Familial heart hand syndrome - A rare case report

Abstract

Holt-Oram syndrome is a rare heterogeneous genetic disorder with autosomal dominant inheritance, seen in 1 in 100,000 live births.1 Despite genetic heterogeneity, the most frequent mutation is seen in TBX5 gene located on chromosome 12q24.1.2 It is characterized by abnormalities of a radial array and congenital cardiac defects, most commonly atrial septal and ventricular septal defects, hence quoted as atriodigital dysplasia.3 Conduction disturbances are seen in one-third of individuals and may present even in the absence of structural heart disease.4