Perspectives in Medical Research

Abstract

Holt–Oram syndrome (H-O.S) is an autosomal dominant disorder characterized by mild-to-severe congenital cardiac defects and skeletal abnormalities of the upper limbs. The most common cardiac disorder is an ostium secundum atrial septal defect (ASD), followed by ventricular septal defect (VSD) . 1 out of 100,000 live births are affected. More than 300 cases have been published,revealing a wide spectrum of clinical signs. Persistant Pulmonary hypertension is not reported to belong to the spectrum of this condition. We report a case of a newborn with Holt–Oram syndrome who developed severe respiratory insufficiency shortly after birth.