[Primary hypertrophic cardiomyopathy in noonan syndrome]

ABSTRACT

The term "Noonan syndrome" has been applied to males and females who have certain phenotypic features that occur also in turner syndrome, but these boys and girls have normal karyotypes. The disorder is usually sporadic, but affected siblings of the same and different genders have been reported. The most common abnormalities are short stature, webbing of the neck, pectus carinatum or pectus excavatum, cubitus valgus, and congenital heart disease. We describe a case of Noonan Syndrome that admited in hospital with initial diagnosis of Turner syndrome and referred for routine evaluation of cardiovascular abnormalities. Physical examination, electrocardiogram and chest x-ray and echocardiographic finding confirmed severe nonobstructive hypertrophic cardiomyopathy. After chromosomal analysis that revealed normal 46xx karyotype diagnosis of Noonan syndrome have been done. We concluded that Noonan syndrome should be considered in differntial diagnosis short statue in girls with Turner features