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 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.

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.

Unusual combination of congenital heart defects in an infant with Noonan syndrome

1995 ◽  
Vol 16 (2) ◽  
pp. 95-99 ◽  
Author(s):  
L. R. Feit ◽  
K. Hansen ◽  
C. E. Oyer ◽  
J. C. Werner
Keyword(s):  
Congenital Heart Defects ◽  
Noonan Syndrome ◽  
Congenital Heart ◽  
Heart Defects ◽  
Unusual Combination

What does a genetic syndrome associated CHD in comparison with CHD patients mean for clinical practice? A cross-sectional study by the German National Register for Congenital Heart defects

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
J Remmele ◽  
P.C Helm ◽  
P Ewert ◽  
U.M.M Bauer
Keyword(s):  
Clinical Practice ◽  
Congenital Heart Defects ◽  
Noonan Syndrome ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Heart Defects ◽  
Secondary Diagnosis ◽  
Cross Sectional ◽  
Genetic Syndrome ◽  
Catch 22

Abstract Introduction About 20% of all patients with congenital heart disease (CHD) showing other malformations and abnormalities. They have an increased likelihood for a genetic disorder which is either hereditary or firstly occurred spontaneously. Especially the influence of a genetic syndrome for clinical practice in CHD patients is of particular importance. Purpose This cross-sectional registry study focusses patients with CHD in comparison with patients having the most frequent genetic syndrome associated CHD, registered with the National Register for Congenital Heart Defects (NRCHD), to identify whether they are at higher risk for secondary diagnoses (SD), more surgeries and interventional treatments or not. Methods By using the NRCHD medical database at the date of 12 Feb 2020, out of a total of 55687 registered CHD patients, 34004 patients with CHD up to thirty years were identified. 28478 (female 48.1%; 16.1±7.0 years) CHD patients without any hereditary fetal or neonatal secondary diagnosis (HFN) representing the control group (CG) and 5526 (female 51.8%; 13.7±6.6 years) CHD patients with HFN were included in the statistical analyses. SD were defined and classified by using the International Paediatric and Congenital Cardiac Code (IPCCC). The CHD severity classification of Warnes at al. was used. Statistical analyses were conducted using a multinomial logistic regression model. Results Out of the 5526 CHD patients with HFN, the most frequent genetic syndromes associated with CHD were Trisomy 21 (1645 (4.8%); simple 300 moderate 974 complex 371), Catch 22-syndrome (306 (0.9%); simple 11 moderate 132 complex 163), Noonan syndrome (93 (0.3%); simple 13 moderate 71 complex 9) and Williams-Beuren syndrome (88 (0.3%); simple 2 moderate 82 complex 4). Regarding Trisomy 21 they have a significantly reduced risk of 26.8% for having a number of interventional treatments as high as the CG (OR:0.73 95% CI:0.60–0.89; p=0.002). In Catch 22-syndrome patients a higher risk for acquired secondary diagnosis of 17.6% (OR:1.17 95% CI:1.05–1.31; p=0.004) as well as for interventional treatments of 6.9% (OR:1.06 95% CI:1.01–1.14; p=0.033) was found. A 28.6% higher risk for an increased number of extracardiac secondary diagnoses was shown in Noonan syndrome patients (OR:1.29 95% CI:1.06–1.56; p=0.010). Patients with Williams-Beuren syndrome are at 52.1% decreased risk for having a number of surgeries as high as the CG (OR:0.48 96%CI:0.28–0.83; p=0.008) but a higher risk for a higher number of interventional treatments of 20.5% (OR:1.21 95% CI:1.06–1.37; p=0.004). Conclusions Patients with genetic syndrome associated CHD could be assumed being at higher risk for secondary diagnosis, however, this holds true for Noonan syndrome and Catch 22-syndrome patients but not for patients with Trisomy 21 or Williams-Beuren syndrome. It would be necessary to monitor the genetic syndrome associated with CHD patients whether these findings change when they reaching older ages. Funding Acknowledgement Type of funding source: None

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