HOLT-ORAM SYNDROME: A RARE CASE REPORT

ABDURRAHIM ÇOLAK, UGUR KAYA, NECIP BECIT, MÜNACETTIN CEVIZ FEHIMCAN SEVIL, HIKMET KOÇAK

Department of Cardiovascular Surgery, Ataturk University, Medical Faculty, Erzurum, Turkey

Holt-Oram syndrome (HOS) is a heart-upper limb malformation complex with an autosomal dominant inheritance and nearcomplete penetrance but variable expression. Holt and Oram first described this syndrome in 1960. Approximately 40% of cases represent new mutations. The syndrome is associated with defective development of cardiac structures that results in atrial septal defect (ASD), most commonly the secundum type; heart block of varying degree; or both.
The syndrome is characterized by cardiac malformations and aplasia or hypoplasia of the thumb. The incidence of HOS is estimated at 1:100,000 live births. In the literature, it is also known as atriodigital syndrome, heart-hand syndrome, upper limb-cardiovascular syndrome, cardiac-limb syndrome, or cardiomelic syndrome. Herein, we report a 22-year-old female case of HOS presenting with the absence of the right radius of the upper limb and ulnar dysplasia, hypoplasia, and kyphoscoliosis along with a large secundum type ASD and carotid artery abnormalities. We present this case of holt- oram syndrome with cardiac surgery and postoperative neurological complication and its successful treatment.