49,XXXXY Sendromlu Bir Çocukta Konjenital Kalp Hastalığı

Yıl 2015, , 63 - 67, 01.06.2015

Mustafa Argun Mustafa Ali Akin Selim Kurtoglu Dilek Sarıca Abdullah Özyurt Özge Pamukcu Ali Baykan

https://doi.org/10.4274/jcp.88597

Öz

49,XXXXY sendromu, 46,XY’ye ekstra üç X kromozomu eklenmesi ile karakterize nadir görülen cinsiyet kromozom anöploidi hastalığıdır. Klasik bulguları mental retardasyon, hipogonadizm, radioulnar sinostozis triadı olarak tanımlanmıştır. 49,XXXXY sendromunda patent duktus arteriozus, atriyal septal defekt, ventrikuler septal defekt, pulmoner stenoz, Fallot tetralojisi gibi konjenital kalp defektleri bildirilmiştir. Yenidoğan döneminde düşük doğum ağırlığı, kısa boy, dismorfik kraniyofasiyal bulgular ve hipoplastik erkek genitalya ile tanısını koyduğumuz ve 4 aylık iken kalp yetersizliği kliniği ile kabul edildiğinde ciddi pulmoner hipertansiyonu ve orta büyüklükte patent duktus artriyozusu saptanarak, duktusu transkateter Amplatzer Duktal Okluder I ile kapattığımız olguyu sunuyoruz. Bildiğimiz kadarıyla bu olgu patent duktus artiyozusu transkateter kapatılan ilk 49,XXXXY sendromudur

Anahtar Kelimeler

49, XXXXY sendromu, konjenital kalp hastalığı, transkateter duktus kapatma

Congenital Heart Disease in an Infant with 49,XXXXY Syndrome

Öz

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

Anahtar Kelimeler

49, XXXXY syndrome, congenital heart disease, transcathater ductus closure

Kaynakça

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