ventricular septal defect type 2

ventricular septal defect type 2

A common congenital heart malformation (OMIM:614431) which may occur alone or in combination with other cardiac malformations, affecting any part of the ventricular septum. If severe, interventricular defects can lead to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger syndrome, delayed foetal brain development, arrhythmias, and sudden cardiac death.
 
Classification
Perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect.

Molecular pathology
Defects in CITED2, which encodes a transcriptional coactivator of the p300/CBP-mediated trancription complex, cause VSD2.

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