OSTEOPOROZ VE SOL KALP TUTULUMU OLAN NOONAN SENDROMU OLGUSU

Year 2005, Volume: 36 Issue: 2, 97 - 101, 17.07.2014

Ferunda Demir Demir Selim Kurtoğlu M. Emre Atabek Mehmet Keskin Nazmi Narin

Abstract

Noonan sendromu kısa boy, yele boyun, dismorfik yüz, konjenital kardiyak anomaliler, iskelet ve lenfatik sistem patolojileri ve orta derecede mental retardasyonla seyreden kromozomal anomali olmayan semptomlardan birisidir. Noonan sendromunda en sık görülen kardiyovasküler defektler valvuler pulmoner stenoz, hipertrofik kardiyomiyopati ve atrial septal defekttir. Bununla birlikte aort ve mitral kapağı içeren sol kalp tutulumu nadiren yayınlanmıştır. Noonan sendromunda büyüme geriliği, çocukluk döneminde en sık başvuru nedenlerinden biridir. Büyüme geriliğinin nedeni açık değildir. Bu yazıda şaşılık nedeniyle başvuran 15 yaşındaki kız hastada fenotipik olarak Noonan sendromu tanısı konulup, beklenenden farklı olarak biküsbit aort, I° aort yetmezliği ve minimal mitral yetmezlikten oluşan sol kalp bulguları ve radyolojik olarak osteoporoz tanısı konulmuştur. Osteoporozun altta yatan mekanizması açık değildir. Biz Noonan sendromlu olguların ekokardiyografik olarak dikkatle değerlendirilmesi ve hastalarda osteoporoz riskinin de göz önünde bulundurulması gerektiğini öneriyoruz.

Keywords

Noonan sendromu, sol kalp tutulumu, osteoporoz

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