Advances in molecular genetics and management of hypertrophic cardiomyopathy

JAMA

Volumn 281, Issue 18, 1999, Pages 1746-1752

  Fananapazir, Lameh ^a,b  

^a NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; ARTIFICIAL HEART PACEMAKER; CASE REPORT; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; HEART CATHETERIZATION; HEART DEATH; HEART LEFT VENTRICLE OUTFLOW TRACT OBSTRUCTION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MOLECULAR GENETICS; PENETRANCE; PRIORITY JOURNAL; SUDDEN DEATH;

EID: 0033549060     PISSN: 00987484     EISSN: None     Source Type: Journal    
DOI: 10.1001/jama.281.18.1746     Document Type: Article

References (37)

1. Fananapazir L, Epstein ND. Prevalence of hypertrophic cardiomyopathy and limitations of screening methods. Circulation. 1995;92:700-704.
2. Wigle ED, Rakowski H, Kimball BP, Williams WG. Hypertrophic cardiomyopathy: clinical spectrum and treatment. Circulation. 1995;92:1680-1692.
3. Fananapazir L, McAreavey D, Epstein ND. Hypertrophic cardiomyopathy. In: Zipes D, Jalife J, eds. Cardiac Electrophysiology, From Cell to Bedside. Philadelphia: WB Saunders Co; 1995:769-779.
4. Fananapazir L, McAreavey D. Hypertrophic cardiomyopathy: evaluation and treatment of patients at high risk for sudden death. Pacing Clin Electrophysiol. 1997;20:478-501.
5. Geisterfer-Lowrance AAT, Kass S, Tanigawa G, et al. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell. 1990;62:999-1006.
6. Thierfelder L, Watkins H, MacRae C, et al. Alphatropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell. 1994;77:701-712.
7. Bonne G, Carrier L, Bercovici J, et al. Cardiac myosin binding protein-C splice receptor mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet. 1995;11:438-440.
8. Poetter K, Jiang He, Hassanzadeh S, et al. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat Genet. 1996;13: 63-69.
9. Kimura A, Harada H, Park JE, et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet. 1997;16: 379-382.
10. MacRae CA, Ghaisas N, Kass S, et al. Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3. J Clin Invest. 1995;96:1216-1220.
11. Bonne G, Carrier L, Richard P, Hainque B, Schwartz K. Familial hypertrophic cardiomyopathy: from mutations to functional defects. Circ Res. 1998;83: 580-593.
12. Epstein ND, Cohn GM, Cyran F, Fananapazir L. 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.
13. Fananapazir L, Epstein ND. Genotype-phenotype correlations in hypertrophic cardiomyopathy: insights provided by comparisons of kindreds with distinct and identical β-myosin heavy chain gene mutations. Circulation. 1994;89:22-32.
14. Rayment I, Holden HM, Sellers J, Fananapazir L, Epstein ND. Structural interpretation of the mutations in the β-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A. 1995;92:3364-3868.
15. Cuda G, Fananapazir L, Zhu WS, Sellers JR, Epstein ND. Skeletal muscle expression and abnormal function of β-myosin in hypertrophic cardiomyopathy. J Clin Invest. 1993;91:2861-2865.
16. Lankford EB, Sweeney HL, Epstein ND, Fananapazir L. Abnormal contractile properties of muscle fibers expressing mutations in β-myosin in patients with hypertrophic cardiomyopathy. J Clin Invest. 1995;95: 1409-1414.
17. Cuda G, Fananapazir L, Epstein ND, Sellers JR. The in vitro motility activity of β-cardiac myosin depends on the nature of the β-myosin heavy-chain gene mutation in hypertrophic cardiomyopathy. J Muscle Res Cell Motil. 1997;18:1-9.
18. Fananapazir L, Dalakas MC, Cyran F, Cohn G, Epstein ND. Missense mutations in the β-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A. 1993;90: 3993-3997.
19. Kramer CM, Reichek N, Ferrari VA, Theobald T, Dawson J, Axel L. Regional heterogeneity of function in hypertrophic cardiomyopathy. Circulation. 1994;90:186-194.
20. Rigat B, Hubert C, Allenc-Gellas F, Cambien F, Corvol P, Soubrier F. An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels. J Clin Invest. 1990;86:1343-1346.
21. Lechin M, Yu QT, Workman R, Greve G, Roberts R. Angiotensin-converting enzyme polymorphism in hypertrophic cardiomyopathy [abstract]. Circulation. 1994;90(suppl 1):1-174.
22. Fananapazir L, Masters S, Winkler J, et al. ACE gene polymorphism and ACE levels as determinants of left ventricular hypertrophy in hypertrophic cardiomyopathy caused by β-myosin heavy-chain mutations [abstract]. Circulation. 1996;94:1-110.
23. Molkentin JD, Lu J, Antos C, et al. A calcineurin-dependent transcriptional pathway for cardiac hypertrophy. Cell. 1998;93:215-228.
24. 2+: implications of mutations causal for familial hypertrophic cardiomyopathy. Basic Res Cardiol. 1997;92:63-74.
25. Sussman MA, Lim HW, Gude N, et al. Prevention of cardiac hypertrophy in mice by calcineurin inhibition. Science. 1998;281:1690-1693.
26. Fananapazir L, Chang AC, Epstein SE, McAreavey D. Prognostic determinants in hypertrophic cardiomyopathy: prospective evaluation of a therapeutic strategy based on clinical, Holter, hemodynamic, and electrophysiologic findings. Circulation. 1992;86: 730-740.
27. Fananapazir L, Leon MB, Cannon RO, Bonow RO, Winkler J, Epstein SE. Sudden death during empiric amiodarone therapy in symptomatic patients with hypertrophic cardiomyopathy. Am J Cardiol. 1991;67: 169-174.
28. O'Donoghue S, Platia E, Mispireta L, et al. Safety of defibrillator implantation in patients with hypertrophic cardiomyopathy [abstract]. J Am Coll Cardiol. 1994;23:11.
29. Zhu DW, Sun H, Hill R, Roberts R. The value of electrophysiology study and prophylactic implantation of cardioverter defibrillator in patients with hypertrophic cardiomyopathy. Pacing Clin Electrophysiol. 1998;21(1 pt 2):299-302.
30. Dilsizian V, Bonow RO, Epstein SE, Fananapazir L. Myocardial ischemia detected by Thallium scintigraphy is frequently related to cardiac arrest and syncope in young patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 1993;22:796-804.
31. Fananapazir L, McAreavey D. Therapeutic options in patients with obstructive HCM and severe drug-refractory symptoms. J Am Coll Cardiol. 1998;31: 259-264.
32. Fananapazir L, Atiga W, Tripodi D, Steele S, McAreavey D. Obstructive hypertrophic cardiomyopathy: therapeutic options. In: Barold SS, Mugica J, eds. Advances in Cardiac Pacing: Goals for the 21st Century. Vol 4. Armonk, NY: Futurea Publishing Co; 1998:35-48.
33. Sigwart U. Non-surgical myocardial reduction for hypertrophic obstructive cardiomyopathy. Lancet. 1995;346:211-214.
34. Geitzen F, Leuner C, Gerenkamp T, Kuhn H. Transcoronary ablation of septal hypertrophy: a new catheter interventional therapy of hypertrophic obstructive cardiomyopathy. Circulation.1996;94(suppl 1):184.
35. Seggewiss H, Gleichmann U, Faber L, et al. Percutaneous transluminal myocardial ablation (PTSMA) in hypertrophic obstructive cardiomyopathy: acute results and 3-month follow-up in 25 patients. J Am Coll Cardiol. 1998;31:252-258.
36. Lakkis NM, Nagueh SF, Kleiman NS, et al. Echocardiographic-guided ethanol septal reduction for hypertrophic obstructive cardiomyopathy. Circulation. 1998;98:1750-1755.
37. Faber L, Seggewiss H, Gleichmann U. Percutaneous transluminal septal myocardial ablation in hypertrophic obstructive cardiomyopathy. Circulation. 1998;98:2515-2421.