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The Genetics of Cardiac Disease Associated with Sudden Cardiac Death

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Presentation on theme: "The Genetics of Cardiac Disease Associated with Sudden Cardiac Death"— Presentation transcript:

1 The Genetics of Cardiac Disease Associated with Sudden Cardiac Death
Mark J. Perrin, Michael H. Gollob  The Journal of Molecular Diagnostics  Volume 14, Issue 5, Pages (September 2012) DOI: /j.jmoldx Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

2 Figure 1 Mechanisms of familial cardiac disease associated with sudden cardiac death. Two myocytes are shown (bridged by a desmosome). A single sarcomere is represented with titin anchored to the Z-disk (squiggly lines) and spanning the full length of the contractile unit. The thin filaments (light gray) are attached at a single Z-disk, whereas the thick filaments (dark gray) span the M-line. Calsequestrin (CSQ) is shown anchored to the ryanodine receptor (RYR2) on the sarcoplasmic reticulum by junctin (jun) and triadin (tri). The three principal ionic currents responsible for SQTS and LQTS are pictured on the upper membrane (IKr, rapid delayed rectifier potassium current; IKs, slow delayed rectifier potassium current; INa, voltage gated sodium current) along with representative cardiac action potentials (black action potential is control) and the phenotype of SQTS and LQTS on the surface ECG. DADs, delayed after depolarizations; DSC2, desmocollin 2; DSG2, desmoglein 2; DSP, desmoplakin; NCX, sodium-calcium exchanger channel; PKP2, plakophilin 2. The Journal of Molecular Diagnostics  , DOI: ( /j.jmoldx ) Copyright © 2012 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions


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