Ventricular Septal Defect 2

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OMIM 57 614431 MedGen 42 C3280783 MeSH 44 D006345

SNOMED-CT via HPO 69 263681008 109428005 UMLS 73 C3280783

OMIM : ⁵⁷ 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 2,3:Wang et al., 2011, 2011). For a discussion of genetic heterogeneity of ventricular septal defect, see VSD1 (614429). (614431)

MalaCards based summary : Ventricular Septal Defect 2, is also known as vsd2. An important gene associated with Ventricular Septal Defect 2 is CITED2 (Cbp/P300 Interacting Transactivator With Glu/Asp Rich Carboxy-Terminal Domain 2). Affiliated tissues include fetal brain, heart and brain, and related phenotype is perimembranous ventricular septal defect.

UniProtKB/Swiss-Prot : ⁷⁵ Ventricular septal defect 2: A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects 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.

Clinical features from OMIM:

614431

Search Clinical Trials , NIH Clinical Center for Ventricular Septal Defect 2

Search GEO for disease gene expression data for Ventricular Septal Defect 2.