Prolapse of all cardiac valves in Noonan syndrome
نویسندگان
چکیده
منابع مشابه
Rheumatic involvement of all four cardiac valves.
Rheumatic involvement of all four heart valves is rare. A 35 year old woman presented with gradually progressive exertional dyspnoea for the preceding 10 years. On evaluation she was in atrial fibrillation with congestive heart failure. Clinical examination found evidence of stenosis of the mitral aortic and tricuspid valves with a history of rheumatic fever in childhood. Transthoracic echocard...
متن کاملPoor prenatal detection rate of cardiac anomalies in Noonan syndrome.
BACKGROUND The wide variation and nonspecific nature of many of the associated ultrasonographic findings complicate prenatal diagnosis of Noonan syndrome. The aim of the present study was to define the rate of prenatal diagnosis of heart malformations in cases diagnosed postnatally with Noonan syndrome. METHODS English-language literature review of 29 cases of Noonan syndrome examined prenata...
متن کاملNoonan 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 کاملElucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy.
Noonan syndrome (NS; MIM 163950) is an autosomal dominant disorder and a member of a family of developmental disorders termed "RASopathies," which are caused mainly by gain-of-function mutations in genes encoding RAS/MAPK signaling pathway proteins. Whole exome sequencing (WES) and trio-based genomic triangulation of a 15-year-old female with a clinical diagnosis of NS and concomitant cardiac h...
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...
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ژورنال
عنوان ژورنال: Case Reports
سال: 2015
ISSN: 1757-790X
DOI: 10.1136/bcr-2014-207241