Familial hypertrophic cardiomyopathy: Diagnostic and therapeutic implications of recent genetic studies

Molecular Medicine Today

Volumn 2, Issue 9, 1996, Pages 387-393

  Bachinski, Linda L ^a   Roberts, Robert ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MUSCLE PROTEIN;

BIOLOGICAL MODEL; CHEMISTRY; ELECTRON MICROSCOPY; GENETIC POLYMORPHISM; GENETICS; HEART; HISTOLOGY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; METABOLISM; MORTALITY; PHENOTYPE; REVIEW;

CARDIOMYOPATHY, HYPERTROPHIC; HEART; HUMANS; MICROSCOPY, ELECTRON; MODELS, BIOLOGICAL; MUSCLE PROTEINS; PHENOTYPE; POLYMORPHISM, GENETIC;

EID: 0030227632     PISSN: 13574310     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1357-4310(96)10030-7     Document Type: Review

References (43)

1. Wynne, J. and Braunwald, E. (1992) The cardiomyopathies and myocarditides: toxic, chemical, and physical damage to the heart, in Heart Disease: A Textbook of Cardiovascular Medicine. (Vol. 4) (Braunwald, E., ed.), pp. 1394-1450, W.B. Saunders
2. Maron, B.J., Roberts, W.C. and Epstein, S.E. (1982) Sudden death in hypertrophic cardiomyopathy: a profile of 78 patients, Circulation 65, 1388-1394
3. Marian, A.J. et al. (1995) Expression of a mutation causing hypertrophic cardiomyopathy in adult feline cardiocytes disrupts sarcomere assembly in adult feline cardiac myocytes, Circ. Res. 77, 98-106
4. Marian, A.J. and Roberts, R. (1995) Recent advances in the molecular genetics of hypertrophic cardiomyopathy, Circulation 92, 1336-1347
5. Schwartz, K., Carrier, L., Cuicheney, P. and Komajda, M. (1995) Molecular basis of familial cardiomyopathies, Circulation 91, 532-540
6. Watkins, H., Seidman, J.G. and Seidman, C.E. (1995) Familial hypertrophic cardiomyopathy: a genetic model of cardiac hypertrophy, Hum. Mol. Genet. 4, 1721-1727
7. Marian, A.J. et al. (1995) Sudden cardiac death in hypertrophic cardiomyopathy: variability in phenotypic expression of β-myosin heavy chain mutations, Eur. Heart J. 16, 368-376
8. Maron, B.J., Spirito, P., Wesley, Y. and Arce, J. (1986) Development and progression of left ventricular hypertrophy in children with hypertrophic cardiomyopathy, New Engl. J. Med. 315, 610-614
9. Maron, B.J. et al. (1993) How common is hypertrophic cardiomyopathy? Echocardiography identified prevalence in a general population of young adults (The CARDIA Study), Circulation 88, I-452 (Abstr.)
10. Teare, R.D. (1958) Asymmetrical hypertrophy of the heart in young adults, Br. Heart J. 20, 1-10
11. Clark, C.E., Henry, W.L. and Epstein, S.E. (1973) Familial prevalence and genetic transmission of idiopathic hypertrophic subaortic stenosis, New Engl. J. Med. 289, 709-714
12. Maron, B.J. et al. (1984) Patterns of inheritance in hypertrophic cardiomyopathy: assessment by M-mode and two-dimensional echocardiography, Am. J. Cardiol. 53, 1087-1094
13. Greve, G. et al. (1994) Isolation of a de novo mutant myocardial βMHC protein in a pedigree with hypertrophic cardiomyopathy, Hum. Mol. Genet. 3, 2073-2075
14. Jarcho, J.A. et al. (1989) Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1, New Engl. J. Med. 321, 1372-1378
15. Geisterfer-Lawrance, A.A. et al. (1990) A molecular basis for familial hypertrophic cardiomyopathy: a β-cardiac myosin heavy chain gene missense mutation, Cell 62, 999-1006
16. Watkins, H. et al. (1992) Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy, New Engl. J. Med. 326, 1108-1114
17. Roberts, R., Marian, A.J. and Bachinski, L.L. (1994) Overview: application of molecular biology to medical genetics, in Inborn Heart Disease - Developmental Mechanisms (Vol. 1) (Markwald, R.R., Clark, E.B. and Takao, A., eds), pp. 87-111, Futura Press
18. Epstein, N.D. et al. (1992) Evidence of genetic heterogeneity in five kindreds with familial hypertrophic cardiomyopathy, Circulation 85, 635-647
19. Weissenbach, J. et al. (1992) A second generation linkage map of the human genome, Nature 359, 794-801
20. Cooperative Human Linkage Center (CHLC) (1994) A comprehensive human linkage map with centimorgan density, Science 265, 2049-2054
21. Watkins, H. et al. (1993) A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3, Nat. Genet. 3, 333-337
22. Carrier, L. et al. (1993) Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11, Nat. Genet. 4, 311-313
23. Thierfelder, L.C. et al. (1993) A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2, Proc. Natl. Acad. Sci. U. S. A. 90, 6270-6274
24. Thierfelder, L. et al. (1994) α-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere, Cell 77, 701-712
25. Watkins, H. et al. (1995) Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy, Nat. Genet. 11, 434-435
26. MacRae, C. et al. (1995) Familial hypertrophic cardiomyopathy with Wolfe-Parkinson-White syndrome maps to a locus on chromosome 7q3, J. Clin. Invest. 96, 1216-1220
27. Abchee, A.B. et al. (1995) Rapid genetic screen for common β-myosin heavy chain mutations causing familial hypertrophic cardiomyopathy, J. Am. Coll. Cardiol. 25, 26A (Abstr.)
28. Schier, J.J. and Delstein, R.S. (1982) Structural and enzymatic comparison of human cardiac muscle myosins isolated from infants, adults, and patients with hypertrophic cardiomyopathy, J. Clin. Invest. 69, 816-825
29. Cuda, G., Fananapazir, L., Epstein, N.D. and Sellers, J. (1992) Abnormal myosin in-vitro motility activity in two hypertrophic cardiomyopathy kindreds with distinct cardiac β myosin heavy chain gene mutations, Circulation 86, I-229 (Abstr.)
30. Derchi, G. et al. (1992) Plasma levels of atrial natriuretic peptide in hypertrophic cardiomyopathy, Am. J. Cardiol. 70, 1502-1504
31. Hasegawa, K. et al. (1993) Ventricular expression of brain natriuretic peptide in hypertrophic cardiomyopathy, Circulation 88, 372-380
32. Maron, B.J. et al. (1978) 'Malignant' hypertrophic cardiomyopathy: identification of a subgroup of families with unusually frequent premature death, Am. J. Cardiol. 41, 1133-1140
33. Greve, G. et al. (1993) Prognostic implications of three novel missense mutations in the β-myosin heavy chain gene in families with hypertrophic cardiomopathy, Circulation 88, I-573 (Abstr.)
34. Marian, A.J. (1995) Sudden cardiac death in patients with hypertrophic cardiomyopathy: from bench to bedside with an emphasis on genetic markers, Clin. Cardiol. 18, 189-198
35. Solomon, S.D. et al. (1993) Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the β-myosin heavy chain gene, J. Am. Coll. Cardiol. 22, 498-505
36. Roberts, R. (1994) Molecular genetics: therapy or terror? Circulation 89, 499-502
37. Anan, R. et al. (1994) Prognostic implications of novel β cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy, J. Clin. Invest. 93, 280-285
38. Schwartz, K. et al. (1990) Research in cardiac hypertrophy and failure, in Cardiac Hypertrophy and Failure (Swynghedauw, B., ed.), pp. 105-135, INSERM/John Libbey
39. Marian, A.J. et al. (1993) Angiotensin converting enzyme polymorphism in hypertrophic cardiomyopathy and sudden cardiac death, Lancet 342, 1085-1086
40. Lechin, M. et al. (1995) Angiotensin I converting enzyme genotypes and left ventricular hypertrophy in patients with hypertrophic cardiomyopathy, Circulation 92, 1808-1812
41. The SOLV Investigators (1992) Effect of enalapril on mortality and the development of heart failure in asymptomatic patients with reduced left ventricular ejection fraction, New Engl. J. Med. 327, 685-691
42. Tripodi, D., McAreavey, D., Epstein, N.D. and Fananapazir, L. (1993) Impact of implantable defibrillator in hypertrophic cardiomyopathy patients at high risk for sudden death, J. Am. Coll. Cardiol. 21, 352A (Abstr.)
43. Laurent, G.J. (1987) Dynamic state of collagen: pathways of collagen degradation in vivo and their possible role in regulation of collagen mass, Am. J. Physiol. 252, C1-C9