scholarly journals Сongenital diseases of the heart among newborn children: genetic aspects

Congenital heart defects are a heterogeneous group of diseases that occur as isolation or a part of multiple birth defects, gene disorders or chromosomal abnormalities. Chromosomal abnormalities and its underlying syndromes are the cause of 6 to 36% of cases of congenital heart defects. Monogenic etiology is proven in about 8% of cases, and the main group - about 90% of the congenital heart defects is the result of an unfavorable combination of genetic predisposition and external factors. The causes of early neonatal infant mortality are dominated by incompatible birth defects: almost 26% of perinatal and neonatal deaths are associated with congenital child pathology. Heart defects compose about 30% of all birth defects. They rank first place among the diseases that lead to perinatal mortality and early disability. World statistics show that the incidence of birth defects in the world is 9 per 1000 newborns, in Europe - 8/1000, which is 4 times more frequent than neural tube defects and 6 times higher than chromosomal abnormalities. In Ukraine, about 5,000 children with congenital heart defects are born each year, and the total number of those children on dispensary records reaches more than 45,000. Knowledge about the prevalence of birth defects in the region is needed to develop new information markers of the risk of congenital pathology of the circulatory system for women of reproductive age. Data on the incidence of congenital heart defects of fetuses and newborns in the region will allow the creation of a database for follow-up studies, which will facilitate the timely identification of pregnant women at risk. This will improve the prognosis of pregnancy, reduce the level of perinatal pathology, which will have a significant medical and social effect. The data obtained will allow to create preconditions for improvement of approaches to the definition of risk groups of perinatal pathology, perfection of specialized care for pregnant women with risk of congenital heart defects of the fetus.

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Lauren E. Schlichting ◽  
Tabassum Insaf ◽  
George Lui ◽  
Ali Zaidi ◽  
Alissa Van Zutphen

Author(s):  
Elijah H. Bolin ◽  
Yevgeniya Gokun ◽  
Paul A. Romitti ◽  
Sarah C. Tinker ◽  
April D. Summers ◽  
...  

2020 ◽  
Vol 19 (6) ◽  
pp. 70-82
Author(s):  
L.A. Rudyuk ◽  
◽  
O.S. Reshetnikova ◽  

In this review, we perform clinical and morphological analysis of the mechanisms underlying adaptation of the human placenta to hypoxia in the fetoplacental complex in pregnant women with congenital heart defects (CHDs). We assessed specific characteristics of macroscopic and microscopic structure of the placenta in women with this extragenital pathology. We descried morphological involutive dystrophic and compensatory mechanisms that develop in the placenta of women with impaired hemodynamics. We proposed molecular markers, whose investigation will clarify functional state of the placental barrier and ways of remodeling vascular-stromal components of the villous chorion. Potential risks associated with circulatory hypoxia in the mother-placenta-fetus system should be taken into account in the management of pregnant women with CHDs. Detection of placental maladaptation signs in mothers with CHDs will help to identify the risk group of newborns, organize preventive therapy, prophylaxis of diseases, health improvement, and treatment of newborns. Key words: compensatory and adaptive processes, hypoxia, immunohistochemistry, morphology, placenta


2011 ◽  
Vol 32 (8) ◽  
pp. 1147-1157 ◽  
Author(s):  
Robert J. Hartman ◽  
Sonja A. Rasmussen ◽  
Lorenzo D. Botto ◽  
Tiffany Riehle-Colarusso ◽  
Christa L. Martin ◽  
...  

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Tiffany Colarusso ◽  
Autry Andrew ◽  
Hilda Razzaghi ◽  
Coleen Boyle ◽  
William Mahle ◽  
...  

BACKGROUND: Population-based information on special education service needs among children with congenital heart defects (CHDs) is limited. We investigated the prevalence of receipt of special education services among children with CHDs. METHODS: Children born from 1982-2004 in metropolitan Atlanta with CHDs (n=3,744) were identified from a population-based birth defect surveillance program, and contemporaneous children born without major birth defects (n=860,715) were identified from birth certificates. Cohorts were linked to special education files for 1992-2012 school years to identify receipt of special education services. Children with CHDs and non-cardiac defects or genetic syndromes were excluded; children with isolated CHDs were classified by presence or absence of critical CHDs (i.e., defects needing intervention in the first year of life). We evaluated prevalence of special education services and calculated prevalence ratios (PRs) using children without birth defects as reference. RESULTS: Children with CHDs were 50% more likely than those without birth defects to use special education services (PR 1.5; 95% Confidence interval 1.4-1.7). Similar to children without birth defects, the most common eligibility among children with CHDs was speech/language impairment. Compared to children without birth defects, the prevalence of several special education eligibilities were significantly higher among children with all CHDs: any intellectual disability (PR 3.8), sensory impairment (PR 3.0), other health impairment (PR 2.8), significant developmental delay (PR 1.9), orthopedic impairment (PR 1.9), and specific learning disability (PR 1.4). For most special education eligibilities, there was no significant variation in the elevated prevalence ratios by presence or absence of critical CHDs. CONCLUSIONS: Children with many types of CHDs received special education services more often than children without birth defects. These findings highlight important resource needs for children with CHDs. Furthermore, they suggest that recommendations to perform developmental screening only on children with select CHDs may miss or delay identification of children with other CHDs, who may also need special education services.


1927 ◽  
Vol 23 (10) ◽  
pp. 1041-1045
Author(s):  
B. M. Deich

"Blue disease" is not a separate nosological entity, but represents a certain syndrome accompanying congenital heart defects. Despite the fact that this disease has long been known, nevertheless, its pathogenesis has not yet been definitively established. The former authors explained various individual forms of cardiac birth defects by this syndrome, but now it has been established that "blue disease" is a collective concept and occurs, according to Barye, in septal defects and anomalies of large vessels, and according to Fallop, in simultaneous existence of pulmonary artery stenosis and non-cavitary septum as well as in non-cavitary ductus botalus.


Sign in / Sign up

Export Citation Format

Share Document