Nazmi NARİN, Ferunda DEMİR, M. Emre ATABEK, Mehmet KESKİN, Selim KURTOĞLU

Osteoporoz ve sol kalp tutulumu olan noonan sendromu olgusu

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, 1° 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.

Noonan syndrome associated with osteoporosis and leftsided cardiac lesions

Background and Design.- Noonan syndrome one of the non-chromosomal syndromes is characterized by short stature webbed neck, dysmorphic faces, cardiac anomalies, the skeletal and lymphatic system abnormalities and mild degrees of mental retardation. The major cardiovascular defects are valvular pulmoner stenosis, hypertrophic cardiomyopathy and atrial septal defect. However left-sided cardiac lesions including aortic and mitral valve has been rarely published. Growth retardation is one of the major application reasons in Noonan syndrome in childhood. The cause of the growth retardation is unclear. This report describes a 15 year-old girl, applying with complaint of strabismus and diagnosed as Noonan syndrome according to the fenotypic features. Un expectedly the patients has left-sided cardiac lesions including bicuspid aortic valve, aortic and mitral valve deficiency and osteoporpsis. The etiology of osteoporosis seems likely unclear. We recommend emphasizing attentive echocardiographic evaluation and appreciation of osteoporosis in Noonan syndrome.

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