scholarly journals Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights

Genes ◽  
2021 ◽  
Vol 12 (7) ◽  
pp. 1047
Author(s):  
Giulio Calcagni ◽  
Flaminia Pugnaloni ◽  
Maria Cristina Digilio ◽  
Marta Unolt ◽  
Carolina Putotto ◽  
...  
Keyword(s):  
Heart Defects ◽  
Genetic Diseases ◽  
Deletion Syndrome ◽  
Genetic Syndromes ◽  
Cardiac Defects ◽  
Genetic Causes ◽  
Recent Advances ◽  
Molecular Events ◽  
Specific Association ◽  
Ellis Van Creveld Syndrome

Recent advances in understanding the genetic causes and anatomic subtypes of cardiac defects have revealed new links between genetic etiology, pathogenetic mechanisms and cardiac phenotypes. Although the same genetic background can result in different cardiac phenotypes, and similar phenotypes can be caused by different genetic causes, researchers’ effort to identify specific genotype–phenotype correlations remains crucial. In this review, we report on recent advances in the cardiac pathogenesis of three genetic diseases: Down syndrome, del22q11.2 deletion syndrome and Ellis–Van Creveld syndrome. In these conditions, the frequent and specific association with congenital heart defects and the recent characterization of the underlying molecular events contributing to pathogenesis provide significant examples of genotype–phenotype correlations. Defining these correlations is expected to improve diagnosis and patient stratification, and it has relevant implications for patient management and potential therapeutic options.

Common Maternal Genetic Syndromes VI: 22q11.2 Deletion Syndrome

2020 ◽  
Author(s):  
Megan Boothe ◽  
Nathaniel Robin
Keyword(s):  
Digeorge Syndrome ◽  
Heart Defects ◽  
22Q11.2 Deletion Syndrome ◽  
Velocardiofacial Syndrome ◽  
Deletion Syndrome ◽  
Genetic Syndromes ◽  
22Q11.2 Deletion ◽  
Psychiatric Disturbances ◽  
Psychiatric Complications ◽  
Management Recommendations

22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion syndrome with an incidence of 1/3,000-1/4,000 live births. Common manifestations of 22q11.2DS include congenital heart defects, hypocalcemia, immune deficiency, cleft palate, cognitive deficits, and psychiatric disturbances. As childhood management of 22q11.2DS has improved, these individuals are living into adulthood and may have children of their own. Thus, it is imperative for the clinician to have an understanding of both the physical and psychiatric complications that may be seen in the adult with 22q11.2DS and how this may affect a pregnancy. Here we review the common features of 22q11.2DS in the adult and pregnancy management recommendations for the obstetrician.  This review contains 4 figures, 1 tables, and 27 references. Keywords: 22q11.2 Deletion Syndrome; DiGeorge Syndrome; Velocardiofacial Syndrome; 22q11.2 Deletion Syndrome Adult; 22q11.2 Deletion Syndrome pregnancy; DiGeorge Syndrome pregnancy; DiGeorge Syndrome adult. 

scholarly journals Neural networks for classification and image generation of aging in genetic syndromes

2021 ◽  
Author(s):  
Dat Duong ◽  
Ping Hu ◽  
Cedrik Tekendo-Ngongang ◽  
Suzanna Ledgister Hanchard ◽  
Simon Liu ◽  
...  
Keyword(s):  
Neural Network ◽  
Neural Networks ◽  
Williams Syndrome ◽  
Genetic Diseases ◽  
Age Groups ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Genetic Syndromes ◽  
22Q11.2 Deletion ◽  
Generative Adversarial Network

AbstractIn medical genetics, one application of neural networks is the diagnosis of genetic diseases based on images of patient faces. While these applications have been validated in the literature with primarily pediatric subjects, it is not known whether these applications can accurately diagnose patients across a lifespan. We aimed to extend previous works to determine whether age plays a factor in facial diagnosis, as well as to explore other factors that may contribute to the overall diagnosis accuracy. To investigate this, we chose two relatively common conditions, Williams syndrome and 22q11.2 deletion syndrome. We built a neural network classifier trained on images of affected and unaffected individuals of different ages. Our classifier outperformed clinical geneticists at recognizing face images of these two conditions within each of the age groups (the performance varied between the age groups): (1) under 2 years old, (2) 2-9 years old, (3) 10-19 years old, (4) 20-34 years old, and (5) ≥35 years old. The overall accuracy improvement by our classifier over the clinical geneticists was 15.5% and 22.7% for Williams syndrome and 22q11.2 deletion syndrome, respectively. Additionally, comparison of saliency maps revealed that key facial features learned by the neural network differed slightly with respect to age. Finally, joint training real images with multiple different types of fake images created by a generative adversarial network showed up to 3.25% accuracy gain in classification accuracy.

scholarly journals Do you know this syndrome?

2013 ◽  
Vol 88 (4) ◽  
pp. 664-666 ◽  
Author(s):  
Rogerio Nabor Kondo ◽  
Ligia Márcia Mario Martins ◽  
Vivian Cristina Holanda Lopes ◽  
Rodrigo Antonio Bittar ◽  
Fernanda Mendes Araújo
Keyword(s):  
Differential Diagnosis ◽  
Short Stature ◽  
Noonan Syndrome ◽  
Congenital Heart ◽  
Heart Defects ◽  
Facial Dysmorphism ◽  
Genetic Syndromes ◽  
Cardiac Defects ◽  
Important Differential Diagnosis ◽  
Dental Malocclusion

Noonan Syndrome is one of the most common genetic syndromes and also an important differential diagnosis in children presenting with syndromic facies similar to Turner's syndrome phenotype. This syndrome is characterized by facial dysmorphism, congenital heart defects, short stature and also a wide phenotypic variation. This article discusses the case of a 10 year-old patient with Noonan syndrome that presented typical facies, cardiac defects (pulmonary dilatation and mitral regurgitation), dental malocclusion, micrognatism, short stature and a certain degree of learning disability.

GENETICS OF CARDIAC MALFORMATIONS

2008 ◽  
Vol 19 (2) ◽  
pp. 105-118
Author(s):  
SHA TANG ◽  
TAOSHENG HUANG
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Heart Defects ◽  
Fetal Life ◽  
Genetic Syndromes ◽  
Cardiac Defects ◽  
Psychological Burden ◽  
Congenital Cardiac Defects ◽  
Child Healthcare

ABSTRACTCongenital heart disease is one of the most common major malformations in humans, contributing substantially to the financial and psychological burden of child healthcare. About one percent of children are born with heart defects, and every year, more children die from congenital heart disease than are diagnosed with cancer. A diagnosis of congenital heart disease is frightening for parents, particularly when it affects a fragile newborn. The heart is the first organ to be matured in a human fetus and if a particular congenital heart defect is compatible with fetal life, the child will be born with a defective heart. More than 300 genetic syndromes are associated with congenital cardiac defects. In this review, we will discuss the genetics of congenital heart disease, how to carry out a diagnosis of the genetic causes and how to provide counseling for families with congenital heart disease.

Conotruncal heart defects and aortic arch anomalies in fetuses with 22q11.2 deletion syndrome

2020 ◽  
Author(s):  
I.V. Novikova, O.M. Khurs, T.V. Demidovich et all
Keyword(s):  
Aortic Arch ◽  
Heart Defects ◽  
22Q11.2 Deletion Syndrome ◽  
Ventricular Outflow Tract ◽  
Double Outlet Right Ventricle ◽  
Interrupted Aortic Arch ◽  
Left Ventricular ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Aortic Arch Anomalies

16 second trimester fetuses with 22q11.2 deletion syndrome have been examined at anatomic-pathological investigation. Main cardiovascular diseases were ascending aorta hypoplasia with aortic valve stenosis (n = 6; 37.5%), truncus arteriosus (n = 5; 31.25%), tetralogy of Fallot (n = 3; 18.75%) and double-outlet right ventricle (n = 1; 6.25%). Ventricular septal defect was present in 16 cases. Associated aortic arch anomalies included interrupted aortic arch (n = 9; 56.25%), right aortic arch (n = 6; 37.5%), retroesophageal ring (n = 1; 6.25%) and aberrant right subclavian arteria (n = 5; 31.25%). 5 fetuses had left ventricular outflow tract obstructive lesions with interrupted aortic arch of type B combined with aberrant right subclavian arteria.

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