Genetics of hypertrophic cardiomyopathy: One, two, or more diseases?

Current Opinion in Cardiology

Volumn 22, Issue 3, 2007, Pages 193-199

  Bos, J Martijn ^a   Ommen, Steve R ^a   Ackerman, Michael J ^a  

^a MAYO CLINIC   (United States)

Author keywords

Genetic testing; Hypertrophic cardiomyopathy; Myofilament; Septal morphology

Indexed keywords

ARTICLE; CLINICAL PRACTICE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GLYCOGEN STORAGE DISEASE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MYOFILAMENT; PATHOGENESIS; PRIORITY JOURNAL; SARCOMERE;

CARDIOMYOPATHY, HYPERTROPHIC; DEATH, SUDDEN, CARDIAC; GENETIC RESEARCH; GENOTYPE; HEART SEPTUM; HUMANS; MICROFILAMENTS; MUTATION; PHENOTYPE;

EID: 34147201740     PISSN: 02684705     EISSN: None     Source Type: Journal    
DOI: 10.1097/HCO.0b013e3280e1cc7f     Document Type: Article

References (70)

1. Maron BJ. Hypertrophic cardiomyopathy: a systematic review. JAMA 2002; 287:1308-1320.
2. Teare D. Asymmetrical hypertrophy of the heart in young adults. Br Heart J 1958; 20:1-8.
3. Abelmann WH. Classification and natural history of primary myocardial disease. Prog Cardiovasc Dis 1984; 27:73-94.
4. Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. Br Heart J 1980; 44:672-673.
5. Braunwald E, Lambrew CT, Rockoff SD, et al. Idiopathic hypertrophic subaortic stenosis. I. A description of the disease based upon an analysis of 64 patients. Circulation 1964; 30 (Suppl 4):3-119.
6. Pollick C, Morgan CD, Gilbert BW, et al. Muscular subaortic stenosis: the temporal relationship between systolic anterior motion of the anterior mitral leaflet and the pressure gradient. Circulation 1982; 66:1087-1094.
7. Schoendube FA, Klues HG, Reith S, et al. Long-term clinical and echocardiographic follow-up after surgical correction of hypertrophic obstructive cardiomyopathy with extended myectomy and reconstruction of the subvalvular mitral apparatus. Circulation 1995; 92 (9 Suppl):II122-II127.
8. Richardson P, McKenna W, Bristow M, et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the definition and classification of cardiomyopathies. Circulation 1996; 93:841-842.
9. Maron BJ, McKenna WJ, Danielson GK, 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 PracticeGuidelines. J Am Coll Cardiol 2003; 42:1687-1713.
10. Maron BJ, Towbin JA, Thiene G, et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation 2006; 113:1807-1816. Recent American Heart Association scientific statement providing a proposal defining and classifying primary cardiomyopathies and their most important subgroups.
11. Jarcho JA, McKenna W, Pare JA, et al. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med 1989; 321:1372-1378.
12. Geisterfer-Lowrance AA, 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.
13. Poetter K, Jiang H, 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.
14. Watkins H, Conner D, Thierfelder L, et al. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet 1995; 11:434-437.
15. Thierfelder L, Watkins H, MacRae C, Lamas R, et al. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 1994; 77:701-712.
16. 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.
17. Olson TM, Karst ML, Whitby FG, Driscoll DJ. Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology. Circulation 2002; 105:2337-2340.
18. Mogensen J, Klausen IC, Pedersen AK, et al. Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest 1999; 103:R39-R43.
19. Satoh M, Takahashi M, Sakamoto T, et al. Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. Biochem Biophys Res Commun 1999; 262:411-417.
20. Niimura H, Bachinski LL, Sangwatanaroj S, et al. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med 1998; 338:1248-1257.
21. 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.
22. 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.
23. 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.
24. Moolman JC, Corfield VA, Posen B, et al. Sudden death due to troponin T mutations. J Am Coll Cardiol 1997; 29:549-555.
25. Varnava A, Baboonian C, Davison F, et al. A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy. Heart 1999; 82:621-624.
26. 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.
27. Seidman JG, Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 2001; 104:557-567.
28. Niimura H, Patton KK, McKenna WJ, et al. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation 2002; 105:446-451.
29. Ackerman MJ, Van Driest SL, Ommen SR, et al. Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T gene in hypertrophic cardiomyopathy: a comprehensive outpatient perspective. J Am Coll Cardiol 2002; 39:2042-2048.
30. Van Driest SL, Maron BJ, Ackerman MJ. From malignant mutations to malignant domains: the continuing search for prognostic significance in the mutant genes causing hypertrophic cardiomyopathy [Comment]. Heart (British Cardiac Society) 2004; 90:7-8.
31. Van Driest SV, Ackerman MJ, Ommen SR, et al. Prevalence and severity of 'benign' mutations in the beta myosin heavy chain, cardiac troponin-T, and alpha tropomyosin genes in hypertrophic cardiomyopathy. Circulation 2002; 106:3085-3090.
32. Van Driest SL, Vasile VC, Ommen SR, et al. Myosin binding protein C mutations and compound herterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol 2004; 44:1903-1910.
33. Van Driest SL, Ommen SR, Tajik AJ, et al. Sarcomeric genotyping in hypertrophic cardiomyopathy. Mayo Clin Proc 2005; 80:463-469.
34. Geier C, Perrot A, Ozcelik C, et al. Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. Circulation 2003; 107:1390-1395.
35. Hayashi T, Arimura T, Itoh-Satoh M, et al. Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J Am Coll Cardiol 2004; 44:2192-2201.
36. Bos JM, Poley RN, Ny M, et al. Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. Mol Genet Metab 2006; 88:78-85. Genotype-phenotype analysis on a large cohort of patients with HCM analysed for mutations in three Z-disc-associated proteins.
37. Theis JL, Bos JM, Bartleson VB, et al. Echocardiographic- determined septal morphology in Z-disc hypertrophic cardiomyopathy. Biochem Biophys Res Commun 2006; 351:896-902. A comprehensive analysis of five Z-disc-associated genes in a large cohort of patients with HCM. This paper provides a genetic basis for 5-10% of patients with sigmoidal HCM.
38. Vasile VC, Will ML, Ommen SR, et al. Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy. Mol Genet Metab 2006; 87:169-174. The first paper describing the same missense mutation in one gene associated with two divergent cardiomyopathic phenotypes.
39. Vasile VC, Ommen SR, Edwards WD, Ackerman MJ. A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy. Biochem Biophys Res Commun 2006; 345:998-1003. The first paper describing a mutation in a ubiquitously expressed gene, but manifesting as a hypertrophic cardiomyopathic phenotype.
40. Minamisawa S, Sato Y, Tatsuguchi Y, et al. Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy. Biochem Biophys Res Commun 2003; 304:1-4.
41. Haghighi K, Kolokathis F, Gramolini AO, et al. A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc Natl Acad Sci U S A 2006; 103:1388-1393.
42. Fujino N, Ino H, Hayashi K, et al. A novel missense mutation in cardiac ryanodine receptor gene as a possible cause of hypertrophic cardiomyopathy: evidence from familial analysis [Abstract]. Circulation 2006; 114:II-165.
43. Arad M, Benson DW, Perez-Atayde AR, et al. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest 2002; 109:357-362.
44. Arad M, Maron BJ, Gorham JM, et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med 2005; 352:362-372.
45. Gollob MH, Green MS, Tang AS, et al. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med 2001; 344:1823-1831.
46. Blair E, Redwood C, Ashrafian H, et al. Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. Hum Mol Genet 2001; 10:1215-1220.
47. Van Driest SL, Gakh O, Ommen SR, et al. Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy. Mol Genet Metab 2005; 85:280-285.
48. Sakuraba H, Oshima A, Fukuhara Y, et al. Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. Am J Hum Genet 1990; 47:784-789.
49. Sachdev B, Takenaka T, Teraguchi H, et al. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002; 105:1407-1411.
50. Nakao S, Takenaka T, Maeda M, et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 1995; 333:288-293.
51. Song L, DePalma SR, Kharlap M, et al. Novel locus for an inherited cardiomyopathy maps to chromosome 7. Circulation 2006; 113:2186-2192.
52. Van Driest SL, Jaeger MA, Ommen SR, et al. Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 2004; 44:602-610.
53. Woo A, Rakowski H, Liew JC, et al. Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. Heart (British Cardiac Society) 2003; 89:1179-1185.
54. Richard P, Charron P, Carrier L, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003; 107:2227-2232.
55. Van Driest SL, Ellsworth EG, Ommen SR, et al. Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. Circulation 2003; 108:445-451.
56. Lever HM, Karam RF, Currie PJ, Healy BP. Hypertrophic cardiomyopathy in the elderly. Distinctions from the young based on cardiac shape. Circulation 1989; 79:580-589.
57. Solomon SD, Wolff S, Watkins H, et al. Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain gene. J Am Coll Cardiol 1993; 22:498-505.
58. Binder J, Ommen SR, Gersh BJ, et al. Echocardiography-guided genetic testing in hypertrophic cardiomyopathy: septal morphological features predict the presence of myofilament mutations. Mayo Clin Proc 2006; 81:459-467. A comprehensive analysis of an extensively genotyped and echocardiographically characterized cohort of unrelated patients with HCM showing that septal shape is the strongest predictor of myofilament mutation status. A great guide for physicians to provide relevant pretest genetic counseling about the anticipated yield of the genetic test.
59. Frank D, Kuhn C, Katus HA, Frey N. The sarcomeric Z-disc: a nodal point in signalling and disease. J Mol Med 2006; 84:446-468. A comprehensive review on the role of the Z-disc in general and in particular in its role in signaling and hypertrophic response mechanisms.
60. Pyle WG, Solaro RJ. At the crossroads of myocardial signaling: the role of Z-discs in intracellular signaling and cardiac function. Circ Res 2004; 94:296-305.
61. Knoll R, Hoshijima M, Hoffman HM, et al. The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell 2002; 111:943-955.
62. Mohapatra B, Jimenez S, Lin JH, et al. Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. Mol Genet Metab 2003; 80:207-215.
63. Olson TM, Illenberger S, Kishimoto NY, Huttelmaier S, et al. Metavinculin mutations alter actin interaction in dilated cardiomyopathy. Circulation 2002; 105:431-437.
64. Kamisago M, Sharma SD, DePalma SR, et al. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med 2000; 343:1688-1696.
65. Olson TM, Doan TP, Kishimoto NY, et al. Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. J Mol Cell Cardiol 2000; 32:1687-1694.
66. Olson TM, Kishimoto NY, Whitby FG, Michels VV. Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. J Mol Cell Cardiol 2001; 33:723-732.
67. Gerull B, Gramlich M, Atherton J, et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet 2002; 30:201-204.
68. Daehmlow S, Erdmann J, Knueppel T, et al. Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. Biochem Biophys Res Commun 2002; 298:116-120.
69. Frey N, Katus HA, Olson EN, Hill JA. Hypertrophy of the heart: a new therapeutic target? Circulation 2004; 109:1580-1589.
70. 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.