Holt- oram syndrome - a case report

K. LavanyaKumari., M.Adaikkappan., S. Mirunalini and P. Gurusankari

Holt-Oram syndrome (HOS) is 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) and ostiumprimum ASD. Electrocardio graphlcal abnormalities such as various degrees of atrioventricular block have also been reported. In addition hypoplastic peripheral vessels of the upper limbs have been observed. One out of 100,000 live births is affected. More than 300 cases have been published, revealing a wide spectrum of clinical signs. HOS is an autosomal dominant disorder with complete penetrance. The underlying genetic defect was found on the long arm of chromosome 12 (12q2). Mutations in the TBX3 and TBX5 genes lead to a wide range of phenotypes. This condition can also occur due to denovo mutation. Detailed antenatal ultrasound examination and visualisation of all limbs& searching for fetalcardiac lesions is necessary for an antenatal diagnosis. If diagnosed early, MTP can be offered to selected cases. This case is reported to impress the need for early diagnosis and management.

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DOI: http://dx.doi.org/10.24327/23956429.ijcmpr20170041