Post-translational Modification
Name of enzyme Major cardiac phenotypes Related mechanisms References HDAC1 & 2 Double KO: Dilated cardiomyopathy, arrhythmias, and premature death HDAC1 and 2 are functionally redundant. Double KO dysregulates the…
Clinical Presentation and Therapy of Semilunar Valve and Aortic Arch Anomalies
Fig. 40.1 Pathologic specimen of a bicuspid stenotic calcified aortic valve 40.1.2 Clinical Presentation The clinical presentation of aortic valve stenosis depends upon the severity of the obstruction. The measure…
Molecular Pathways and Animal Models of d-Transposition of the Great Arteries
Fig. 36.1 Transgenic mouse model displaying transposition of the great arteries (TGA). 3D reconstructions from magnetic resonance imaging (MRI) data sets [1] (a, b) and hematoxilin and eosin-stained (H&E) sections…
Human Genetics of Tetralogy of Fallot and Double Outlet Right Ventricle
Gene Protein function Phenotype Status References Transcription factors and cofactors BCOR Transcriptional corepressor OFCD syndrome (with DORV) 2 or more independent reports [60, 61] FOXC1 Forkhead TF TOF 2 or…
Clinical Presentation and Therapy of Tetralogy of Fallot and Double Outlet Right Ventricle
Fig. 31.1 Diagrammatic representation of tetralogy of Fallot. There is VSD and obstruction to pulmonary blood flow by subpulmonary and pulmonary valve stenosis In both TOF and PA/VSD, there may…
Molecular Pathways and Animal Models of Tetralogy of Fallot and Double Outlet Right Ventricle
Fig. 33.1 Schema illustrating the progressive developmental steps during formation and remodeling of the outflow tract (OFT), together with the major cell types and developmental processes involved. HT heart, AP…
Inter- and Intracellular Signaling Pathways
Fig. 11.1 Growth factor signaling between epicardium, endocardium, and myocardium during midgestation. Details are described in the text 11.2.2 Myocardial-Endocardial Signaling The myocardium plays a strong paracrine and autocrine role…
Molecular Pathways and Animal Models of Arrhythmias
Fig. 63.1 Polymorphic ventricular arrhythmia phenotypes in mouse model. Representative ECG recordings from wild-type and ankyrin-B± mice at baseline and following exercise and treatment with adrenergic agonist. Center recording for…
Human Genetics of Arrhythmias
Fig. 62.1 Major cardiac ion channels and associated primary electrical disorders. Abbreviations: I current, ↑ current increase (gain-of-channel function), ↓ current decrease (loss-of-channel function), I K potassium current, I Na…
Molecular Pathways and Animal Models of Cardiomyopathies
Fig. 60.1 “Final common pathway” hypothesis supplemented by intra- and intercellular signaling 60.2 Compensatory Stress Regulators in Inherited Cardiomyopathy In inherited cardiomyopathies, cellular pathology originates from the initial genetic assault;…
