Cardiac KATP Channels in Health and Diseases
Figure 16–1. The structural basis of KATP channels. (a) KATP channels are formed from Kir6 (left) and SUR (right) subunits. Kir6 subunits each consist of two transmembrane helices (M1, M2),…
Ca2+ Release Channels (Ryanodine Receptors) and Arrhythmogenesis
Figure 17–1. Excitation-contraction coupling in the heart. With the advent of an action potential, L-ype Ca2+ channels are activated resulting in the influx of Ca2+. This influx of Ca2+ activates…
Short QT Syndrome
1999 Discovery of family with SQTS (Bjerregaard P, 1999, personal communication) 2000 Paper describing SQTS (Gussak et al. [1]) 2003 High incidence of SCD in families with SQTS (Gaita et…
Mechanisms of Action of Antiarrhythmic Drugs in Atrial Fibrillation
Figure 8–1. Factors involved in the initiation of atial fibrillation (AF) and pharmocological options to prevent the initiation of this arrhythmia The maintenance of AF is facilitated by the development…
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,…
