Hasegawa M, Miwa K, Kawata H
Gen Thorac Cardiovasc Surg 2020 Sep;68(9):969-974. Epub 2020 Feb 8 doi: 10.1007/s11748-020-01316-3. PMID: 32036565
Kitano M, Hoashi T, Kakuta T, Fujimoto K, Miyake A, Kurosaki KI, Ichikawa H, Shiraishi I
Pediatr Cardiol 2018 Oct;39(7):1355-1365. Epub 2018 May 18 doi: 10.1007/s00246-018-1902-z. PMID: 29777280
Bhaskar J, Galati JC, Brooks P, Oppido G, Konstantinov IE, Brizard CP, d'Udekem Y
J Thorac Cardiovasc Surg 2015 Jun;149(6):1509-13. Epub 2015 Jan 24 doi: 10.1016/j.jtcvs.2015.01.038. PMID: 25752370
Wu MH, Wang JK, Lin JL, Lai LP, Lue HC, Young ML, Hsieh FJ
J Am Coll Cardiol 1998 Sep;32(3):773-9. doi: 10.1016/s0735-1097(98)00307-6. PMID: 9741526

Prognosis

Akalın M, Demirci O, Kumru P, Yücel İK
Prenat Diagn 2022 Apr;42(4):435-446. Epub 2022 Feb 4 doi: 10.1002/pd.6110. PMID: 35102577
Niu MC, Dickerson HA, Moore JA, de la Uz C, Valdés SO, Kim JJ, Bard DE, Morris SA, Miyake CY
Heart Rhythm 2018 Apr;15(4):548-554. Epub 2017 Dec 8 doi: 10.1016/j.hrthm.2017.11.013. PMID: 29154821
Eronen MP, Aittomäki KA, Kajantie EO, Sairanen HI, Pesonen EJ
Pediatr Cardiol 2013 Feb;34(2):302-7. Epub 2012 Aug 12 doi: 10.1007/s00246-012-0445-y. PMID: 22886362
Arch Dis Child 2002 Apr;86(4):301. doi: 10.1136/adc.86.4.301. PMID: 11919113Free PMC Article
Sadiq M, Stümper O, De Giovanni JV, Wright JG, Sethia B, Brawn WJ, Silove ED
Heart 1996 Mar;75(3):314-9. doi: 10.1136/hrt.75.3.314. PMID: 8801000Free PMC Article

Clinical prediction guides

Wu MH, Wang JK, Chiu SN, Tseng WC, Lu CW, Lin HC, Lin MT, Chen CA
Heart Rhythm 2021 Apr;18(4):605-612. Epub 2020 Dec 13 doi: 10.1016/j.hrthm.2020.12.012. PMID: 33321198
Vigneswaran TV, Jones CB, Zidere V, Charakida M, Miller OI, Simpson JM, Sharland GK
Am J Cardiol 2018 Aug 15;122(4):663-671. Epub 2018 Jun 20 doi: 10.1016/j.amjcard.2018.04.040. PMID: 29954599
Spadotto V, Frescura C, Ho SY, Thiene G
Cardiovasc Pathol 2017 Jan-Feb;26:39-44. Epub 2016 Sep 25 doi: 10.1016/j.carpath.2016.09.003. PMID: 27866077
Bhaskar J, Galati JC, Brooks P, Oppido G, Konstantinov IE, Brizard CP, d'Udekem Y
J Thorac Cardiovasc Surg 2015 Jun;149(6):1509-13. Epub 2015 Jan 24 doi: 10.1016/j.jtcvs.2015.01.038. PMID: 25752370
Yan YL, Tan KB, Yeo GS
Ann Acad Med Singap 2008 Nov;37(11):906-12. PMID: 19082194

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