Holt-Oram syndrome: a case report

Abstract

Holt-Oram syndrome is clinically characterized by morphological abnormalities of the upper limbs and congenital cardiac defects. Although the disease is congenital, the diagnosis may only be made later in life. It is a rare autosomal dominant disorder, caused by a mutation in the TBX5 gene located on chromosome 12, but sporadic cases have also been reported. We describe the case of a 75-year-old man with known morphological alterations of the upper limbs since birth and congenital cardiac defect (atrial septal defect), who later in life also manifested with advanced atrioventricular block.

Keywords: Atrial septal defect; Defeito septo interauricular; Hand-heart syndrome; Holt-Oram syndrome; Síndrome Holt-Oram; Síndrome mão-coração; T-BOX; T-box.