Interv Akut Kardiol. 2009;8(5):242-246

Genetic predisposition and risk of sudden cardiac death due to malignant arrythmias

Kamil Sedláček2, Jaroslav Hubáček1, Josef Kautzner2
1 Pracoviště experimentální medicíny, Laboratoř molekulární genetiky, IKEM, Praha
2 Klinika kardiologie, Institut klinické a experimentální medicíny, Praha

Despite significant advances in primary and secondary prevention of sudden cardiac death, risk stratification in individual patients is of

a limited value. In clinical practice, it remains restricted mainly to assessment of left ventricular ejection fraction which is the most robust

parameter among all. Advances in the field of genomic medicine open new opportunities to apply knowledge obtained through studies

of Mendelian diseases such as short or long QT syndrome for risk prediction of malignant arrhythmias in general population. Currently,

population studies are ongoing that aim at identification of genetic markers associated with increased risk of life-threatening arrhythmia

both in apparently healthy population and in patients with structural heart disease. In this article, we review current state of knowledge

in this field and identify potential practical use of genetic susceptibility markers in risk stratification of sudden cardiac death.

Keywords: sudden death, malignant arrhythmias, risk factors, genetics, mapping.

Published: November 20, 2009  Show citation

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Sedláček K, Hubáček J, Kautzner J. Genetic predisposition and risk of sudden cardiac death due to malignant arrythmias. Interv Akut Kardiol. 2009;8(5):242-246.
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References

  1. Zipes DP, Wellens HJ. Sudden cardiac death. Circulation 1998; 98: 2334-2351. Go to original source... Go to PubMed...
  2. Myerburg RJ, Kessler KM, Castellanos A. Sudden cardiac death. Structure, function, and time-dependence of risk. Circulation 1992; 85(1 Suppl): I2-I10. Go to PubMed...
  3. Sedláček K, Kořínek J, Aschermann M. Genetika a genomika. In: Aschermann, Michael, eds. Kardiologie. 1st ed. Praha: Galén, 2004: 543-558.
  4. Groch L, Grochová I. Srdce a genetika. In: Vojáček J, Kettner J, eds. Klinická kardiologie. 1st ed. Hradec Králové: Nucleus HK, 2009: 866-893.
  5. The Multicenter Postinfarction Research Group. Risk stratification and survival after myocardial infarction. N Engl J Med 1983; 309: 331-336. Go to original source... Go to PubMed...
  6. Friedlander Y, Siscovick DS, Weinmann S, et al. Family history as a risk factor for primary cardiac arrest. Circulation 1998; 97: 155-160. Go to original source... Go to PubMed...
  7. Jouven X, Desnos M, Guerot C, Ducimeti?re P. Predicting sudden death in the population: the Paris Prospective Study I. Circulation 1999; 99: 1978-1983. Go to original source... Go to PubMed...
  8. Kaikkonen KS, Kortelainen ML, Linna E, Huikuri HV. Family history and the risk of sudden cardiac death as a manifestation of an acute coronary event. Circulation 2006; 114: 1462-1467. Go to original source... Go to PubMed...
  9. Dekker LR, Bezzina CR, Henriques JP, et al. Familial sudden death is an important risk factor for primary ventricular fibrillation: a case-control study in acute myocardial infarction patients. Circulation 2006; 114: 1140-1145. Go to original source... Go to PubMed...
  10. Carter N, Snieder H, Jeffery S, Saumarez R, Varma C, Antoniades L, Spector TD. QT interval in twins. J Hum Hypertens 2000; 14: 389-390. Go to original source... Go to PubMed...
  11. Pfeufer A, Jalilzadeh S, Perz S, et al. Common variants in myocardial ion channel genes modify the QT interval in the general population: results from the KORA study. Circ Res 2005; 96: 693-701. Go to original source... Go to PubMed...
  12. Karjalainen J, Reunanen A, Ristola P, Viitasalo M. QT interval as a cardiac risk factor in a middle aged population. Heart 1997; 77: 543-548. Go to original source... Go to PubMed...
  13. Robbins J, Nelson JC, Rautaharju PM, Gottdiener JS. The association between the length of the QT interval and mortality in the Cardiovascular Health Study. Am J Med 2003; 115: 689-694. Go to original source... Go to PubMed...
  14. Perz S, Pfeufer A, Holle R, et al. Does Computerized ECG Analysis Provide Sufficiently Consistent QT Interval Estimates For Genetic Research? In: Analysis of Biomedical Signals and Images - Proceedings of the 17th Biennial International EURASIP Conference Biosignal 2004, Brno, Czech Republic, June 23-25, 2004 (Eds. J. Jan, J. Kozumplik, I. Provaznik), Vutium Press 2004: 47-49.
  15. Busjahn A, Knoblauch H, Faulhaber HD, et al. QT interval is linked to 2 long-QT syndrome loci in normal subjects. Circulation 1999; 99: 3161-3164. Go to original source... Go to PubMed...
  16. Mohler PJ, Schott JJ, Gramolini AO, et al. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 2003; 421: 634-639. Go to original source... Go to PubMed...
  17. Mohler PJ, Le Scouarnec S, Denjoy I, et al. Defining the cellular phenotype of, ,ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes. Circulation 2007; 115: 432-441. Go to original source... Go to PubMed...
  18. Sedlacek K, Stark K, Cunha SR, et al. Common Genetic Variants in ANK2 Modulate QT Interval. Results From the KORA Study. Circ Cardiovasc Genet 2008; 1: 93-99. Go to original source... Go to PubMed...
  19. Arking DE, Pfeufer A, Post W, et al. A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nat Genet 2006; 38: 644-651. Go to original source... Go to PubMed...
  20. Aarnoudse AJ, Newton-Cheh C, de Bakker PI, et al. Common NOS1AP variants are associated with a prolonged QTc interval in the Rotterdam Study. Circulation 2007; 116: 10-16. Go to original source... Go to PubMed...
  21. Pfeufer A, Sanna S, Arking DE, et al. Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet 2009; 41: 407-414. Go to original source... Go to PubMed...
  22. Newton-Cheh C, Eijgelsheim M, Rice KM, et al. Common variants at ten loci influence QT interval duration in the QTGEN Study. Nat Genet 2009; 41: 399-406. Go to original source... Go to PubMed...
  23. Kao WH, Arking DE, Post W, et al. Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations. Circulation 2009; 119: 940-951. Go to original source... Go to PubMed...
  24. Wright S. Genetic and biometric foundations In: Wright S, eds. Evolution and the genetics of populations. Vol 1. Chicago: University of Chicago Press, 1968.
  25. Morton NE. Significance levels in complex inheritance. Am J Hum Genet 1998; 62: 690-697. Go to original source... Go to PubMed...




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