Congenital Heart Disease in an Infant with 49, XXXXY Syndrome


Argun M. , Akin M. A. , Kurtoglu S. , Sarica D., Ozyurt A. , PAMUKÇU Ö. , ...Daha Fazla

GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS, cilt.13, ss.63-67, 2015 (ESCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 13 Konu: 1
  • Basım Tarihi: 2015
  • Doi Numarası: 10.4274/jcp.88597
  • Dergi Adı: GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS
  • Sayfa Sayıları: ss.63-67

Özet

49, XXXXY syndrome which is characterized with the addition of three extra X chromosomes to 46, XY is the rarest sex chromosome aneuploidy syndrome. Its classical findings were defined as a triad of mental retardation, hypogonadism and radioulnar synostosis. In 49, XXXXY syndrome, congenital heart defects like patent ductus arteriosus, atrial septal defect, ventricular septal defect, pulmonary stenosis, Fallot's tetralogy have been reported. We present a case diagnosed in the newborn stage with low birth weight, short stature, dysmorphic craniofacial findings and hypoplastic male genitalia who was found to have severe pulmonary hypertension and medium patent ductus arteriosus when admitted at 4 months of age with heart failure and who underwent transcathater ductus closure with Amplatzer Duct Occluder I. To our knowledge, our case is the first reported 49, XXXXY syndrome with patent ductus arteriosus closed with the transcathater route.