Congenital Heart Disease and Anomalies of the Great Vessels

2012 ◽  
pp. 1647-1671 ◽  
Author(s):  
Richard G. Ohye ◽  
Jennifer C. Hirsch
PEDIATRICS ◽  
1954 ◽  
Vol 14 (2) ◽  
pp. 117-121
Author(s):  
ROBERT W. WINTERS ◽  
SAUL J. ROBINSON ◽  
GEORGE BATES

A case of multiple hemangiomata of the liver is reported in an infant who presented signs and symptoms strongly suggesting congenital heart disease. The post mortem examination revealed no gross anomalies of the heart or great vessels, but did show a heart with cardiac hypertrophy. A mechanism to explain the cardiac failure in this case is discussed.


PEDIATRICS ◽  
1956 ◽  
Vol 18 (3) ◽  
pp. 491-500 ◽  
Author(s):  
John D. Keith

HEART failure is associated with an inability of the heart to empty itself adequately, with the result that there is a high venous filling pressure and a decrease in the effective work done by the heart muscle. There are several factors that, if sufficiently severe, will produce congestive heart failure in either infancy or childhood. These include valvular obstruction or insufficiency; mechanical obstruction of the heart as a whole, as in pericardial disease; the physical effects of large intracardiac shunts which increase the load on one or both ventricles; the presence of raised pressure in the pulmonary or systemic circulation; inflammatory reactions in the heart muscle or oxygen lack; and, finally, certain metabolic disturbances, such as hyperthyroidism or hypothyroidism. One or more of these factors may be operating in the same child, as in rheumatic fever where myocarditis is associated with valvular insufficiency, or in congenital heart disease with pulmonary stenosis and patent foramen ovale, where the right ventricle has a high pressure to maintain and is at the same time being offered cyanotic blood from the coronaries. PATIENT MATERIAL In analyzing 1,580 cases of congenital heart disease at the Hospital for Sick Children, Toronto, 20 per cent were found to have had failure at some time. In 90 per cent of these failure occurred in the first year of life. A list of the various causes of heart failure in the pediatric age group in order of frequency follows. [see table in source pdf] In certain types of heart defects failure develops in characteristic age groups. For example, during the first week of life the most common cause of heart failure is aortic atresia. From 1 week to 1 month, coarctation of the aorta leads. From 1 to 2 months, transposition of the great vessels predominates. From 2 to 3 months, endocardial fibroelastosis is the chief cause of heart failure, with transportation of the great vessels second to it. The actual incidence of type of heart defect in relation to age at onset of heart failure is as follows.


2021 ◽  
Vol 24 (1) ◽  
pp. 15-20
Author(s):  
L Aidinidou ◽  
A Chatzikyriakidou ◽  
A Giannopoulos ◽  
V Karpa ◽  
I Tzimou ◽  
...  

Abstract Congenital heart disease (CHD) is a group of structural defects of the heart and the great vessels, and one of the leading causes of death among infants and young adults. Several gene variants are involved in diverse mechanisms of cardiac and vessel development and could thus be considered candidate mutated genes for a congenital heart defect or a specific variant could predispose a person to CHD. In the present study, variants in four such genes are investigated for the first time in a group of young Greek CHD patients: the NFKB1 gene polymorphism (–94ins/ delATTG), rs28362491, NKX2-5 gene polymorphism rs2277923, GATA4 gene polymorphism rs11785481 and RANKL gene polymorphism rs4531631. A total of 43 CHD patients and 100 healthy adults were included in the study. The polymerase chain reaction-restriction fragment length polymorphism (PRC-RFLP) method was used to genotype the aforementioned polymorphisms of NFKB1, NKX2-5, GATA4 and RANKL. The association analysis identified that there was a protective association between CHD and the A allele of rs2277923 polymorphism (p = 0.004). The D allele of the rs28362491 polymorphism is also a likely risk factor for causing CHD (p = 0.006). The differences of the rs4531631 and rs11785481 variant contribution had no statistical significance between the groups (p >0.05). In conclusion, our results revealed that the rs28362491 and rs2277923 gene polymorphisms, but not the rs4531631 and rs11785481 polymorphisms, may contribute to CHD risk in a cohort of Greek CHD patients.


2021 ◽  
Vol 8 ◽  
Author(s):  
Wangkai Liu ◽  
Liangping Cheng ◽  
Ken Chen ◽  
Jialing Wu ◽  
Rui Peng ◽  
...  

Congenital heart defects (CHDs) represent the most common human birth defects. Our previous study indicates that the malfunction of microRNAs (miRNAs) in cardiac neural crest cells (NCCs), which contribute to the development of the heart and the connected great vessels, is likely linked to the pathogenesis of human CHDs. In this study, we attempt to further search for causative single-nucleotide variants (SNVs) from CHD patients that mediate the mis-regulating of miRNAs on their downstream target genes in the pathogenesis of CHDs. As a result, a total of 2,925 3′UTR SNVs were detected from a CHD cohort. In parallel, we profiled the expression of miRNAs in cardiac NCCs and found 201 expressed miRNAs. A combined analysis with these data further identified three 3′UTR SNVs, including NFATC1 c.*654C>T, FGFRL1 c.*414C>T, and CTNNB1 c.*729_*730insT, which result in the malfunction of miRNA-mediated gene regulation. The dysregulations were further validated experimentally. Therefore, our study indicates that miRNA-mediated gene dysregulation in cardiac NCCs could be an important etiology of congenital heart disease, which could lead to a new direction of diagnostic and therapeutic investigation on congenital heart disease.


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