L-Type Calcium Channel Disease
Figure 12–1. Predicted topology of Cav1.2 and its resulting proteins related to TS pathophysiology. Mutations found in Timothy syndrome (red dots) interact with channel phosphorylation leading to a sort of…
Single Nucleotide Polymorphisms in Health and Cardiac Disease
Polymorphism type Sequence location Predicted protein and potential functional effects Occurrence in genome Potential disease impact Nonsense Coding Prematurely truncated, most likely loss of protein function Very low High Missense,…
Genetics of Atrial Fibrillation and Standstill
Gene/chromosome MOI Nr. Fam Type AF Age Ethnicity HR (A)symp TCM QTc (ms) Mechanism I. No locus and gene identified FAF 1-3 [8] AD 3 PAF 38–51 ? High symp…
Andersen-Tawil and Timothy Syndromes
2. Sansone V, Griggs RC, Meola G, et al. Andersen’s syndrome: a distinct periodic paralysis. Ann Neurol. 1997;42:305–12.PubMedCrossRef 3. Plaster NM, Tawil R, Tristani-Firouzi M, et al. Mutations in Kir2.1…
Sodium Ion Channelopathies
Figure 11–1. Schematic representation of the voltage gated Na+ channel α(alpha)-subunit and β(Beta)-subunits. (a) The α(alpha)-subunit consists of four domains (D1–D4), each composed of six membrane-spanning segments (S1–S6) linked by…
Introduction to Part Two: Celebrating the Challenge of Cardiac Arrhythmias
Ihor Gussak and Charles Antzelevitch (eds.)Electrical Diseases of the Heart2nd ed. 2013Volume 1: Basic Foundations and Primary Electrical Diseases10.1007/978-1-4471-4881-4_26© Springer-Verlag London 2013 26. Introduction to Part Two: Celebrating the Challenge of Cardiac Arrhythmias Jeffrey A. Towbin1, 2,…
Electrophysiological Remodeling in Heart Failure
2. Tomaselli GF, Beuckelmann DJ, Calkins HG, Berger RD, Kessler PD, Lawrence JH, Kass D, Feldman AM, Marban E. Sudden cardiac death in heart failure. The role of abnormal repolarization….
Senescence and Arrhythmogenesis
9. Roberts-Thomson KC, Kistler PM, Sanders P, Morton JB, Haqqani HM, Stevenson I, et al. Fractionated atrial electrograms during sinus rhythm: relationship to age, voltage, and conduction velocity. Heart Rhythm….
Cardiac ATP-Sensitive Potassium Channels and Associated Channelopathies
Figure 15–1. Structure and function of ventricular sarcolemmal KATP channel complexes. The pore-forming Kir6.2 subunit assembles with the regulatory SUR2A protein (containing nucleotide-binding domains NBD1/NBD2 with Walker A/B motifs and…
Pathological Roles of the Cardiac Sodium Channel Late Current (Late INa)
Figure 10–1. Effect of an abnormally increased late Na+ current (late I Na ) to cause prolongation of the action potential duration and the QT interval in the electrocardiogram (ECG),…
