DO: 1657;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 6q24.1 | Ventricular septal defect 2 | 614431 | Autosomal dominant | 3 | CITED2 | 602937 |
A number sign (#) is used with this entry because of evidence that ventricular septal defect-2 (VSD2) can be caused by heterozygous mutation in the CITED2 gene (602937) on chromosome 6q24.
Ventricular septal defect (VSD) is the most common form of congenital cardiovascular anomaly, occurring in nearly 50% of all infants with a congenital heart defect and accounting for 14% to 16% of cardiac defects that require invasive treatment within the first year of life. Congenital VSDs may occur alone or in combination with other cardiac malformations. Large VSDs 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 (summary by Wang et al. (2011, 2011)).
For a discussion of genetic heterogeneity of ventricular septal defect, see VSD1 (614429).
Sperling et al. (2005) screened a cohort of 392 patients with congenital heart defects for mutations in the CITED2 gene (602937) and identified a 27-bp deletion in a patient with a perimembranous ventricular septal defect. The mutation, which was not found in 192 controls, resulted in significant loss of HIF1A (603348) transcriptional repressive capacity and significantly diminished TFAP2C (601602) coactivation.
Sperling, S., Grimm, C. H., Dunkel, I., Mebus, S., Sperling, H.-P., Ebner, A., Galli, R., Lehrach, H., Fusch, C., Berger, F., Hammer, S. Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. Hum. Mutat. 26: 575-582, 2005. [PubMed: 16287139] [Full Text: https://doi.org/10.1002/humu.20262]
Wang, J., Fang, M., Liu, X.-Y., Xin, Y.-F., Liu, Z.-M., Chen, X.-Z., Wang, X.-Z., Fang, W.-Y., Liu, X., Yang, Y.-Q. A novel GATA4 mutation responsible for congenital ventricular septal defects. Int. J. Molec. Med.. 28: 557-564, 2011. [PubMed: 21637914] [Full Text: https://doi.org/10.3892/ijmm.2011.715]
Wang, J., Xin, Y.-F., Liu, X.-Y., Liu, Z.-M., Wang, X.-Z., Yang, Y.-Q. A novel NKX2-5 mutation in familial ventricular septal defect. Int. J. Molec. Med. 27: 369-375, 2011. [PubMed: 21165553] [Full Text: https://doi.org/10.3892/ijmm.2010.585]