Prevalence and severity of "benign" mutations in the β-myosin heavy chain, cardiac troponin T, and α-tropomyosin genes in hypertrophic cardiomyopathy

Circulation

Volumn 106, Issue 24, 2002, Pages 3085-3090

  Van Driest, Sara L ^a   Ackerman, Michael J ^a   Ommen, Steve R ^a   Shakur, Rameen ^b   Will, Melissa L ^a   Nishimura, Rick A ^a   Tajik, A Jamil ^a   Gersh, Bernard J ^a  

^a MAYO CLINIC   (United States)

^b Guggenheim 501 ^*

Author keywords

Cardiomyopathy; Death, sudden; Genetics; Hypertrophy

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; DNA DETERMINATION; DNA SEQUENCE; FAMILY HISTORY; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HEART TRANSPLANTATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFANT; INFORMED CONSENT; MAJOR CLINICAL STUDY; MYOMECTOMY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROGNOSIS; SEQUENCE ANALYSIS; SUDDEN DEATH; SURVIVAL;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CARDIOMYOPATHY, HYPERTROPHIC; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MINNESOTA; MUTATION; MYOSIN HEAVY CHAINS; PREDICTIVE VALUE OF TESTS; PREVALENCE; TROPOMYOSIN; TROPONIN T; VENTRICULAR MYOSINS;

EID: 0037058868     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.0000042675.59901.14     Document Type: Article

References (32)

1. Maron BJ, Epstein SE. Hypertrophic cardiomyopathy: A discussion of nomenclature. Am J Cardiol. 1979;43:1242-1244. Editorial.
2. Maron BJ, Bonow RO, Cannon RO, et al. Hypertrophic cardiomyopathy: Interrelations of clinical manifestations, pathophysiology, and therapy (I). N Engl J Med. 1987;316:780-789.
3. 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.
4. Maron BJ. Hypertrophic cardiomyopathy: A systematic review. JAMA. 2002;287:1308-1320.
5. Spirito P, Seidman CE, McKenna WJ, et al. The management of hypertrophic cardiomyopathy. N Engl J Med. 1997;336:775-785.
6. Seidman JG, Seidman C. The genetic basis for cardiomyopathy: Front mutation identification to mechanistic paradigms. Cell. 2001;104: 557-567.
7. Familial Hypertrophic Cardiomyopathy Mutation Database. Available at: Http://www.angis.org.au/Databases/Heart/heartbreak.html. Accessed October 30, 2002.
8. Marian AJ, Roberts R. Molecular genetic basis of hypertrophic cardiomyopathy: Genetic markers for sudden cardiac death. J Cardiovasc Electrophysiol. 1998;9:88-99.
9. Roberts R, Sigwart U. New concepts in hypertrophic cardiomyopathies, part I. Circulation. 2001;104:2113-2116.
10. Anan R, Greve G, Thierfelder L, et al. Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J Clin Invest. 1994;93:280-285.
11. Hwang T, Lee W, Kimura A, et al. Early expression of a malignant phenotype of familial hypertrophic cardiomyopathy associated with a Gly716Arg myosin heavy chain mutation in a Korean family. Am J Cardiol. 1998;82:1509-1513.
12. Fananapazir L, Epstein ND. Genotype-phenotype correlations in hypertrophic cardiomyopathy: Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations. Circulation. 1994;89:22-32.
13. Watkins H, Rosenzweig A, Hwang DS, et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med. 1992;326:1108-1114.
14. Marian AJ, Mares A Jr, Kelly DP, 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.
15. Consevage MW, Salada GC, Baylen BG, et al. A new missense mutation. Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy. Hum Mol Gen. 1994;3: 1025-1026.
16. Ho CY, Lever HM, DeSanctis R, et al. Homozygous mutation in cardiac troponin-T: Implications for hypertrophic cardiomyopathy. Circulation. 2000;102:1950-1955.
17. Coviello DA, Maron BJ, Spirito P, et al. Clinical features of hypertrophic cardiomyopathy caused by mutation of a "hot spot" in the alpha-tropomyosin gene. J Am Coll Cardiol. 1997;29:635-640.
18. Havndrup O, Bundgaard H, Andersen PS, et al. The Va1606 Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age. Am J Cardiol. 2001;87:1315-1317.
19. Epstein ND, Cohn GM, Cyran F, et al. Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the β-myosin heavy chain gene: A 908Leu→Val mutation and a 403Arg→Gln mutation. Circulation. 1992;86:345-352.
20. Arbustini E, Fasani R, Morbini P, et al. Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure [published erratum appears in Heart 1999;81:3301]. Heart. 1998;80:548-558.
21. Underhill PA, Jin L, Lin AA, et al. Detection of numerous chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography. Genome Res. 1997;7:996-1005.
22. Ackerman MJ, Schroeder JJ, Berry R, et al. A novel mutation in KVLQTI is the molecular basis of inherited long QT syndrome in a near-drowning patient's family. Pediatr Res. 1998;44:148-153.
23. St. John Sutton M, Epstein JA. Hypertrophic cardiomyopathy: Beyond the sarcomere. N Engl J Med. 1998:338:1303-1304. Editorial.
24. Abchee A, Marian AJ. Prognostic significance of beta-myosin heavy chain mutations is reflective of their hypertrophic expressivity in patients with hypertrophic cardiomyopathy. J Invest Med. 1997;45:191-196.
25. Watkins H, McKenna WJ, Thierfelder L, et al. Mutations in the genes for cardiac troponin-T and alpha-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med. 1995;332:1058-1064.
26. Bryant R., Hypertrophic cardiomyopathy in children. Cardiol Rev. 1999; 7:92-100.
27. Waldmuller S, Freund P, Mauch S, et al. Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy. Hum Mutat. 2002;19:560-569.
28. Ackerman MJ, Van Driest SV, Ommen SR, et al. Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin-T genes in hypertrophic cardiomyopathy: A comprehensive outpatient perspective. J Am Coll Cardiol. 2002;39:2042-2048.
29. Ackerman MJ, Clapham DE. Ion channels: Basic science and clinical disease [published erratum appears in N Engl J Med. 1997;337:579]. N Engl J Med. 1997;336:1575-1586.
30. Maron BJ, Olivotto I, Spirito P, et al. Epidemiology of hypertrophic cardiomyopathy-related death: Revisited in a large non-referral-based patient population. Circulation. 2000;102:858-864.
31. Niimura H, Patton KK, McKenna WJ, et al. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation. 2002;105:446-451.
32. Van Driest SL, Will ML, Atkins DL, et al. A novel TPM1 mutation in a family with hypertrophic cardiomyopathy and sudden cardiac death in childhood. Am J Cardiol. 2002;90:1123-1127.