Абстрактный

Holt-Oram syndrome: A case report.

Kamal Kant Jena*

Holt-Oram Syndrome (HOS) also known as hand-heart syndrome is a very rare autosomal dominant disease caused by a mutation in the TBX5 gene located on chromosome 12. Clinically it manifests with morphological abnormalities of the upper limbs and congenital cardiac defects leading to variety of complications. Cardiac malformations go undiagnosed till late in life. With routine antenatal checkup, external physical deformities can be found out with high suspicion of congenital heart malformations as well, which can lead to early effective management. We here by describe a case of 20 year-old female with known morphological alterations of the upper limbs since birth presented with right heart failure diagnosed to have atrial septal defect.