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2013 | OriginalPaper | Buchkapitel

PREDESTINATION: PRimary vEntricular fibrillation and suDden dEath during a firST myocardIal iNfArcTION: Genetic Basis

verfasst von : Gaetano M. De Ferrari, Valentina De Regibus, Vincenzo Gionti, Daniela Civardi, Roberto Insolia, Matteo Pedrazzini, Davide Gentilini, Annamaria Di Blasio, Lia Crotti, Peter J. Schwartz

Erschienen in: New Diagnostic, Therapeutic and Organizational Strategies for Acute Coronary Syndromes Patients

Verlag: Springer Milan

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Abstract

Sudden cardiac death (SCD) is the leading cause of death in the age group 20–65 years, in the western world, with an enormous social and economic impact. The majority of the cases of ventricular fibrillation (VF) occur in patients without a preexisting structural heart disease and represent the first manifestation of coronary artery disease. In most of these cases, VF occurs in the early phase of myocardial infarction (MI) and it is then called primary VF. Although several factors have been associated in various studies with primary VF a recent meta-analysis found no evidence for risk factors other than ST elevation and time from onset of symptoms.
In the past several years, few studies have found that a family history of sudden cardiac death (SCD) is a risk factor for primary VF suggesting that this dramatic event may be favored by the genetic background. To explore this possibility we designed the ongoing PREDESTINATION Study, enrolling subjects under 75 years of age with a first MI complicated by primary VF and a control group of subjects with a first uncomplicated MI.
Data so far available confirm the association between a family history of SCD and primary VF and suggest that hypokalemia and prolonged QT interval may favor its occurrence. The genetic analysis has already provided some interesting suggestions that will need to be confirmed by the continuation of the enrolment and joint analysis with data deriving from similar patient populations.

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Literatur
1.
Zurück zum Zitat De Vreede-Swagemakers, J.J., Gorgels, A.P., Dubois-Arbouw, W.I., Van Ree, J.W., Daemen, M.J., Houben, L.G., Wellens, H.J.: Out-of-hospital cardiac arrest in the 1990’s: a population-based study in the Maastricht area on incidence, characteristics and survival. J. Am. Coll. Cardiol. 30, 1500–1505 (1997)CrossRef De Vreede-Swagemakers, J.J., Gorgels, A.P., Dubois-Arbouw, W.I., Van Ree, J.W., Daemen, M.J., Houben, L.G., Wellens, H.J.: Out-of-hospital cardiac arrest in the 1990’s: a population-based study in the Maastricht area on incidence, characteristics and survival. J. Am. Coll. Cardiol. 30, 1500–1505 (1997)CrossRef
2.
Zurück zum Zitat Gheeraert, P.J., De Buyzere, M.L., Taeymans, Y.M., Gillebert, T.C., Henriques, J.P., De Backer, G., De Bacquer, D.: Risk factors for primary ventricular fibrillation during acute myocardial infarction: a systematic review and meta-analysis. Eur. Heart J. 27, 2499–2510 (2006)CrossRef Gheeraert, P.J., De Buyzere, M.L., Taeymans, Y.M., Gillebert, T.C., Henriques, J.P., De Backer, G., De Bacquer, D.: Risk factors for primary ventricular fibrillation during acute myocardial infarction: a systematic review and meta-analysis. Eur. Heart J. 27, 2499–2510 (2006)CrossRef
3.
Zurück zum Zitat Friedlander, Y., Siscovick, D.S., Weinmann, S., Austin, M.A., Psaty, B.M., Lemaitre, R.N., Arbogast, P., Raghunathan, T.E., Cobb, L.A.: Family history as a risk factor for primary cardiac arrest. Circulation 97, 155–160 (1998)CrossRef Friedlander, Y., Siscovick, D.S., Weinmann, S., Austin, M.A., Psaty, B.M., Lemaitre, R.N., Arbogast, P., Raghunathan, T.E., Cobb, L.A.: Family history as a risk factor for primary cardiac arrest. Circulation 97, 155–160 (1998)CrossRef
4.
Zurück zum Zitat Jouven, X., Desnos, M., Guerot, C., Ducimetière, P.: Predicting sudden death in the population: the Paris prospective study I. Circulation 99, 1978–1983 (1999)CrossRef Jouven, X., Desnos, M., Guerot, C., Ducimetière, P.: Predicting sudden death in the population: the Paris prospective study I. Circulation 99, 1978–1983 (1999)CrossRef
5.
Zurück zum Zitat Dekker, L.R., Bezzina, C.R., Henriques, J.P., Tanck, M.W., Koch, K.T., Alings, M.W., Arnold, A.E., de Boer, M.J., Gorgels, A.P., Michels, H.R., Verkerk, A., Verheugt, F.W., Zijlstra, F., Wilde, A.A.: Familial sudden death is an important risk factor for primary ventricular fibrillation: a case–control study in acute myocardial infarction patients. Circulation 114, 1140–1145 (2006)CrossRef Dekker, L.R., Bezzina, C.R., Henriques, J.P., Tanck, M.W., Koch, K.T., Alings, M.W., Arnold, A.E., de Boer, M.J., Gorgels, A.P., Michels, H.R., Verkerk, A., Verheugt, F.W., Zijlstra, F., Wilde, A.A.: Familial sudden death is an important risk factor for primary ventricular fibrillation: a case–control study in acute myocardial infarction patients. Circulation 114, 1140–1145 (2006)CrossRef
6.
Zurück zum Zitat Kaikkonen, K.S., Kortelainen, M.L., Linna, E., Huikuri, H.V.: Family history and the risk of sudden cardiac death as a manifestation of an acute coronary event. Circulation 114, 1462–1467 (2006)CrossRef Kaikkonen, K.S., Kortelainen, M.L., Linna, E., Huikuri, H.V.: Family history and the risk of sudden cardiac death as a manifestation of an acute coronary event. Circulation 114, 1462–1467 (2006)CrossRef
7.
Zurück zum Zitat Schwartz, P.J., Wolf, S.: QT interval prolongation as predictor of sudden death in patients with myocardial infarction. Circulation 57, 1074–1077 (1978)CrossRef Schwartz, P.J., Wolf, S.: QT interval prolongation as predictor of sudden death in patients with myocardial infarction. Circulation 57, 1074–1077 (1978)CrossRef
8.
Zurück zum Zitat Clausen, T.G., Brocks, K., Ibsen, H.: Hypokalemia and ventricular arrhythmias in acute myocardial infarction. Acta Med. Scand. 224, 531–537 (1988)CrossRef Clausen, T.G., Brocks, K., Ibsen, H.: Hypokalemia and ventricular arrhythmias in acute myocardial infarction. Acta Med. Scand. 224, 531–537 (1988)CrossRef
9.
Zurück zum Zitat Nordrehaug, J.E., von der Lippe, G.: Hypokalaemia and ventricular fibrillation in acute myocardial infarction. Br. Heart J. 50, 525–529 (1983)CrossRef Nordrehaug, J.E., von der Lippe, G.: Hypokalaemia and ventricular fibrillation in acute myocardial infarction. Br. Heart J. 50, 525–529 (1983)CrossRef
10.
Zurück zum Zitat Nordrehaug, J.E., Johannessen, K.A., von der Lippe, G.: Serum potassium concentration as a risk factor of ventricular arrhythmias early in acute myocardial infarction. Circulation 71, 645–649 (1985)CrossRef Nordrehaug, J.E., Johannessen, K.A., von der Lippe, G.: Serum potassium concentration as a risk factor of ventricular arrhythmias early in acute myocardial infarction. Circulation 71, 645–649 (1985)CrossRef
11.
Zurück zum Zitat Krizanova, O., Orlicky, J., Masanova, C.S., Juhaszova, M., Hudecova, S.: Angiotensin I modulates Ca-transport systems in the rat heart through angiotensin II. J. Mol. Cell. Cardiol. 29, 1739–1746 (1997)CrossRef Krizanova, O., Orlicky, J., Masanova, C.S., Juhaszova, M., Hudecova, S.: Angiotensin I modulates Ca-transport systems in the rat heart through angiotensin II. J. Mol. Cell. Cardiol. 29, 1739–1746 (1997)CrossRef
12.
Zurück zum Zitat Harada, K., Komuro, I., Hayashi, D., Sugaya, T., Murakami, K., Yazaki, Y.: Angiotensin II type 1a receptor is involved in the occurrence of reperfusion arrhythmias. Circulation 97, 315–317 (1998)CrossRef Harada, K., Komuro, I., Hayashi, D., Sugaya, T., Murakami, K., Yazaki, Y.: Angiotensin II type 1a receptor is involved in the occurrence of reperfusion arrhythmias. Circulation 97, 315–317 (1998)CrossRef
13.
Zurück zum Zitat Ozer, M.K., Sahna, E., Birincioglu, M., Acet, A.: Effects of captopril and losartan on myocardial ischemia-reperfusion induced arrhythmias and necrosis in rats. Pharmacol. Res. 45, 257–263 (2002)CrossRef Ozer, M.K., Sahna, E., Birincioglu, M., Acet, A.: Effects of captopril and losartan on myocardial ischemia-reperfusion induced arrhythmias and necrosis in rats. Pharmacol. Res. 45, 257–263 (2002)CrossRef
14.
Zurück zum Zitat Wang, Y.H., Shi, C.X., Dong, F., Sheng, J.W., Xu, Y.F.: Inhibition of the rapid component of the delayed rectifier potassium current in ventricular myocytes by angiotensin II via the AT1 receptor. Br. J. Pharmacol. 154, 429–439 (2008)CrossRef Wang, Y.H., Shi, C.X., Dong, F., Sheng, J.W., Xu, Y.F.: Inhibition of the rapid component of the delayed rectifier potassium current in ventricular myocytes by angiotensin II via the AT1 receptor. Br. J. Pharmacol. 154, 429–439 (2008)CrossRef
15.
Zurück zum Zitat Yarbrough, T.L., Lu, T., Lee, H.C., Shibata, E.F.: Localization of cardiac sodium channels in caveolin-rich membrane domains: regulation of sodium current amplitude. Circ. Res. 90, 443–449 (2002)CrossRef Yarbrough, T.L., Lu, T., Lee, H.C., Shibata, E.F.: Localization of cardiac sodium channels in caveolin-rich membrane domains: regulation of sodium current amplitude. Circ. Res. 90, 443–449 (2002)CrossRef
16.
Zurück zum Zitat Barbuti, A., Gravante, B., Riolfo, M., Milanesi, R., Terragni, B., DiFrancesco, D.: Localization of pacemaker channels in lipid rafts regulates channel kinetics. Circ. Res. 94, 1325–1331 (2004)CrossRef Barbuti, A., Gravante, B., Riolfo, M., Milanesi, R., Terragni, B., DiFrancesco, D.: Localization of pacemaker channels in lipid rafts regulates channel kinetics. Circ. Res. 94, 1325–1331 (2004)CrossRef
17.
Zurück zum Zitat Bossuyt, J., Taylor, B.E., James-Kracke, M., Hale, C.C.: The cardiac sodium-calcium exchanger associates with caveolin-3. Ann. N. Y. Acad. Sci. 976, 197–204 (2002)CrossRef Bossuyt, J., Taylor, B.E., James-Kracke, M., Hale, C.C.: The cardiac sodium-calcium exchanger associates with caveolin-3. Ann. N. Y. Acad. Sci. 976, 197–204 (2002)CrossRef
18.
Zurück zum Zitat Fujimoto, T., Nakade, S., Miyawaki, A., Mikoshiba, K., Ogawa, K.: Localization of inositol 1,4,5-trisphosphate receptor-like protein in plasmalemmal caveolae. J. Cell Biol. 119, 1507–1513 (1992)CrossRef Fujimoto, T., Nakade, S., Miyawaki, A., Mikoshiba, K., Ogawa, K.: Localization of inositol 1,4,5-trisphosphate receptor-like protein in plasmalemmal caveolae. J. Cell Biol. 119, 1507–1513 (1992)CrossRef
19.
Zurück zum Zitat Lockwich, T.P., Liu, X., Singh, B.B., Jadlowiec, J., Weiland, S., Ambudkar, I.S.: Assembly of Trp1 in a signaling complex associated with caveolin-scaffolding lipid raft domains. J. Biol. Chem. 275, 11934–11942 (2000)CrossRef Lockwich, T.P., Liu, X., Singh, B.B., Jadlowiec, J., Weiland, S., Ambudkar, I.S.: Assembly of Trp1 in a signaling complex associated with caveolin-scaffolding lipid raft domains. J. Biol. Chem. 275, 11934–11942 (2000)CrossRef
20.
Zurück zum Zitat Fujimoto, T.: Calcium pump of the plasma membrane is localized in caveolae. J. Cell Biol. 120, 1147–1157 (1993)CrossRef Fujimoto, T.: Calcium pump of the plasma membrane is localized in caveolae. J. Cell Biol. 120, 1147–1157 (1993)CrossRef
21.
Zurück zum Zitat Vatta, M., Ackerman, M.J., Ye, B., Makielski, J.C., Ughanze, E.E., Taylor, E.W., Tester, D.J., Balijepalli, R.C., Foell, J.D., Li, Z., Kamp, T.J., Towbin, J.A.: Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation 114, 2104–2112 (2006)CrossRef Vatta, M., Ackerman, M.J., Ye, B., Makielski, J.C., Ughanze, E.E., Taylor, E.W., Tester, D.J., Balijepalli, R.C., Foell, J.D., Li, Z., Kamp, T.J., Towbin, J.A.: Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation 114, 2104–2112 (2006)CrossRef
22.
Zurück zum Zitat Crotti, L., Monti, M.C., Insolia, R., Peljto, A., Goosen, A., Brink, P.A., Greenberg, D.A., Schwartz, P.J., George Jr., A.L.: NOS1AP is a genetic modifier of the long-QT syndrome. Circulation 120, 1657–1663 (2009)CrossRef Crotti, L., Monti, M.C., Insolia, R., Peljto, A., Goosen, A., Brink, P.A., Greenberg, D.A., Schwartz, P.J., George Jr., A.L.: NOS1AP is a genetic modifier of the long-QT syndrome. Circulation 120, 1657–1663 (2009)CrossRef
23.
Zurück zum Zitat Kao, W.H., Arking, D.E., Post, W., Rea, T.D., Sotoodehnia, N., Prineas, R.J., Bishe, B., Doan, B.Q., Boerwinkle, E., Psaty, B.M., Tomaselli, G.F., Coresh, J., Siscovick, D.S., Marbán, E., Spooner, P.M., Burke, G.L., Chakravarti, A.: Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations. Circulation 119, 940–951 (2009)CrossRef Kao, W.H., Arking, D.E., Post, W., Rea, T.D., Sotoodehnia, N., Prineas, R.J., Bishe, B., Doan, B.Q., Boerwinkle, E., Psaty, B.M., Tomaselli, G.F., Coresh, J., Siscovick, D.S., Marbán, E., Spooner, P.M., Burke, G.L., Chakravarti, A.: Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations. Circulation 119, 940–951 (2009)CrossRef
24.
Zurück zum Zitat Newton-Cheh, C., Guo, C.Y., Wang, T.J., O’Donnell, C.J., Levy, D., Larson, M.G.: Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study. BMC Med. Genet. 8(Suppl 1), S7 (2007)CrossRef Newton-Cheh, C., Guo, C.Y., Wang, T.J., O’Donnell, C.J., Levy, D., Larson, M.G.: Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study. BMC Med. Genet. 8(Suppl 1), S7 (2007)CrossRef
25.
Zurück zum Zitat Pfeufer, A., Sanna, S., Arking, D.E., Müller, M., Gateva, V., Fuchsberger, C., Ehret, G.B., Orrú, M., Pattaro, C., Köttgen, A., Perz, S., Usala, G., Barbalic, M., Li, M., Pütz, B., Scuteri, A., Prineas, R.J., Sinner, M.F., Gieger, C., Najjar, S.S., Kao, W.H., Mühleisen, T.W., Dei, M., Happle, C., Möhlenkamp, S., Crisponi, L., Erbel, R., Jöckel, K.H., Naitza, S., Steinbeck, G., Marroni, F., Hicks, A.A., Lakatta, E., Müller-Myhsok, B., Pramstaller, P.P., Wichmann, H.E., Schlessinger, D., Boerwinkle, E., Meitinger, T., Uda, M., Coresh, J., Kääb, S., Abecasis, G.R., Chakravarti, A.: Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat. Genet. 41, 407–414 (2009)CrossRef Pfeufer, A., Sanna, S., Arking, D.E., Müller, M., Gateva, V., Fuchsberger, C., Ehret, G.B., Orrú, M., Pattaro, C., Köttgen, A., Perz, S., Usala, G., Barbalic, M., Li, M., Pütz, B., Scuteri, A., Prineas, R.J., Sinner, M.F., Gieger, C., Najjar, S.S., Kao, W.H., Mühleisen, T.W., Dei, M., Happle, C., Möhlenkamp, S., Crisponi, L., Erbel, R., Jöckel, K.H., Naitza, S., Steinbeck, G., Marroni, F., Hicks, A.A., Lakatta, E., Müller-Myhsok, B., Pramstaller, P.P., Wichmann, H.E., Schlessinger, D., Boerwinkle, E., Meitinger, T., Uda, M., Coresh, J., Kääb, S., Abecasis, G.R., Chakravarti, A.: Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat. Genet. 41, 407–414 (2009)CrossRef
26.
Zurück zum Zitat Bezzina, C.R., Pazoki, R., Bardai, A., Marsman, R.F., de Jong, J.S., Blom, M.T., Scicluna, B.P., Jukema, J.W., Bindraban, N.R., Lichtner, P., Pfeufer, A., Bishopric, N.H., Roden, D.M., Meitinger, T., Chugh, S.S., Myerburg, R.J., Jouven, X., Kääb, S., Dekker, L.R., Tan, H.L., Tanck, M.W., Wilde, A.A.: Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction. Nat. Genet. 42, 688–691 (2010)CrossRef Bezzina, C.R., Pazoki, R., Bardai, A., Marsman, R.F., de Jong, J.S., Blom, M.T., Scicluna, B.P., Jukema, J.W., Bindraban, N.R., Lichtner, P., Pfeufer, A., Bishopric, N.H., Roden, D.M., Meitinger, T., Chugh, S.S., Myerburg, R.J., Jouven, X., Kääb, S., Dekker, L.R., Tan, H.L., Tanck, M.W., Wilde, A.A.: Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction. Nat. Genet. 42, 688–691 (2010)CrossRef
27.
Zurück zum Zitat Bowles, N.E., Richardson, P.J., Olsen, E.G., Archard, L.C.: Detection of Coxsackie-B-virus-specific RNA sequences in myocardial biopsy samples from patients with myocarditis and dilated cardiomyopathy. Lancet 1, 1120–1123 (1986)CrossRef Bowles, N.E., Richardson, P.J., Olsen, E.G., Archard, L.C.: Detection of Coxsackie-B-virus-specific RNA sequences in myocardial biopsy samples from patients with myocarditis and dilated cardiomyopathy. Lancet 1, 1120–1123 (1986)CrossRef
28.
Zurück zum Zitat Pauschinger, M., Bowles, N.E., Fuentes-Garcia, F.J., Pham, V., Kühl, U., Schwimmbeck, P.L., Schultheiss, H.P., Towbin, J.A.: Detection of adenoviral genome in the myocardium of adult patients with idiopathic left ventricular dysfunction. Circulation 99, 1348–1354 (1999)CrossRef Pauschinger, M., Bowles, N.E., Fuentes-Garcia, F.J., Pham, V., Kühl, U., Schwimmbeck, P.L., Schultheiss, H.P., Towbin, J.A.: Detection of adenoviral genome in the myocardium of adult patients with idiopathic left ventricular dysfunction. Circulation 99, 1348–1354 (1999)CrossRef
29.
Zurück zum Zitat Lisewski, U., Shi, Y., Wrackmeyer, U., Fischer, R., Chen, C., Schirdewan, A., Jüttner, R., Rathjen, F., Poller, W., Radke, M.H., Gotthardt, M.: The tight junction protein CAR regulates cardiac conduction and cell-cell communication. J. Exp. Med. 205, 2369–2379 (2008)CrossRef Lisewski, U., Shi, Y., Wrackmeyer, U., Fischer, R., Chen, C., Schirdewan, A., Jüttner, R., Rathjen, F., Poller, W., Radke, M.H., Gotthardt, M.: The tight junction protein CAR regulates cardiac conduction and cell-cell communication. J. Exp. Med. 205, 2369–2379 (2008)CrossRef
30.
Zurück zum Zitat Lim, B.K., Xiong, D., Dorner, A., Youn, T.J., Yung, A., Liu, T.I., Gu, Y., Dalton, N.D., Wright, A.T., Evans, S.M., Chen, J., Peterson, K.L., McCulloch, A.D., Yajima, T., Knowlton, K.U.: Coxsackievirus and adenovirus receptor (CAR) mediates atrioventricular-node function and connexin 45 localization in the murine heart. J. Clin. Invest. 118, 2758–2770 (2008)CrossRef Lim, B.K., Xiong, D., Dorner, A., Youn, T.J., Yung, A., Liu, T.I., Gu, Y., Dalton, N.D., Wright, A.T., Evans, S.M., Chen, J., Peterson, K.L., McCulloch, A.D., Yajima, T., Knowlton, K.U.: Coxsackievirus and adenovirus receptor (CAR) mediates atrioventricular-node function and connexin 45 localization in the murine heart. J. Clin. Invest. 118, 2758–2770 (2008)CrossRef
Metadaten
Titel
PREDESTINATION: PRimary vEntricular fibrillation and suDden dEath during a firST myocardIal iNfArcTION: Genetic Basis
verfasst von
Gaetano M. De Ferrari
Valentina De Regibus
Vincenzo Gionti
Daniela Civardi
Roberto Insolia
Matteo Pedrazzini
Davide Gentilini
Annamaria Di Blasio
Lia Crotti
Peter J. Schwartz
Copyright-Jahr
2013
Verlag
Springer Milan
DOI
https://doi.org/10.1007/978-88-470-5379-3_6