SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review

2019 ◽  
Vol 179 (10) ◽  
pp. 2083-2090 ◽  
Author(s):  
Anwar Baban ◽  
Nicole Olivini ◽  
Francesca Romana Lepri ◽  
Federica Calì ◽  
Mafalda Mucciolo ◽  
...  
Keyword(s):  
Literature Review ◽  
Congenital Heart Defects ◽  
Noonan Syndrome ◽  
Congenital Heart ◽  
Heart Defects ◽  
Novel Variants

scholarly journals Congenital heart defects in Noonan syndrome and RIT1 mutation

2016 ◽  
Vol 18 (12) ◽  
pp. 1320-1320 ◽  
Author(s):  
Giulio Calcagni ◽  
Anwar Baban ◽  
Francesca Romana Lepri ◽  
Bruno Marino ◽  
Marco Tartaglia ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Noonan Syndrome ◽  
Congenital Heart ◽  
Heart Defects

scholarly journals Mediating ERK1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome

2007 ◽  
Vol 117 (8) ◽  
pp. 2123-2132 ◽  
Author(s):  
Tomoki Nakamura ◽  
Melissa Colbert ◽  
Maike Krenz ◽  
Jeffery D. Molkentin ◽  
Harvey S. Hahn ◽  
...  
Keyword(s):  
Mouse Model ◽  
Congenital Heart Defects ◽  
Noonan Syndrome ◽  
Congenital Heart ◽  
Heart Defects

scholarly journals Quadricuspid aortic valve: an unexpected echocardiographic finding.

2016 ◽  
Vol 18 (2) ◽  
pp. 250 ◽  
Author(s):  
Carlos Manuel Aboitiz-Rivera ◽  
Ruben Blachman-Braun ◽  
Mario Fernando Lanza ◽  
Roberto Berebichez-Fridman ◽  
María José Díaz-Huízar ◽  
...  
Keyword(s):  
Aortic Valve ◽  
General Population ◽  
Literature Review ◽  
Aortic Valve Replacement ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Quadricuspid Aortic Valve ◽  
Hispanic Population ◽  
Echocardiographic Finding

Quadricuspid aortic valve (QAV) is an anatomic valvular variant, with a prevalence of 0.008% to 0.033% in the general population, and 1.46% in patients that undergo aortic valve replacement. The QAV can be an isolated valvular abnormality or associated  with other congenital heart defects. In this article, we present three of the few reported cases of QAV in the Hispanic population,  all of which  were asymptomatic and without evidence of hemodynamic alterations or other associated heart defects. Additionally a literature review is provided. 

scholarly journals The MTHFR 677C->T polymorphism and the risk of congenital heart defects: a literature review and meta-analysis

QJM ◽  
2007 ◽  
Vol 100 (12) ◽  
pp. 743-753 ◽  
Author(s):  
I.M. van Beynum ◽  
M. den Heijer ◽  
H.J. Blom ◽  
L. Kapusta
Keyword(s):  
Literature Review ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Meta Analysis

scholarly journals A Rare Mutation In Noonan Syndrome

2020 ◽  
Vol 7 (3) ◽  
pp. 1-4
Author(s):  
Vasco Carvalho ◽  
Keyword(s):  
Short Stature ◽  
Congenital Heart Defects ◽  
Noonan Syndrome ◽  
Congenital Heart ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Facial Features ◽  
Rare Mutation ◽  
Live Births ◽  
Increased Risk

Noonan Syndrome (NS) is a genetic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood. The incidence is estimated to be between 1:1000 and 1:2500 live births. Mutations in PTPN11 (12q24.13) are seen in 50% of cases.

scholarly journals Cyanotic Congenital Heart Defects – literature review

2017 ◽  
Vol 2 (2) ◽  
pp. 67-74
Author(s):  
Vlad Drăgoi ◽  
Irina Horhoianu ◽  
Răzvan Scăunașu ◽  
Monica Cîrstoiu
Keyword(s):  
Literature Review ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects

Noonan Syndrome

2010 ◽  
Author(s):  
Ellen Wingbermüuhle ◽  
Ineke van der Burgt
Keyword(s):  
Congenital Heart Defects ◽  
Noonan Syndrome ◽  
Congenital Heart ◽  
Mapk Pathway ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Tyrosine Phosphatase ◽  
Older Age ◽  
Diagnostic Process ◽  
Age Related

Noonan syndrome (NS) is a genetic disorder characterized by short stature, typical facial dysmorphology, and congenital heart defects. Noonan syndrome may occur on a sporadic basis or in a pattern consistent with autosomal dominant inheritance, with a predominance of maternal transmission (Noonan 1994). In approximately 50% of the patients with definite NS, a missense mutation is found in the PTPN11 gene on chromosome 12. PTPN11 is one of the genes of the Ras-MAPK pathway, a signal transduction cascade that has been studied extensively for its role in human oncogenesis. The signaling cascade regulates cell proliferation, differentiation, and survival. PTPN11 encodes the nonreceptor protein tyrosine phosphatase SHP-2. The mutations associated with NS result in a gain of function of SHP-2 (Tartaglia and Gelb 2005). Recently, activating mutations in other genes of the Ras-MAPK pathway (SOS1, KRAS, RAF1) were found as the causative dominant mutations in NS. These findings establish hyperactive Ras as a cause of the developmental abnormalities seen in NS (Schubbert et al. 2007). The diagnosis is made on clinical grounds, by observation of key features. Establishing the diagnosis can be very difficult, especially at an older age. There is great variability in expression, and mild expression is likely to be overlooked. Improvement of the phenotype occurs with increasing age. The age-related change of facial appearance can be subtle, especially at older age. Several scoring systems have been devised to guide the diagnostic process). The most recent scoring system was developed in 1994 (Van der Burgt et al. 1994). The incidence of NS is estimated to be between 1:1,000 and 1:2,500 live births (Mendez and Opitz 1985). Further details on the various medical aspects of NS (e.g., congenital heart defects, skeletal and urethrogenital abnormalities, growth delay) can be found in Van der Burgt (2007). A number of conditions have phenotypes strikingly similar to NS. The first is Turner syndrome (45, X0), a well-known chromosomal abnormality in girls. A group of distinct syndromes with partially overlapping phenotypes also exist in which causative mutations are also found in genes of the RAS-MAPK pathway.

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