Sarcomere Gene Mutations Are Associated With Increased Cardiovascular Events in Left Ventricular Hypertrophy. Results From Multicenter Registration in Japan.

JACC: Heart Failure

Volumn 1, Issue 6, 2013, Pages 459-466

  Fujita, Takashi ^a   Fujino, Noboru ^a   Anan, Ryuichiro ^b   Tei, Chuwa ^b   Kubo, Toru ^c   Doi, Yoshinori ^c   Kinugawa, Shintaro ^d   Tsutsui, Hiroyuki ^d   Kobayashi, Shigeki ^e   Yano, Masafumi ^e   Asakura, Masanori ^f   Kitakaze, Masafumi ^f   Komuro, Issei ^g   Konno, Tetsuo ^a   Hayashi, Kenshi ^a   Kawashiri, Masa aki ^a   Ino, Hidekazu ^a   Yamagishi, Masakazu ^a  

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

^b KAGOSHIMA UNIVERSITY   (Japan)

^c KOCHI MEDICAL SCHOOL   (Japan)

^d HOKKAIDO UNIVERSITY   (Japan)

^e YAMAGUCHI UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^f NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

^g UNIVERSITY OF TOKYO   (Japan)

Author keywords

Heart failure; Left ventricular hypertrophy; Prognosis; Sarcomere gene mutations

Indexed keywords

ADULT; AGED; ARTICLE; CARDIOVASCULAR RISK; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HEART ATRIUM FIBRILLATION; HEART FAILURE; HEART LEFT VENTRICLE HYPERTROPHY; HEART VENTRICLE FIBRILLATION; HEART VENTRICLE TACHYCARDIA; HUMAN; HYPERTENSION; HYPERTROPHIC CARDIOMYOPATHY; JAPAN; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; PRIORITY JOURNAL; PROGNOSIS; SARCOMERE GENE; SUDDEN CARDIAC DEATH; CLINICAL TRIAL; DEATH, SUDDEN, CARDIAC; ETHNOLOGY; GENETICS; MORTALITY; MULTICENTER STUDY; MUTATION; SARCOMERE;

AGED; ATRIAL FIBRILLATION; DEATH, SUDDEN, CARDIAC; EPIDEMIOLOGIC METHODS; FEMALE; HEART FAILURE; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; JAPAN; MALE; MIDDLE AGED; MUTATION; PROGNOSIS; SARCOMERES; TACHYCARDIA, VENTRICULAR;

EID: 84889091049     PISSN: 22131779     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jchf.2013.08.007     Document Type: Article

References (33)

1. Pierdomenico S.D., Lapenna D., Cuccurullo F. Regression of echocardiographic left ventricular hypertrophy after 2 years of therapy reduces cardiovascular risk in patients with essential hypertension. Am J Hypertens 2008, 21:464-470.
2. de Simone G., Verdecchia P., Pede S., Gorini M., Maggioni A.P. Prognosis of inappropriate left ventricular mass in hypertension: the MAVI Study. Hypertension 2002, 40:470-476.
3. Levy D., Garrison R.J., Savage D.D., Kannel W.B., Castelli W.P. Prognostic implications of echocardiographically determined left ventricular mass in the Framingham Heart Study. NEngl J Med 1990, 322:1561-1566.
4. Misawa K., Nitta Y., Matsubara T., et al. Difference in coronary blood flow dynamics between patients with hypertension and those with hypertrophic cardiomyopathy. Hypertens Res 2002, 25:711-716.
5. Marian A.J., Roberts R. The molecular genetic basis for hypertrophic cardiomyopathy. JMol Cell Cardiol 2001, 33:655-670.
6. Fujino N., Shimizu M., Ino H., et al. Anovel mutation Lys273Glu in the cardiac troponin T gene shows high degree of penetrance and transition from hypertrophic to dilated cardiomyopathy. Am J Cardiol 2002, 89:29-33.
7. Kokado H., Shimizu M., Yoshio H., et al. Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene. Circulation 2000, 102:663-669.
8. Anan R., Shono H., Kisanuki A., Arima S., Nakao S., Tanaka H. Patients with familial hypertrophic cardiomyopathy caused by a Phe110Ile missense mutation in the cardiac troponin T gene have variable cardiac morphologies and a favorable prognosis. Circulation 1998, 98:391-397.
9. Kubo T., Kitaoka H., Okawa M., et al. Lifelong left ventricular remodeling of hypertrophic cardiomyopathy caused by a founder frameshift deletion mutation in the cardiac Myosin-binding protein C gene among Japanese. JAm Coll Cardiol 2005, 46:1737-1743.
10. Maron B.J., Shirani J., Poliac L.C., Mathenge R., Roberts W.C., Mueller F.O. Sudden death in young competitive athletes. Clinical, demographic, and pathological profiles. JAMA 1996, 276:199-204.
11. Monserrat L., Elliott P.M., Gimeno J.R., Sharma S., Penas-Lado M., McKenna W.J. Non-sustained ventricular tachycardia in hypertrophic cardiomyopathy: an independent marker of sudden death risk in young patients. JAm Coll Cardiol 2003, 42:873-879.
12. Maron B.J., McKenna W.J., Danielson G.K., et al. American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. JAm Coll Cardiol 2003, 42:1687-1713.
13. Lang R.M., Bierig M., Devereux R.B., et al. Recommendations for chamber quantification: a report from the American Society of Echocardiography's Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology. JAm Soc Echocardiogr 2005, 18:1440-1463.
14. Van Driest S.L., Jaeger M.A., Ommen S.R., et al. Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. JAm Coll Cardiol 2004, 44:602-610.
15. Watkins H., McKenna W.J., Thierfelder L., et al. Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. NEngl J Med 1995, 332:1058-1064.
16. Anan R., Niimura H., Takenaka T., Hamasaki S., Tei C. Mutations in the genes for sarcomeric proteins in Japanese patients with onset sporadic hypertrophic cardiomyopathy after age 40 years. Am J Cardiol 2007, 99:1750-1754.
17. Anan R., Niimura H., Minagoe S., Tei C. Anovel deletion mutation in the cardiac myosin-binding protein C gene as a cause of Maron's type IV hypertrophic cardiomyopathy. Am J Cardiol 2002, 89:487-488.
18. Hirota T., Kubo T., Kitaoka H., et al. Anovel cardiac myosin-binding protein C S297X mutation in hypertrophic cardiomyopathy. JCardiol 2010, 56:59-65.
19. Fujino N., Konno T., Hayashi K., et al. Impact of systolic dysfunction in genotyped hypertrophic cardiomyopathy. Clin Cardiol 2013, 36:160-165.
20. Moolman J.C., Corfield V.A., Posen B., et al. Sudden death due to troponin T mutations. JAm Coll Cardiol 1997, 29:549-555.
21. Ashrafian H., Watkins H. Reviews of translational medicine and genomics in cardiovascular disease: new disease taxonomy and therapeutic implications cardiomyopathies: therapeutics based on molecular phenotype. JAm Coll Cardiol 2007, 49:1251-1264.
22. Olivotto I., Girolami F., Ackerman M.J., et al. Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. Mayo Clin Proc 2008, 83:630-638.
23. Klingbeil A.U., Schneider M., Martus P., Messerli F.H., Schmieder R.E. Ameta-analysis of the effects of treatment on left ventricular mass in essential hypertension. Am J Med 2003, 115:41-46.
24. Pitt B., Reichek N., Willenbrock R., et al. Effects of eplerenone, enalapril, and eplerenone/enalapril in patients with essential hypertension and left ventricular hypertrophy: the 4E-left ventricular hypertrophy study. Circulation 2003, 108:1831-1838.
25. Okin P.M., Devereux R.B., Jern S., et al. Regression of electrocardiographic left ventricular hypertrophy during antihypertensive treatment and the prediction of major cardiovascular events. JAMA 2004, 292:2343-2349.
26. Ho C.Y., López B., Coelho-Filho O.R., et al. Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy. NEngl J Med 2010, 363:552-563.
27. Spirito P., Seidman C.E., McKenna W.J., Maron B.J. The management of hypertrophic cardiomyopathy. NEngl J Med 1997, 336:775-785.
28. Wigle E.D., Rakowski H., Kimball B.P., Williams W.G. Hypertrophic cardiomyopathy. Clinical spectrum and treatment. Circulation 1995, 92:1680-1692.
29. Maron B.J. Hypertrophic cardiomyopathy: a systematic review. JAMA 2002, 287:1308-1320.
30. Psaty B.M., Manolio T.A., Kuller L.H., et al. Incidence of and risk factors for atrial fibrillation in older adults. Circulation 1997, 96:2455-2461.
31. Morita H., Larson M.G., Barr S.C., et al. Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. Circulation 2006, 113:2697-2705.
32. Gersh B.J., Maron B.J., Bonow R.O., et al. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Developed in collaboration with the American Association for Thoracic Surgery, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons. JAm Coll Cardiol 2011, 58:e212-e260.
33. Ogihara T., Kikuchi K., Matsuoka H., et al. The Japanese Society of Hypertension Guidelines for the Management of Hypertension (JSH 2009). Hypertens Res 2009, 32:3-107.