Human Genetics of Total Anomalous Pulmonary Venous Return
Fig. 29.1 3-D reconstructions of human embryos. Approximate gestational age 8 weeks (crown-rump length 18 m, Carnegie stage 14). Frontal views. The heart and part of the left atrial dorsal…
Clinical Presentation and Therapy of Total Anomalous Pulmonary Venous Return
Fig. 28.1 Diagrammatic representation of supracardiac totally anomalous pulmonary venous return. The pulmonary veins drain to a left vertical vein that then connects to the innominate vein. The color scheme…
Molecular Pathways and Animal Models of Atrioventricular Septal Defect
© Springer-Verlag Wien 2016Silke Rickert-Sperling, Robert G. Kelly and David J. Driscoll (eds.)Congenital Heart Diseases: The Broken Heart10.1007/978-3-7091-1883-2_27 27. Molecular Pathways and Animal Models of Atrioventricular Septal Defect Andy Wessels1 (1) Department of Regenerative Medicine and Cell…
Human Genetics of Atrioventricular Septal Defect
Gene Protein variant Function Phenotypes Reference ACVR2B p.Arg40His ND ubAVSD, CVM, HTX, AVSD, TGA [25] ALK2 p.His286Asp Reduced BMP signaling pAVSD, DS [18] CFC1 p.Ala145Thr ND AVSD, HPE [27] CRELD1…
Clinical Presentation and Therapy of Atrioventricular Septal Defect
Fig. 25.1 Diagrammatic representation of a complete atrioventricular septal defect on the left. Note that instead of a mitral and a tricuspid valve, there is only one large atrioventricular valve….
Post-transcriptional Regulation by Proteins and Non-coding RNAs
Fig. 13.1 Graphical representation of the distinct posttranscriptional regulatory mechanisms operating during the transcription, splicing, editing, quality control checking, and maturation of mRNA transcripts Fig. 13.2 Graphical representation of the…
Neural Crest
Fig. 4.1 (a) Derivatives of the cardiac neural crest cells (CNCC). CNCCs originate in the dorsal neural tube and migrate to pharyngeal arches 3, 4, and 6 and into outflow…
Human Genetics of Ventricular Septal Defect
Cytoband CNV start (hg18) CNV end (hg18) Size Copy number Candidate genes References 1q21.1 22q11.2 144723763 19389671 1574 kb 406 kb Deletion Duplication ACP6, BCL9, CHD1L, FMO5, GJA5, PRKAB2 CRKL…
Establishment of Cardiac Laterality
Fig. 7.1 Specification of cardiac asymmetry. (a) Cilia generated leftward flow at the embryonic node initiate an asymmetric signaling cascade in which nodal, lefty2, and pitx2 are expressed exclusively in…
Clinical Presentation and Therapy of Ventricular Septal Defect
Fig. 22.1 Diagrammatic representation of the types and locations of VSDs. The anterior surface of the heart has been removed, revealing the ventricular septum as viewed from the right side….
