The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy

European Journal of Human Genetics

Volumn 20, Issue 10, 2012, Pages 1071-1077

  Kolder, Iris C R M ^a   Michels, Michelle ^b   Christiaans, Imke ^a   Ten Cate, Folkert J ^b   Majoor Krakauer, Danielle ^b   Danser, Alexander H J ^b   Lekanne Deprez, Robert H ^a   Tanck, Michael W T ^a   Wilde, Arthur A M ^a   Bezzina, Connie R ^a   Dooijes, Dennis ^b,c  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

cardiomyopathy; echocardiography; hypertrophic; renin angiotensin aldisterone system

Indexed keywords

ANGIOTENSINOGEN;

ADULT; ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HEART LEFT VENTRICLE HYPERTROPHY; HEART VENTRICLE SEPTUM; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MALE; MYOSIN BINDING PROTEIN C 3 GENE; PHENOTYPE; PRIORITY JOURNAL; RENIN ANGIOTENSIN ALDOSTERONE SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; TWO DIMENSIONAL ECHOCARDIOGRAPHY;

ADULT; CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; CARRIER PROTEINS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC LOCI; HETEROZYGOTE; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; MALE; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RENIN-ANGIOTENSIN SYSTEM; VENTRICULAR SEPTUM;

EID: 84866548882     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.48     Document Type: Article

References (37)

1. Maron BJ, Gardin JM, Flack JM et al: Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA study. Coronary artery risk development in (young) adults. Circulation 1995; 92: 785-789.
2. Task Force for Diagnosis and Treatment of Acute and Chronic Heart Failure of European Society of C, Dickstein K, Cohen-Solal A, Filippatos G et al: Document R. ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure 2008: the task force for the diagnosis and treatment of acute and chronic heart failure 2008 of the European Society of Cardiology. Developed in collaboration with the Heart Failure Association of the ESC (HFA) and endorsed by the European Society of Intensive Care Medicine (ESICM). Eur Heart J 2008; 29: 2388-2442.
3. Bos JM, Towbin JA, Ackerman MJ: Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy. J Am Coll Cardiol 2009; 54: 201-211.
4. Alders M, Jongbloed R, Deelen W et al: The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. Eur Heart J 2003; 24: 1848-1853. (Pubitemid 37280251)
5. van Dijk SJ, Dooijes D, dos Remedios C et al: Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phospho-rylation, and cardiomyocyte dysfunction. Circulation 2009; 119: 1473-1483.
6. Michels M, Soliman OI, Kofflard MJ et al: Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations. JACC Imaging 2009; 2: 58-64.
7. Michels M, Soliman OI, Phefferkorn J et al: Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers. Eur Heart J 2009; 30: 2593-2598.
8. Christiaans I, Birnie E, van Langen IM et al: The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening. Eur Heart J 2010; 31: 842-848.
9. Kim S, Iwao H: Molecular and cellular mechanisms of angiotensin II-mediated cardiovascular and renal diseases. Pharmacol Rev 2000; 52: 11-34. (Pubitemid 30127593)
10. Tom B, Garrelds IM, Scalbert E, Stegman APA, Boomsma F, Saxena PR, Danser AHJ: ACE-versus chymase-dependent angiotensin II generation in human coronary arteries. Arterioscler Thromb Vasc Biol 2003; 23: 251-256. (Pubitemid 36231936)
11. Chai W, Hofland J, Jansen PM et al: Steroidogenesis vs, steroid uptake in the heart: do corticosteroids mediate effects via cardiac mineralocorticoid receptors? J Hypertension 2010; 28: 1044-1053.
12. Orenes-Piñero E, Hernández-Romero D, Jover E, Valdés M, Lip GY, Marín F: Impact of polymorphisms in the renin-angiotensin- aldosterone system on hypertrophic cardiomyopathy. J Renin Angiotensin Aldosterone Syst 2011; 12: 521-530.
13. Ortlepp JR, Vosberg HP, Reith S 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. (Pubitemid 34177686)
14. Perkins MJ, Van Driest SL, Ellsworth EG 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. (Pubitemid 41552976)
15. Michels M, Hoedemaekers YM, Kofflard MJ et al: Familial screening and genetic counselling in hypertrophic cardiomyopathy: the Rotterdam experience. Neth Heart J 2007; 15: 184-190. (Pubitemid 47260412)
16. Christiaans I, Birnie E, Bonsel GJ, Wilde AA, van Langen IM: Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy. Eur J Hum Genet 2008; 16: 1201-1207.
17. McKenna WJ, Spirito P, Desnos M, Dubourg O, Komajda M: Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families. Heart 1997; 77: 130-132. (Pubitemid 27115795)
18. Wigle ED, Sasson Z, Henderson MA et al: Hypertrophic cardiomyopathy. The importance of the site and the extent of hypertrophy. A review. Prog Cardiovasc Dis 1985; 28: 1-83. (Pubitemid 15237515)
19. Elliott PM, Poloniecki J, Dickie S et al: Sudden death in hypertrophic cardiomyopathy: identification of high risk patients. J Am Coll Cardiol 2000; 36: 2212-2218.
20. Christiaans I, van Engelen K, van Langen IM et al: Risk stratification for sudden cardiac death in hypertrophic cardiomyopathy: systematic review of clinical risk markers. Europace 2010; 12: 313-321.
21. Ishanov A, Okamoto H, Yoneya K et al: Angiotensinogen gene polymorphism in Japanese patients with hypertrophic cardiomyopathy. Am Heart J 1997; 133: 184-189.
22. Corvol P, Jeunemaitre X: Molecular genetics of human hypertension: role of angio-tensinogen. Endocr rev 1997; 18: 662-677. (Pubitemid 27435539)
23. Karjalainen J, Kujala UM, Stolt A et al: Angiotensinogen gene M235T polymorphism predicts left ventricular hypertrophy in endurance athletes. J Am Coll Cardiol 1999; 34: 494-499.
24. Danser AHJ, Derkx FHM, Hense HW, Jeunemaitre X, Riegger GAJ, Schunkert H: Angiotensinogen (M235T) and angiotensin-converting enzyme (I/D) polymorphims in association with plasma renin and prorenin levels. J Hypertension 1998; 16: 1879-1883. (Pubitemid 29002363)
25. Danser AHJ, MADH Schaalekamp, Bax WA et al: Angiotensin-converting enzyme in the human heart: effect of the deletion/insertion polymorphism. Circulation 1995; 92: 1387-1388.
26. Wang JG, Staessen JA: Genetic polymorphisms in the renin-angiotensin system: relevance for susceptibility to cardiovascular disease. Eur J Pharmacol 2000; 410: 289-302. (Pubitemid 32008151)
27. Maron BJ, Casey SA, Hurrell DG, Aeppli DM: Relation of left ventricular thickness to age and gender in hypertrophic cardiomyopathy. Am J Cardiol 2003; 91: 1195-1198. (Pubitemid 36561383)
28. Maron BJ: Hypertrophic cardiomyopathy: a systematic review. JAMA 2002; 287: 1308-1320. (Pubitemid 34250486)
29. Spirito P, Bellone P, Harris KM, Bernabo P, Bruzzi P, Maron BJ: Magnitude of left ventricular hypertrophy and risk of sudden death in hypertrophic cardiomyopathy. N Engl J Med 2000; 342: 1778-1785. (Pubitemid 30390237)
30. Van Driest SL, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ: Yield of genetic testing in hypertrophic cardiomyopathy. Mayo Clin Proc 2005; 80: 739-744. (Pubitemid 40770360)
31. Olivotto I, Maron MS, Selcuk Adabag A et al: Gender-related differences in the clinical presentation and outcome of hypertrophic cardiomyopathy. J Am Coll Cardiol 2005; 45: 480-487. (Pubitemid 41040290)
32. Marsh JD, Lehmann MH, Ritchie RH, Gwathmey JK, Green GE, Schiebinger RJ: Androgen receptors mediate hypertrophy in cardiac myocytes. Circulation 1998; 98: 256-261. (Pubitemid 28337617)
33. Xin HB, Senbonmatsu T, Cheng DS et al: Oestrogen protects FKBP12.6 null mice from cardiac hypertrophy. Nature 2002; 416: 334-338.
34. Lind JM, Chiu C, Ingles J et al: Sex hormone receptor gene variation associated with phenotype in male hypertrophic cardiomyopathy patients. J Mol Cell Cardiol 2008; 45: 217-222.
35. Brugts JJ, Isaacs A, de Maat MP et al: A pharmacogenetic analysis of determinants of hypertension and blood pressure response to angiotensin- converting enzyme inhibitor therapy in patients with vascular disease and healthy individuals. J Hypertens 2011; 29: 509-519.
36. Yamazaki T, Suzuki J, Shimamoto R, Tsuji T, Ohmoto K, Nagai R: 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.
37. Penicka M, Gregor P, Kerekes R, Marek D, Curila K, Krupicka J: The effects of candesartan on left ventricular hypertrophy and function in nonobstructive hypertrophic cardiomyopathy: a pilot, randomized study. J Mol Diagn 2009; 11: 35-41.