Impact of renin-angiotensin system polymorphisms on development of systolic dysfunction in hypertrophic cardiomyopathy - Evidence from a study of genotyped patients

Circulation Journal

Volumn 74, Issue 12, 2010, Pages 2674-2680

  Funada, Akira ^a   Konno, Tetsuo ^a   Fujino, Noboru ^a   Muramoto, Akihiko ^a   Hayashi, Kenshi ^a   Tsubokawa, Toshinari ^a   Sakata, Kenji ^a   Kawashiri, Masa Aki ^a   Takeda, Yoshiyu ^a   Ino, Hidekazu ^a   Yamagishi, Masakazu ^a  

^a KANAZAWA UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCE   (Japan)

Author keywords

Angiotensin converting enzyme; Hypertrophic cardiomyopathy; Left ventricular remodeling; Renin angiotensin system; Systolic dysfunction

Indexed keywords

ANGIOTENSIN 1 RECEPTOR; DIPEPTIDYL CARBOXYPEPTIDASE;

ADULT; ARTICLE; CLINICAL EVALUATION; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; ECHOCARDIOGRAPHY; FEMALE; FUNCTIONAL MORPHOLOGY; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; HEART EJECTION FRACTION; HEART LEFT VENTRICLE ENDSYSTOLIC VOLUME; HEART LEFT VENTRICLE HYPERTROPHY; HEART LEFT VENTRICLE WALL; HETEROZYGOTE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MALE; RENIN ANGIOTENSIN ALDOSTERONE SYSTEM; RISK ASSESSMENT; SYSTOLIC DYSFUNCTION;

ADULT; AGED; ALLELES; CASE-CONTROL STUDIES; ECHOCARDIOGRAPHY; FEMALE; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; INDEL MUTATION; MALE; MIDDLE AGED; PEPTIDYL-DIPEPTIDASE A; POLYMORPHISM, GENETIC; RECEPTORS, ANGIOTENSIN; RENIN-ANGIOTENSIN SYSTEM; RETROSPECTIVE STUDIES; STROKE VOLUME; VENTRICULAR FUNCTION, LEFT;

EID: 78649715673     PISSN: 13469843     EISSN: 13474820     Source Type: Journal    
DOI: 10.1253/circj.CJ-10-0482     Document Type: Article

References (33)

1. Maron BJ. Hypertrophic cardiomyopathy: A systematic review. JAMA 2002; 287: 1308-1320.
2. Elliott P, McKenna WJ. Hypertrophic cardiomyopathy. Lancet 2004; 363: 1881-1891.
3. Kubo T, Kitaoka H, Okawa M, Hirota T, Hayato K, Yamasaki N, et al. Clinical impact of atrial fibrillation in patients with hypertrophic cardiomyopathy: Results from Kochi RYOMA Study. Circ J 2009; 73: 1599-1605.
4. Harris KM, Spirito P, Maron MS, Zenovich AG, Formisano F, Lesser JR, et al. Prevalence, clinical profile, and significance of left ventricular remodeling in the end-stage phase of hypertrophic cardiomyopathy. Circulation 2006; 114: 216-225.
5. Thaman R, Gimeno JR, Murphy RT, Kubo T, Sachdev B, Mogensen J, et al. Prevalence and clinical significance of systolic impairment in hypertrophic cardiomyopathy. Heart 2005; 91: 920-925.
6. Biagini E, Coccolo F, Ferlito M, Perugini E, Rocchi G, Bacchi- Reggiani L, et al. Dilated-hypokinetic evolution of hypertrophic cardiomyopathy: Prevalence, incidence, risk factors, and prognostic implications in pediatric and adult patients. J Am Coll Cardiol 2005; 46: 1543-1550.
7. Yamamoto K, Sakata Y, Ohtani T, Takeda Y, Mano T. Heart failure with preserved ejection fraction. Circ J 2009; 73: 404-410.
8. Ortlepp JR, Vosberg HP, Reith S, Ohme F, Mahon NG, Schröder D, et al. Genetic polymorphisms in the renin-angiotensin-aldosterone system associated with expression of left ventricular hypertrophy in hypertrophic cardiomyopathy: A study of five polymorphic genes in a family with a disease causing mutation in the myosin binding protein C gene. Heart 2002; 87: 270-275.
9. Perkins MJ, Van Driest SL, Ellsworth EG, Will ML, Gersh BJ, Ommen SR, et al. Gene-specific modifying effects of pro-LVH polymorphisms involving the renin-angiotensin-aldosterone system among 389 unrelated patients with hypertrophic cardiomyopathy. Eur Heart J 2005; 26: 2457-2462.
10. Marian AJ, Mares A Jr, Kelly DP, Yu QT, Abchee AB, Hill R, et al. Sudden cardiac death in hypertrophic cardiomyopathy: Variability in phenotypic expression of beta-myosin heavy chain mutations. Eur Heart J 1995; 16: 368-376.
11. Wang JG, Staessen JA. Genetic polymorphisms in the renin-angiotensin system: Relevance for susceptibility to cardiovascular disease. Eur J Pharm 2000; 410: 289-302.
12. Maron BJ, Gottdiener JS, Epstein SE. Patterns and significance of distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy: A wide angle, two dimensional echocardiographic study of 125 patients. Am J Cardiol 1981; 48: 418-428.
13. Carrier L, Bonne G, Bährend E, Yu B, Richard P, Niel F, et al. Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. Circ Res 1997; 80: 427-434.
14. Jaenicke T, Diederich KW, Haas W, Schleich J, Lichter P, Pfordt M, et al. The complete sequence of the human ß-myosin heavy chain gene and a comparative analysis of its product. Genomics 1990; 8: 194-206.
15. Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg HP, et al. a-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere. Cell 1994; 77: 701-712.
16. Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M, et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet 1997; 16: 379-382.
17. Lechin M, Quiñones MA, Omran A, Hill R, Yu QT, Rakowski H, et al. Angiotensin-I converting enzyme genotypes and left ventricular hypertrophy in patients with hypertrophic cardiomyopathy. Circulation 1995; 92: 1808-1812.
18. Doolan G, Nguyen L, Chung J, Ingles J, Semsarian C. Progression of left ventricular hypertrophy and the angiotensin-converting enzyme gene polymorphism in hypertrophic cardiomyopathy. Int J Cardiol 2004; 96: 157-163.
19. Osterop AP, Kofflard MJ, Sandkuijl LA, ten Cate FJ, Krams R, Schalekamp MA, et al. AT1 receptor A/C1166 polymorphism contributes to cardiac hypertrophy in subjects with hypertrophic cardiomyopathy. Hypertension 1998; 32: 825-830.
20. Ogimoto A, Hamada M, Nakura J, Miki T, Hiwada K. Relation between angiotensin-converting enzyme II genotype and atrial fibrillation in Japanese patients with hypertrophic cardiomyopathy. J Hum Genet 2002; 47: 184-189.
21. Takami S, Katsuya T, Rakugi H, Sato N, Nakata Y, Kamitani A, et al. Angiotensin II type 1 receptor gene polymorphism is associated with increase of left ventricular mass but not with hypertension. Am J Hypertens 1998; 11: 316-321.
22. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, et al. Hypertrophic cardiomyopathy: Distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003; 107: 2227-2232.
23. CardioGenomics. http://cardiogenomics.med.harvard.edu/home (accessed 27 April, 2010).
24. Fujino N, Shimizu M, Ino H, Okeie K, Yamaguchi M, Yasuda T, et al. Cardiac troponin T Arg92Trp mutation and progression from hypertrophic to dilated cardiomyopathy. Clin Cardiol 2001; 24: 397-402.
25. Rigat B, Hubert C, Alhenc-Gelas F, Cambien F, Corvol P, Soubrier F. An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half of the variance of serum enzyme levels. J Clin Invest 1990; 86: 1343-1346.
26. van Geel PP, Pinto YM, Voors AA, Buikema H, Oosterga M, Crijns HJ, et al. Angiotensin II type 1 receptor A1166C gene polymorphism is associated with an increase response to angiotensin II in human arteries. Hypertension 2000; 35: 717-721.
27. McLeod CJ, Bos JM, Theis JL, Edwards WD, Gersh BJ, Ommen SR, et al. Histologic characterization of hypertrophic cardiomyopathy with and without myofilament mutations. Am Heart J 2009; 158: 799-805.
28. Lim DS, Lutucuta S, Bachireddy P, Youker K, Evans A, Entman M, et al. Angiotensin II blockade reverses myocardial fibrosis in a transgenic mouse model of human hypertrophic cardiomyopathy. Circulation 2001; 103: 789-791.
29. Araujo AQ, Arteaga E, Ianni BM, Buck PC, Rabello R, Mady C. Effect of Losartan on left ventricular diastolic function in patients with nonobstructive hypertrophic cardiomyopathy. Am J Cardiol 2005; 96: 1563-1567.
30. Yamazaki T, Suzuki J, Shimamoto R, Tsuji T, Ohmoto-Sekine Y, Ohtomo K, et al. A new therapeutic strategy for hypertrophic nonobstructive cardiomyopathy in humans: A randomized and prospective study with an angiotensin II receptor blocker. Int Heart J 2007; 48: 715-724.
31. Kimura A. Molecular etiology and pathogenesis of hereditary cardiomyopathy. Circ J 2008; 72: A-38-A-48.
32. Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Chudley AE, McKenna W, et al. Mutations in the gene for cardiac myosinbinding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med 1998; 338: 1248-1257.
33. Kokado H, Shimizu M, Yoshio H, Ino H, Okeie K, Emoto Y, et al. Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene. Circulation 2000; 102: 663-669.