HOLT-ORAM SYNDROME: A RARE CASE REPORT

ÇOLAK A., KAYA U., Becit N., Sevil M. C. F., KOÇAK H.

ACTA MEDICA MEDITERRANEA, cilt.32, sa.6, ss.1899-1903, 2016 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 32 Sayı: 6
  • Basım Tarihi: 2016
  • Doi Numarası: 10.19193/0393-6384_2016_6_180
  • Dergi Adı: ACTA MEDICA MEDITERRANEA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1899-1903
  • Atatürk Üniversitesi Adresli: Evet

Özet

Holt-Oram syndrome (HOS) is a heart-upper limb malformation complex with an autosomal dominant inheritance and near-complete 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.