Osteogenesis Imperfecta Type II with Congenital Heart Disease

Abstract

Objective: Osteogenesis imperfect (OI) is an inherited disorder of type1 collagen synthesis with varied complication. OI type II is a perinatally lethal variety, characterized by short limbs, broad long bones, radiologic evidence of severe osseous fragility and defective ossification. These patient usually are stillborn or die in early infancy of respiratory failure.  It has a wide range of phenotypic expressions, but cardiovascular anomalies tend to be rare association. When they do occur, they usually consist of aortic or mitral valve disease.

Case Presentation: Here we come across a rare case of OI type II in a neonate with acyanotic congenital heart disease. Echocardiography revealed moderate size ostium secundum atrial septal defect without pulmonary hypertension. The patient expired after 6 hour of life.

Conclusion: Any case of OI should be screened for congenital cardiovascular defect and another abnormality.