scholarly journals Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: A validated genetic association study

Mitochondrion ◽  
2007 ◽  
Vol 7 (3) ◽  
pp. 204-210 ◽  
Author(s):  
Jeffrey A. Canter ◽  
Marshall L. Summar ◽  
Heidi B. Smith ◽  
Geraldine D. Rice ◽  
Lynn D. Hall ◽  
...  
1995 ◽  
Vol 59 (3) ◽  
pp. 253-269 ◽  
Author(s):  
G. E. DAVIES ◽  
C. M. HOWARD ◽  
M. J. FARRER ◽  
M. M. COLEMAN ◽  
L. B. BENNETT ◽  
...  

Genes ◽  
2021 ◽  
Vol 12 (6) ◽  
pp. 827
Author(s):  
Lisa J. Martin ◽  
D Woodrow Benson

Congenital heart defects (CHD) are malformations present at birth that occur during heart development. Increasing evidence supports a genetic origin of CHD, but in the process important challenges have been identified. This review begins with information about CHD and the importance of detailed phenotyping of study subjects. To facilitate appropriate genetic study design, we review DNA structure, genetic variation in the human genome and tools to identify the genetic variation of interest. Analytic approaches powered for both common and rare variants are assessed. While the ideal outcome of genetic studies is to identify variants that have a causal role, a more realistic goal for genetic analytics is to identify variants in specific genes that influence the occurrence of a phenotype and which provide keys to open biologic doors that inform how the genetic variants modulate heart development. It has never been truer that good genetic studies start with good planning. Continued progress in unraveling the genetic underpinnings of CHD will require multidisciplinary collaboration between geneticists, quantitative scientists, clinicians, and developmental biologists.


2014 ◽  
Vol 23 (2) ◽  
pp. 157-163 ◽  
Author(s):  
Leo A Bockeria ◽  
Osman A Makhachev ◽  
Titalav Kh Khiriev ◽  
Vladimir P Podzolkov ◽  
Mikhail A Zelenikin ◽  
...  

2019 ◽  
Vol 22 (4) ◽  
pp. E308-E309
Author(s):  
He Fan ◽  
Weng Jiakan ◽  
He Qicai ◽  
Qian Ximing ◽  
Chen Huaidong

Anomalies of the coronary arteries -- especially their abnormal origin from the pulmonary artery (ARCAPA) trunk -- are among the least common. They’re also the most dangerous of congenital heart defects with an incidence of 0.002% in the general population [Williams 2006]. The diagnosis exceedingly is difficult because anatomical abnormalities of the coronary arteries are subtle. We present a case of an anomalous origin of the right coronary artery.


2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
Z Chen ◽  
S H Lin ◽  
T Amy ◽  
J C Han ◽  
X Yang ◽  
...  

Abstract Background and objectives Retrograde flow (RF) in the aortic isthmus is frequently observed in fetuses in various hemodynamic states including congenital heart defects (CHD). This study sought to: 1) establish the association between this observation and variables of CHD by fetal echocardiography (FE); and 2) to computer flow dynamic (CFD) model to probe the causes and mechanisms underlying this observation. Methods A total of 256 (gestational age (GA) 26.3±9.8 weeks) fetuses with CHD and 168 (GA: 25.8±10.3weeks) with normal FE were examined from January, 2011 to May, 2016. The study group was divided into: 1) no RF, 2) end systolic RF, end diastolic RF, systolic RF, diastolic RF, and systolic and diastolic RF sub-groups (Figure upper). GA, cerebroplacental ratio (CPR) of pulsatility index (PI) in middle cerebral and umbilical arteries, cardiothoracic area ratio (CTR), left and right atrial dimensions (LA/RA), left and right ventricular dimensions (LV/RV), aortic and pulmonary artery dimensions (AO/PA), and aortic isthmus and ductal arch dimensions (AI/DA), velocity ratio of aorta and pulmonary artery (AO/PAv), aortic isthmus and ductal arch in systolic (AI/DAvs) and diastolic (AI/DAvd). Using principal component analysis (PCA), the component score coefficient matrix and optional variance percent (OVP) was calculated by PCA and the RF pattern was simulated by CFD (Figure lower). Results RF modeling by CFD was feasible (Figure B). Component analysis by PCA showed that four types of variables were associated with RF: 1) Structural variables contribute 23.7% OVP, including LV/RV, LA/ RA, AO/PA, and IS/DA; 2) Resistance variables 16.8% OVP, i.e. CPR; 3) Growth variables 12.2% OVP, i,e, GA and CTR; and 4) Velocity variables 10.9% OVP, i.e. AO/PAv, AI/DAvd. Retrograde flow by fetal echo and CFD Conclusions Retrograde flow in the aortic isthmus is associated with structural, resistance, growth, and velocity variables in fetal circulation in various CHD and normal 3rd trimester pregnancies. Simulation and modeling by CFD is feasible and may be useful to understand the causes and mechanisms of retrograde flow and its utility in diagnosis and prognosis in CHD. Acknowledgement/Funding Research on prevention and control of reproductive health and major birth defects


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.


2002 ◽  
Vol 94 (1) ◽  
pp. 44-49 ◽  
Author(s):  
Douglas G. Ririe ◽  
Robert L. James ◽  
James J. O’Brien ◽  
Yonggu A. Lin ◽  
Judy Bennett ◽  
...  

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