New paradigms in hypertrophic cardiomyopathy: Insights from genetics

Progress in Pediatric Cardiology - Tập 31 - Trang 93-98 - 2011
Carolyn Y. Ho1
1Cardiovascular Division, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, United States

Tài liệu tham khảo

Niimura, 1998, Mutations in the gene for cardiac myosin-binding protein C and late–onset familial hypertrophic cardiomyopathy [see comments], N Engl J Med, 338, 1248, 10.1056/NEJM199804303381802 Maron, 2004, Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy, J Am Coll Cardiol, 44, 2125, 10.1016/j.jacc.2004.08.052 Seidman, 2001, The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms, Cell, 104, 557, 10.1016/S0092-8674(01)00242-2 Richard, 2006, The genetic bases of cardiomyopathies, J Am Coll Cardiol, 48, A79, 10.1016/j.jacc.2006.09.014 Ho, 2006, A contemporary approach to hypertrophic cardiomyopathy, Circulation, 113, e858, 10.1161/CIRCULATIONAHA.105.591982 Maron, 2003, J Am Coll Cardiol, 42, 1687, 10.1016/S0735-1097(03)00941-0 Ho, 2002, Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy, Circulation, 105, 2992, 10.1161/01.CIR.0000019070.70491.6D Nagueh, 2001, Tissue Doppler imaging consistently detects myocardial abnormalities in patients with hypertrophic cardiomyopathy and provides a novel means for an early diagnosis before and independently of hypertrophy, Circulation, 104, 128, 10.1161/01.CIR.104.2.128 Germans, 2006, Structural abnormalities of the nferoseptal left ventricular wall detected by cardiac magnetic resonance imaging in carriers of hypertrophic cardiomyopathy mutations, J Am Coll Cardiol, 48, 2518, 10.1016/j.jacc.2006.08.036 Moon, 2005, Myocardial late gadolinium enhancement cardiovascular magnetic resonance in hypertrophic cardiomyopathy caused by mutations in troponin I, Heart, 91, 1036, 10.1136/hrt.2004.041384 Rubinshtein R, Glockner JF, Ommen SR, et al. Characteristics and clinical significance of late gadolinium enhancement by contrast-enhanced magnetic resonance imaging in patients with hypertrophic cardiomyopathy. Circ Heart Fail;3(1):51–8. Bruder O, Wagner A, Jensen CJ, et al. Myocardial scar visualized by cardiovascular magnetic resonance imaging predicts major adverse events in patients with hypertrophic cardiomyopathy. J Am Coll Cardiol;56(11):875–87. O'Hanlon R, Grasso A, Roughton M, et al. Prognostic significance of myocardial fibrosis in hypertrophic cardiomyopathy. J Am Coll Cardiol;56(11):867–74 Geisterfer-Lowrance, 1996, A mouse model of familial hypertrophic cardiomyopathy, Science, 272, 731, 10.1126/science.272.5262.731 Georgakopoulos, 1999, The pathogenesis of familial hypertrophic cardiomyopathy: early and evolving effects from an alpha-cardiac myosin heavy chain missense mutation [see comments], Nat Med, 5, 327, 10.1038/6549 Blanchard, 1999, Altered crossbridge kinetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy, Circ Res, 84, 475, 10.1161/01.RES.84.4.475 Spindler, 1998, Diastolic dysfunction and altered energetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy, J Clin Invest, 101, 1775, 10.1172/JCI1940 Fatkin, 2000, An abnormal Ca(2+) response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy, J Clin Invest, 106, 1351, 10.1172/JCI11093 Semsarian, 2002, The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model, J Clin Invest, 109, 1013, 10.1172/JCI200214677 Tardiff, 2005, Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes, Heart Fail Rev, 10, 237, 10.1007/s10741-005-5253-5 Debold, 2007, Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay, Am J Physiol Heart Circ Physiol, 293, H284, 10.1152/ajpheart.00128.2007 Nagueh, 2000, Tissue Doppler imaging consistently detects myocardial contraction and relaxation abnormalities, irrespective of cardiac hypertrophy, in a transgenic rabbit model of human hypertrophic cardiomyopathy, Circulation, 102, 1346, 10.1161/01.CIR.102.12.1346 Ho, 2009, Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy, Circ Cardiovasc Genet, 2, 314, 10.1161/CIRCGENETICS.109.862128 D'Hooge, 2000, Regional strain and strain rate measurements by cardiac ultrasound: principles, implementation and limitations, Eur J Echocardiogr, 1, 154, 10.1053/euje.2000.0031 Edvardsen, 2002, Quantitative assessment of intrinsic regional myocardial deformation by Doppler strain rate echocardiography in humans: validation against three-dimensional tagged magnetic resonance imaging, Circulation, 106, 50, 10.1161/01.CIR.0000019907.77526.75 Serri, 2006, Global and regional myocardial function quantification by two-dimensional strain: application in hypertrophic cardiomyopathy, J Am Coll Cardiol, 47, 1175, 10.1016/j.jacc.2005.10.061 Abraham, 2007, Role of tissue Doppler and strain echocardiography in current clinical practice, Circulation, 116, 2597, 10.1161/CIRCULATIONAHA.106.647172 Mirsky, 1973, Assessment of passive elastic stiffness for isolated heart muscle and the intact heart, Circ Res, 33, 233, 10.1161/01.RES.33.2.233 Sutherland, 2004, Strain and strain rate imaging: a new clinical approach to quantifying regional myocardial function, J Am Soc Echocardiogr, 17, 788, 10.1016/j.echo.2004.03.027 Bellavia, 2008, Evidence of impaired left ventricular systolic function by Doppler myocardial imaging in patients with systemic amyloidosis and no evidence of cardiac involvement by standard two-dimensional and Doppler echocardiography, Am J Cardiol, 101, 1039, 10.1016/j.amjcard.2007.11.047 Koyama, 2003, Longitudinal myocardial function assessed by tissue velocity, strain, and strain rate tissue Doppler echocardiography in patients with AL (primary) cardiac amyloidosis, Circulation, 107, 2446, 10.1161/01.CIR.0000068313.67758.4F Crilley, 2003, Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy, J Am Coll Cardiol, 41, 1776, 10.1016/S0735-1097(02)03009-7 Ashrafian, 2007, Reviews of translational medicine and genomics in cardiovascular disease: new disease taxonomy and therapeutic implications cardiomyopathies: therapeutics based on molecular phenotype, J Am Coll Cardiol, 49, 1251, 10.1016/j.jacc.2006.10.073 Basso, 2000, Hypertrophic cardiomyopathy and sudden death in the young: pathologic evidence of myocardial ischemia, Hum Pathol, 31, 988, 10.1053/hupa.2000.16659 Shirani, 2000, Morphology and significance of the left ventricular collagen network in young patients with hypertrophic cardiomyopathy and sudden cardiac death, J Am Coll Cardiol, 35, 36, 10.1016/S0735-1097(99)00492-1 Choudhury, 2002, Myocardial scarring in asymptomatic or mildly symptomatic patients with hypertrophic cardiomyopathy, J Am Coll Cardiol, 40, 2156, 10.1016/S0735-1097(02)02602-5 Varnava, 2001, Relation between myocyte disarray and outcome in hypertrophic cardiomyopathy, Am J Cardiol, 88, 275, 10.1016/S0002-9149(01)01640-X Varnava, 2000, Hypertrophic cardiomyopathy: the interrelation of disarray, fibrosis, and small vessel disease, Heart, 84, 476, 10.1136/heart.84.5.476 Kim, 2007, Polony multiplex analysis of gene expression (PMAGE) in mouse hypertrophic cardiomyopathy, Science, 316, 1481, 10.1126/science.1137325 Ho, 2010, Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy, N Engl J Med, 363, 552, 10.1056/NEJMoa1002659 Teekakirikul, 2010, Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-beta, J Clin Invest, 10.1172/JCI42028 Lim, 2001, Angiotensin II blockade reverses myocardial fibrosis in a transgenic mouse model of human hypertrophic cardiomyopathy, Circulation, 103, 789, 10.1161/01.CIR.103.6.789 Patel, 2001, Simvastatin induces regression of cardiac hypertrophy and fibrosis and improves cardiac function in a transgenic rabbit model of human hypertrophic cardiomyopathy, Circulation, 104, 317, 10.1161/hc2801.094031 Tsybouleva, 2004, Aldosterone, through novel signaling proteins, is a fundamental molecular bridge between the genetic defect and the cardiac phenotype of hypertrophic cardiomyopathy, Circulation, 109, 1284, 10.1161/01.CIR.0000121426.43044.2B Marian, 2006, Antifibrotic effects of antioxidant N-acetylcysteine in a mouse model of human hypertrophic cardiomyopathy mutation, J Am Coll Cardiol, 47, 827, 10.1016/j.jacc.2005.10.041 Araujo, 2005, Effect of Losartan on left ventricular diastolic function in patients with nonobstructive hypertrophic cardiomyopathy, Am J Cardiol, 96, 1563, 10.1016/j.amjcard.2005.07.065 Bauersachs, 2007, HMG CoA reductase inhibition and left ventricular mass in hypertrophic cardiomyopathy: a randomized placebo-controlled pilot study, Eur J Clin Investig, 37, 852, 10.1111/j.1365-2362.2007.01877.x Kawano, 2005, Valsartan decreases type I collagen synthesis in patients with hypertrophic cardiomyopathy, Circ J, 69, 1244, 10.1253/circj.69.1244 Penicka, 2009, The effects of candesartan on left ventricular hypertrophy and function in nonobstructive hypertrophic cardiomyopathy: a pilot, randomized study, J Mol Diagn, 11, 35, 10.2353/jmoldx.2009.080082