(Circulation. 2001;103:2361.)
© 2001 American Heart Association, Inc.
Clinical Investigation and Reports |
Sudden Cardiac Death, Genes, and Arrhythmogenesis
Consideration of New Population and Mechanistic Approaches From a National Heart, Lung, and Blood Institute Workshop, Part I*
From the National Heart, Lung, and Blood Institute (P.M.S., R.B.), Bethesda, Md; Brigham and Women’s Hospital (C.A.), Boston, Mass; Boston University (E.J.B.), Boston, Mass; Case Western Reserve University (R.C.E.), Cleveland, Ohio; Vanderbilt University (A.L.G.), Nashville, Tenn; Hospital Boucicaut, Paris, France (X.J.); University of Pittsburgh (L.H.K.), Pittsburgh, Pa; Southwest Foundation for Biomedical Research (J.W.M.), San Antonio, Texas; Johns Hopkins Medical School (E.M.), Baltimore, Md; Harvard Medical School (J.E.M.), Boston, Mass; University of Pavia (P.J.S.) Pavia, Italy; University of Washington (D.S.S.), Seattle; University of Vermont (R.P.T.), Colchester; University of Rochester (W.Z.), Rochester, NY; and Indiana University (D.P.Z.), Indianapolis.
Correspondence to Peter M. Spooner, PhD, Director, Arrhythmias, Ischemia, and Sudden Cardiac Death, Division of Heart and Vascular Diseases, National Heart, Lung, and Blood Institute, Two Rockledge Center, Suite 9192, 6701 Rockledge Dr, MSC 7940, Bethesda, MD 20892-7940. E-mail PS48J{at}nih.gov
Abstract—Malignant ventricular arrhythmias are the leading mechanism of death in patients with acute and chronic cardiac pathologies. The extent to which inherited mutations and polymorphic variation in genes determining arrhythmogenic mechanisms affect these patients remains unknown, but based on recent population studies, this risk appears significant, deserving much greater investigation. This report summarizes a National Heart, Lung, and Blood Institute workshop that considered sources of genetic variation that may contribute to sudden cardiac death in common cardiac diseases. Evidence on arrhythmogenic mechanisms in recent population studies suggests a significant portion of the risk of sudden cardiac death in such broad populations may be unrelated to traditional risk factors for predisposing conditions such as atherosclerosis, hypertension, and diabetes and instead may involve unrecognized genetic and environmental interactions that influence arrhythmic susceptibility more directly. Additional population and genetic studies directed at discovering the sources of inherited molecular risk that are most directly linked to arrhythmia initiation and propagation, in addition to studies on previously well-described risk factors, would appear to have considerable potential for reducing premature cardiovascular mortality.
Key Words: genetics • death, sudden • arrhythmia • tachyarrhythmias • epidemiology • mortality • ion channels
This article has been cited by other articles:
 |
|
 |
|
  D. W. Wang, R. R. Desai, L. Crotti, M. Arnestad, R. Insolia, M. Pedrazzini, C. Ferrandi, A. Vege, T. Rognum, P. J. Schwartz, et al. Cardiac Sodium Channel Dysfunction in Sudden Infant Death Syndrome Circulation, January 23, 2007; 115(3): 368 - 376. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 E. Schulze-Bahr Arrhythmia Predisposition: Between Rare Disease Paradigms and Common Ion Channel Gene Variants J. Am. Coll. Cardiol., October 27, 2006; 48(9_Suppl_A): A67 - A78. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Developed in Collaboration With the European Heart, D. P. Zipes, A. J. Camm, M. Borggrefe, A. E. Buxton, B. Chaitman, M. Fromer, G. Gregoratos, G. Klein, A. J. Moss, et al. ACC/AHA/ESC 2006 Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: A Report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (Writing Committee to Develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death) J. Am. Coll. Cardiol., September 5, 2006; 48(5): e247 - e346. [Full Text] [PDF]
|
|
|
|
 |
|
 Writing Committee Members, D. P. Zipes, A. J. Camm, M. Borggrefe, A. E. Buxton, B. Chaitman, M. Fromer, G. Gregoratos, G. Klein, A. J. Moss, et al. ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: A report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (Writing Committee to Develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death) Developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society Europace, September 1, 2006; 8(9): 746 - 837. [Full Text] [PDF]
|
|
|
|
 |
|
 D. J. Milan and C. A. MacRae Animal models for arrhythmias Cardiovasc Res, August 15, 2005; 67(3): 426 - 437. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J H Sullivan, A B Schreuder, C A Trenga, S L-J Liu, T V Larson, J Q Koenig, and J D Kaufman Association between short term exposure to fine particulate matter and heart rate variability in older subjects with and without heart disease Thorax, June 1, 2005; 60(6): 462 - 466. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Josephson and H. J.J. Wellens Implantable Defibrillators and Sudden Cardiac Death Circulation, June 8, 2004; 109(22): 2685 - 2691. [Full Text] [PDF]
|
|
|
|
|
|
C. Bellocq, A. C.G. van Ginneken, C. R. Bezzina, M. Alders, D. Escande, M. M.A.M. Mannens, I. Baro, and A. A.M. Wilde Mutation in the KCNQ1 Gene Leading to the Short QT-Interval Syndrome Circulation, May 25, 2004; 109(20): 2394 - 2397. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. E. Arking, S. S. Chugh, A. Chakravarti, and P. M. Spooner Genomics in Sudden Cardiac Death Circ. Res., April 2, 2004; 94(6): 712 - 723. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. J. Ackerman, D. J. Tester, G. S. Jones, M. L. Will, C. R. Burrow, and M. E. Curran Ethnic Differences in Cardiac Potassium Channel Variants: Implications for Genetic Susceptibility to Sudden Cardiac Death and Genetic Testing for Congenital Long QT Syndrome Mayo Clin. Proc., December 1, 2003; 78(12): 1479 - 1487. [Abstract] [PDF]
|
|
|
|
 |
|
 D. E. Gutstein, S. B. Danik, J. B. Sereysky, G. E. Morley, and G. I. Fishman Subdiaphragmatic murine electrophysiological studies: sequential determination of ventricular refractoriness and arrhythmia induction Am J Physiol Heart Circ Physiol, August 7, 2003; 285(3): H1091 - H1096. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. P.M Gorgels, C. Gijsbers, J. de Vreede-Swagemakers, A. Lousberg, and H. J.J Wellens Out-of-hospital cardiac arrest-the relevance of heart failure. The Maastricht Circulatory Arrest Registry Eur. Heart J., July 1, 2003; 24(13): 1204 - 1209. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. P. Zipes Less Heart Is More Circulation, May 27, 2003; 107(20): 2531 - 2532. [Full Text] [PDF]
|
|
|
|
 |
|
 J. Sullivan, N. Ishikawa, L. Sheppard, D. Siscovick, H. Checkoway, and J. Kaufman Exposure to Ambient Fine Particulate Matter and Primary Cardiac Arrest among Persons With and Without Clinically Recognized Heart Disease Am. J. Epidemiol., March 15, 2003; 157(6): 501 - 509. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. M. Roden The problem, challenge and opportunity of genetic heterogeneity in monogenic diseases predisposing to sudden death J. Am. Coll. Cardiol., July 17, 2002; 40(2): 357 - 359. [Full Text] [PDF]
|
|
|
|
|
|
P. M. Spooner and D. P. Zipes Sudden Death Predictors: An Inflammatory Association Circulation, June 4, 2002; 105(22): 2574 - 2576. [Full Text] [PDF]
|
|
|
|
 |
|
 W. S. Rubenstein and R. I. Lopez-Soler The Genetics of Sudden Death JAMA, October 3, 2001; 286(13): 1636 - 1636. [Full Text] [PDF]
|
|