Human Genetics of Ebstein Anomaly
Chromosomal disorder Number of patients reported Proven or suspected causal gene(s) References Deletion 1p36 9 DVL1, SKI, RERE, PDPN, SPEN, CLCNKA, ECE1, HSPG2, LUZP1, WASF2, PRDM16, PRKCZ, UBE4B, MASP2 [12,…
Clinical Presentation and Therapy of Ebstein Anomaly
Fig. 52.1 Pathologic specimen of Ebstein anomaly (left) and echocardiographic image (right). The septal leaflet is plastered against the septum (failure of delamination), and the anterior leaflet is markedly enlarged…
Clinical Presentation and Therapy of Tricuspid Atresia and Univentricular Heart
Fig. 49.1 Illustration of the modified extracardiac Fontan operation. The superior vena cava has been disconnected from the right atrium and anastomosed to the right pulmonary artery. A graft has…
Clinical Presentation and Therapy of Truncus Arteriosus
Fig. 46.1 Diagrammatic representation of normal circulation (right panel) and truncus arteriosus (left panel). Note that in truncus arteriosus, there is only one semilunar valve and this is referred to…
Human Genetics of Truncus Arteriosus
Fig. 47.1 Cellular and molecular basis for normal and abnormal outflow tract development of the heart. The interaction of progenitor cells derived from the second heart field (SHF cells) and…
Molecular Pathways and Animal Models of Coronary Artery Anomalies
Fig. 45.1 Normal and abnormal coronary anatomy. Cartoons illustrate normal (1–3) coronary anatomy and relevant cases of coronary congenital anomalies (4–9). Asterisks indicate the specific location of myocardial bridges (7b),…
Human Genetics of Defects of Situs
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…
Clinical Presentation and Therapy of Defects of Situs
© 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,…
Human Genetics of d-Transposition of the Great Arteries
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…
Clinical Presentation and Therapy of d-Transposition of the Great Arteries
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…
