Dextrocardia: heart predominantly in R hemithorax
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Chromosomal map of CHD genes and imbalances.Non syndromic associated genes overview
ACVR2B (1, 16.7%)
NODAL (5, 83.3%)
[edit] Synopsis
Dextrocardia is a congenital defect in which the heart is situated on the right side of the body. When the right-sided heart is a mirror image of the normal atrial and/or ventricular organisation, the term situs inversus is used. If the left-right patterning defects affect all thoracal and abdominal organs, the term situs inversus totalis is used. Heterotaxy or situs ambiguus should be distinguished from situs inversus totalis. Although situs inversus can occur in otherwise healthy individuals, it may also be associated with primary ciliary dyskinesia, infantile nephronophthisis and Bardet-Biedl syndrome. All these disorders share a molecular basis in dysfunction of the primary cilia (Peeters et al., 2006).
Note: not all cases of dextrocardia are associated with situs abnormalities, as a normally organized heart (situs solitus) can be simply shifted farther right in the thorax (e.g. due to external compression (e.g. left-sided diaphragmatic hernia)).
External references for Dextrocardia: heart predominantly in R hemithorax
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Genes for phenotype 02.01.02:Dextrocardia: heart predominantly in R hemithorax
Non-syndromic
| NODAL 
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- Support: likely: 2 or more patients (with CHD and a mutation in the candidate gene)
- References: PMID:19064609 (population study with screening of similar CHD patients and normal controls )
- Inheritance: Significant reductions in the biological activity of NODAL alleles are detected among patients with congenital heart defects, lateraltity anomalies, and only rarely holoprosencephaly.
- Incidence:
- Comments:
- Studies: (1)
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- Reference: PMID:19064609
- Incidence: 5/75 patients
- Comments: Mohapatra et al., 2009 screened for NODAL mutations in 269 unrelated probands with either sporadic or familial heterotaxy or heterotaxy-related congenital cardiovascular defects (75 with dextrocardia). This revealed four heterozygous missense variants, one in-frame insertion/deletion and two conserved splice site variants. One missense mutation was detected in 8 of the 82 unrelated Hispanic cases. All 14 mutation carriers presented with heterotaxy-related cardiovascular anomalies, 6 of them presented with additional abdominal situs abnormalities (one with right atrial isomerism). Transposition of the great arteries (d-TGA) was present in 10 out of the 14 mutation carriers, dextrocardia in 5 (one case with d-TGA and 2 with L-TGA (ventricular inversion)). In addition, 7 mutation carriers presented with a single ventricle, 8 with pulmonary atresia, 2 with pulmonic stenosis and 1 with a hypoplastic aortic arch. Other associated CHDs were: DORV in 3 cases, ASD type secundum in 8, AVSD in 2, common atrium in a single case and VSD in 5 cases. Vascular anomalies consisted of TAPVR in 4 cases, IVC abnormalities in 4 and left SVC in 2 cases.
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| ZIC3
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- Support: unconfirmed: a single case report
- References: PMID:14681828 (population study with screening of similar CHD patients and normal controls )
- Inheritance: X-linked heterotaxy: ZIC3 mutations are found in males with familial or sporadic heterotaxy and heterotaxy-related congenital heart defects. Some mutations were found in patients (both male and female) with sporadic non-heterotaxy congenital heart defects.
- Incidence:
- Comments:
- Studies: (1)
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- Reference: PMID:14681828
- Incidence: 1/1 patients
- Comments: Ware et al., 2004 performed mutation analysis of the ZIC3 gene in 20 familial and 145 sporadic cases of heterotaxy. In addition, the gene was sequenced in 29 patients with atrial septal or ventricular septal defects without evidence of a laterality disorder. Two nonsense and one missense mutation were identified in 3 male probands out of 20 families with familial X-linked heterotaxy. In each case, the mother of the proband was heterozygous for the mutation. Four of the 7 affected family members presented with a double-outlet right ventricle, 4 with pulmonic stenosis/atresia, 4 with transposition of the great arteries, 3 with a common atrioventricular canal, 3 with TAPVR, two with a hypoplastic left heart syndrome, two with a VSD, 1 with a right aortic arch and two with an abnormal inferior caval vein. In addition, a ZIC3 missense mutation was found in 1 girl with non-familial heterotaxy (out of 145 unrelated individuals). She presented with a L-TGA, ASD, VSD and pulmonic stenosis. Finally, one missense mutation was found in one out of 29 non-heterotaxy patients. This patient presented with an ASD and a pulmonic stenosis.
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Syndromic
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Regions for phenotype 02.01.02:Dextrocardia: heart predominantly in R hemithorax
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Translocations 02.01.02:Dextrocardia: heart predominantly in R hemithorax
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OMIM |
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| chr6:109467122-109467521
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PMID:12607115 (population study with screening of similar CHD patients and normal controls )
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OMIM:
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Karyotype: 46,XX t(6,18)(q21;q21)
heterotaxia
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Patients reports for 02.01.02:Dextrocardia: heart predominantly in R hemithorax
Automated text-mining genes found for 02.01.02:Dextrocardia: heart predominantly in R hemithorax
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This page contributors
- Jeroen Breckpot - CME Leuven (Belgium) (association, mutation, study, Free text)
- Sylvain Brohée - Katholieke Universiteit Leuven (Belgium) (Free text)
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