Frequency of Aortic Dilation in Noonan Syndrome
نویسندگان
چکیده
منابع مشابه
Noonan syndrome.
Noonan syndrome is a common autosomal dominant condition caused by multiple genes in the RasMAPK pathway. The adult phenotype can be extremely subtle, and many adults are diagnosed only after the birth of a more obviously affected child. Whether diagnosis is made in childhood or adulthood, initial and ongoing evaluation of many systems can have considerable health benefits.
متن کاملNoonan syndrome
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphology and congenital heart defects. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associa...
متن کاملNoonan syndrome.
Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deform...
متن کاملNoonan Syndrome
The main facial features of NS are hypertelorism (an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the eyes), ptosis (a drooping or falling of the upper eyelid) and low-set rotated ears (Pic. 2) situated behind with a thickened helix (the prominent rim of the auricle). The cardiovascular defects most commonly associated with...
متن کاملAortic dilation, dissection, and rupture in patients with Turner syndrome.
We report two patients with Turner syndrome who had aortic dissection and rupture, one with prior repair of coarctation. We also note the high incidence (8.8%) of unrecognized aortic root dilation in a group of 57 patients with Turner syndrome whom we prospectively evaluated by echocardiography. Our analysis and review of previously reported cases suggests that multiple risk factors may exist f...
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ژورنال
عنوان ژورنال: The American Journal of Cardiology
سال: 2014
ISSN: 0002-9149
DOI: 10.1016/j.amjcard.2013.09.034