keyword
https://read.qxmd.com/read/38884750/the-genetics-of-human-congenital-coronary-vascular-anomalies
#41
REVIEW
Almudena Ortiz Garrido, Beatriz Picazo, Juan Antonio Guadix, Adrián Ruiz-Villalba, José M Pérez-Pomares
The genetics of human congenital coronary vascular anomalies (hCCVA) remains largely underresearched. This is surprising, because although coronary vascular defects represent a relatively small proportion of human congenital heart disease (CHD), hCCVAs are clinically significant conditions. Indeed, hCCVA frequently associate to other congenital cardiac structural defects and may even result in sudden cardiac death in the adult. In this brief chapter, we will attempt to summarize our current knowledge on the topic, also proposing a rationale for the development of novel approaches to the genetics of hCCVA...
2024: Advances in Experimental Medicine and Biology
https://read.qxmd.com/read/38884748/molecular-pathways-and-animal-models-of-semilunar-valve-and-aortic-arch-anomalies
#42
REVIEW
Eleanor Gill, Simon D Bamforth
The great arteries of the vertebrate carry blood from the heart to the systemic circulation and are derived from the pharyngeal arch arteries. In higher vertebrates, the pharyngeal arch arteries are a symmetrical series of blood vessels that rapidly remodel during development to become the asymmetric aortic arch arteries carrying oxygenated blood from the left ventricle via the outflow tract. At the base of the aorta, as well as the pulmonary trunk, are the semilunar valves. These valves each have three leaflets and prevent the backflow of blood into the heart...
2024: Advances in Experimental Medicine and Biology
https://read.qxmd.com/read/38884747/human-genetics-of-semilunar-valve-and-aortic-arch-anomalies
#43
REVIEW
Matina Prapa, Siew Yen Ho
Lesions of the semilunar valve and the aortic arch can occur either in isolation or as part of well-described clinical syndromes. The polygenic cause of calcific aortic valve disease will be discussed including the key role of NOTCH1 mutations. In addition, the complex trait of bicuspid aortic valve disease will be outlined, both in sporadic/familial cases and in the context of associated syndromes, such as Alagille, Williams, and Kabuki syndromes. Aortic arch abnormalities particularly coarctation of the aorta and interrupted aortic arch, including their association with syndromes such as Turner and 22q11 deletion, respectively, are also discussed...
2024: Advances in Experimental Medicine and Biology
https://read.qxmd.com/read/38884746/clinical-presentation-and-therapy-of-semilunar-valve-and-aortic-arch-anomalies
#44
REVIEW
Nikolaus A Haas, David J Driscoll, Silke Rickert-Sperling
The following semilunar valve defects and aortic arch anomalies are called simple defects because there is a single problem that can be well described. Based on the degree of malformation and hemodynamic consequence, these simple lesions can however be life threatening immediately after birth. They all affect either the left or right outflow tract or the aortic arch.
2024: Advances in Experimental Medicine and Biology
https://read.qxmd.com/read/38884745/molecular-pathways-and-animal-models-of-defects-in-situs
#45
REVIEW
George C Gabriel, Cecilia W Lo
Left-right patterning is among the least well understood of the three axes defining the body plan, and yet it is no less important, with left-right patterning defects causing structural birth defects with high morbidity and mortality, such as complex congenital heart disease, biliary atresia, or intestinal malrotation. The cell signaling pathways governing left-right asymmetry are highly conserved and involve multiple components of the TGF-β superfamily of cell signaling molecules. Central to left-right patterning is the differential activation of Nodal on the left, and BMP signaling on the right...
2024: Advances in Experimental Medicine and Biology
https://read.qxmd.com/read/38884744/human-genetics-of-defects-of-situs
#46
REVIEW
Andreas Perrot, Silke Rickert-Sperling
Defects of situs are associated with complex sets of congenital heart defects in which the normal concordance of asymmetric thoracic and abdominal organs is disturbed. The cellular and molecular mechanisms underlying the formation of the embryonic left-right axis have been investigated extensively in the past decade. This has led to the identification of mutations in at least 33 different genes in humans with heterotaxy and situs defects. Those mutations affect a broad range of molecular components, from transcription factors, signaling molecules, and chromatin modifiers to ciliary proteins...
2024: Advances in Experimental Medicine and Biology
https://read.qxmd.com/read/38884743/clinical-presentation-and-therapy-of-anomalies-of-the-situs
#47
REVIEW
Nikolaus A Haas, David J Driscoll, Silke Rickert-Sperling
Situs abnormalities may occur in many and most often more complex congenital cardiac malformations. These conditions are collectively referred to as heterotaxy syndromes, derived from the Greek words "heteros" meaning different and "taxos" meaning orientation or arrangement. Clinically, heterotaxy spectrum encompasses defects in the left-right laterality and arrangement of visceral organs. "Situs" is derived from Latin and is the place where something exists or originates. In human anatomy, situs can be solitus (derived from Latin, meaning "normal"), inversus, or ambiguus...
2024: Advances in Experimental Medicine and Biology
https://read.qxmd.com/read/38884742/molecular-pathways-and-animal-models-of-d-transposition-of-the-great-arteries
#48
REVIEW
Eleanor Gill, Simon D Bamforth
During normal cardiovascular development, the outflow tract becomes septated and rotates so that the separate aorta and pulmonary trunk are correctly aligned with the left and right ventricles, respectively. However, when this process goes wrong, the aorta and pulmonary trunk are incorrectly positioned, resulting in oxygenated blood being directly returned to the lungs, with deoxygenated blood being delivered to the systemic circulation. This is termed transposition of the great arteries (TGA). The precise etiology of TGA is not known, but the use of animal models has elucidated that genes involved in determination of the left- embryonic body axis play key roles...
2024: Advances in Experimental Medicine and Biology
https://read.qxmd.com/read/38884741/human-genetics-of-d-transposition-of-great-arteries
#49
REVIEW
Lucile Houyel
Although several genes underlying occurrence of transposition of the great arteries have been found in the mouse, human genetics of the most frequent cyanotic congenital heart defect diagnosed in neonates is still largely unknown. Development of the outflow tract is a complex process which involves the major genes of cardiac development, acting on myocardial cells from the anterior second heart field, and on mesenchymal cells from endocardial cushions. These genes, coding for transcription factors, interact with each other, and their differential expression conditions the severity of the phenotype...
2024: Advances in Experimental Medicine and Biology
https://read.qxmd.com/read/38884740/clinical-presentation-and-therapy-of-d-transposition-of-the-great-arteries
#50
REVIEW
Nikolaus A Haas, David J Driscoll, Silke Rickert-Sperling
d-Transposition of the great arteries (d-TGA) is the most common form of congenital heart disease that presents with cyanosis in a newborn. The aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle. It constitutes 3-5% of all congenital heart defects. In a simple d-TGA (about two-thirds of patients), there is no other cardiac abnormality other than a patent foramen ovale (PFO) and a patent ductus arteriosus (PDA). In a complex d-TGA additional cardiac abnormalities such as VSD, pulmonary stenosis or coronary abnormalities are present...
2024: Advances in Experimental Medicine and Biology
https://read.qxmd.com/read/38884739/molecular-pathways-and-animal-models-of-tetralogy-of-fallot-and-double-outlet-right-ventricle
#51
REVIEW
Robert G Kelly
Tetralogy of Fallot and double-outlet right ventricle are outflow tract (OFT) alignment defects situated on a continuous disease spectrum. A myriad of upstream causes can impact on ventriculoarterial alignment that can be summarized as defects in either i) OFT elongation during looping morphogenesis or ii) OFT remodeling during cardiac septation. Embryological processes underlying these two developmental steps include deployment of second heart field cardiac progenitor cells, establishment and transmission of embryonic left/right information driving OFT rotation and OFT cushion and valve morphogenesis...
2024: Advances in Experimental Medicine and Biology
https://read.qxmd.com/read/38884738/human-genetics-of-tetralogy-of-fallot-and-double-outlet-right-ventricle
#52
REVIEW
Cornelia Dorn, Andreas Perrot, Marcel Grunert, Silke Rickert-Sperling
Tetralogy of Fallot (TOF) and double-outlet right ventricle (DORV) are conotruncal defects resulting from disturbances of the second heart field and the neural crest, which can occur as isolated malformations or as part of multiorgan syndromes. Their etiology is multifactorial and characterized by overlapping genetic causes. In this chapter, we present the different genetic alterations underlying the two diseases, which range from chromosomal abnormalities like aneuploidies and structural mutations to rare single nucleotide variations affecting distinct genes...
2024: Advances in Experimental Medicine and Biology
https://read.qxmd.com/read/38884737/clinical-presentation-and-therapy-of-tetralogy-of-fallot-and-double-outlet-right-ventricle
#53
REVIEW
Nikolaus A Haas, David J Driscoll, Silke Rickert-Sperling
Tetralogy of Fallot (TOF) is the most common cyanotic heart defect. TOF consists of the combination of four anomalies (Fig. 35.1): (1) a large malalignment ventricular septal defect, (2) an obstruction of the right ventricular outflow tract (usually infundibular and valvular pulmonary stenosis with a small pulmonary valve annulus and supravalvular stenosis, (3) an aorta that "overrides" the ventricular septal defect, and (4) right ventricular hypertrophy. TOF represents 4-8% of congenital heart defects. Specific variations of TOF include all forms of pulmonary atresia with VSD and absent pulmonary valve syndrome...
2024: Advances in Experimental Medicine and Biology
https://read.qxmd.com/read/38884736/tapvr-molecular-pathways-and-animal-models
#54
REVIEW
Robert E Poelmann, Monique R M Jongbloed, Marco C DeRuiter
The venous pole of the heart where the pulmonary veins will develop encompasses the sinus venosus and the atrium. In the fourth week of development, the sinus venosus consists of a left and a right part receiving blood from the common cardinal vein, the omphalomesenteric and umbilical veins. Asymmetrical expansion of the common atrium corresponds with a rightward shift of the connection of the sinus to the atrium. The right-sided part of the sinus venosus including its tributing cardinal veins enlarges to form the right superior and inferior vena cava that will incorporate into the right atrium...
2024: Advances in Experimental Medicine and Biology
https://read.qxmd.com/read/38884734/clinical-presentation-and-therapy-of-total-anomalous-pulmonary-venous-return
#55
REVIEW
Nikolaus A Haas, David J Driscoll, Silke Rickert-Sperling
Total anomalous pulmonary venous return (TAPVR) is rare (accounting for about 1% of all CHD) and can occur as a single lesion or in combination with other types of CHD (such as heterotaxy or HLHS). TAPVR is defined as an abnormal connection where all pulmonary veins do not drain into the left atrium but into the right atrium either directly or through a vein that is connected to the right atrium. TAPVR can be divided into four anatomic groups (Fig. 32.1): (1) supracardiac (about 55%), (2) cardiac (about 30%), (3) infracardiac (about 13%), and (4) mixed (very rare)...
2024: Advances in Experimental Medicine and Biology
https://read.qxmd.com/read/38884733/molecular-pathways-and-animal-models-of-atrioventricular-septal-defect
#56
REVIEW
Andy Wessels
The development of a fully functional four-chambered heart is critically dependent on the correct formation of the structures that separate the atrial and ventricular chambers. Perturbation of this process typically results in defects that allow mixing of oxygenated and deoxygenated blood. Atrioventricular septal defects (AVSD) form a class of congenital heart malformations that are characterized by the presence of a primary atrial septal defect (pASD), a common atrioventricular valve (cAVV), and frequently also a ventricular septal defect (VSD)...
2024: Advances in Experimental Medicine and Biology
https://read.qxmd.com/read/38884732/human-genetics-of-atrioventricular-septal-defect
#57
REVIEW
Cheryl L Maslen
Atrioventricular septal defects (AVSD), also known as a common atrioventricular canal (CAVC), are clinically severe heart malformations that affect about 1 out of every 2100 live births. AVSD makes up about 5% of all congenital heart defects. AVSD is associated with cytogenetic disorders such as Down syndrome and numerous other rare genetic syndromes, but also occurs as a simplex trait. Studies in mouse models have identified over 100 genetic mutations that have the potential to cause an AVSD. However, studies in humans indicate that AVSD is genetically heterogeneous, and that the cause in humans is very rarely a single-gene defect...
2024: Advances in Experimental Medicine and Biology
https://read.qxmd.com/read/38884731/clinical-presentation-and-therapy-of-atrioventricular-septal-defect
#58
REVIEW
Nikolaus A Haas, David J Driscoll, Silke Rickert-Sperling
Atrioventricular septal defects (AVSDs) consist of a number of cardiac malformations that result from abnormal development of the endocardial cushions. AVSDs occur in 0.19 of 1000 live births and constitute 4-5 % of congenital heart defects. AVSDs can be categorized as incomplete (or partial) or complete, and intermediate or transitional.
2024: Advances in Experimental Medicine and Biology
https://read.qxmd.com/read/38884730/ventricular-septal-defects-molecular-pathways-and-animal-models
#59
REVIEW
Lucile Houyel
Ventricular septation is a complex process which involves the major genes of cardiac development, acting on myocardial cells from first and second heart fields, and on mesenchymal cells from endocardial cushions. These genes, coding for transcription factors, interact with each other, and their differential expression conditions the severity of the phenotype. In this chapter, we will describe the formation of the ventricular septum in the normal heart, as well as the molecular mechanisms leading to the four main anatomic types of ventricular septal defects: outlet, inlet, muscular, and central perimembranous, resulting from failure of development of the different parts of the ventricular septum...
2024: Advances in Experimental Medicine and Biology
https://read.qxmd.com/read/38884729/human-genetics-of-ventricular-septal-defect
#60
REVIEW
Andreas Perrot, Silke Rickert-Sperling
Ventricular septal defects (VSDs) are recognized as one of the commonest congenital heart diseases (CHD), accounting for up to 40% of all cardiac malformations, and occur as isolated CHDs as well as together with other cardiac and extracardiac congenital malformations in individual patients and families. The genetic etiology of VSD is complex and extraordinarily heterogeneous. Chromosomal abnormalities such as aneuploidy and structural variations as well as rare point mutations in various genes have been reported to be associated with this cardiac defect...
2024: Advances in Experimental Medicine and Biology
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