Gene Protein function Phenotype Status References Transcription factors (TF) NKX2-5 Homeobox TF Heterotaxy, situs inversus Two or more independent reports [7, 8] GATA4 GATA binding TF Dextrocardia Single case report…
© 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_37 37. Clinical Presentation and Therapy of Defects of Situs David J. Driscoll1 (1) Division of Pediatric Cardiology, Department of Pediatrics,…
Gene name d-TGA plus other cardiac anomalies Extracardiac anomalies Familial/sporadic Reference ACVR2B P1, interrupted IVC, AVC; P2, CAVC, sub-PS, PS, interrupted IVC, azygous to SVC P1, R-sided stomach; P2, midline…
Fig. 34.1 Diagrammatic representation of transposition of the great arteries. Note that the aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle. If there…
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…
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…
© 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…
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…
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….
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…
