Normal passive viscoelasticity but abnormal myofibrillar force generation in human hypertrophic cardiomyopathy

Watkins, 1995, Familial hypertrophic cardiomyopathy: a genetic model of cardiac hypertrophy, Hum Mol Genet, 4, 1721, 10.1093/hmg/4.suppl_1.1721 Maron, 2002, Hypertrophic cardiomyopathy: a systematic review, JAMA, 287, 1308, 10.1001/jama.287.10.1308 Elliott, 2004, Hypertrophic cardiomyopathy, Lancet, 363, 1881, 10.1016/S0140-6736(04)16358-7 Van Driest, 2004, Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy, J Am Coll Cardiol, 44, 1903, 10.1016/j.jacc.2004.07.045 Theis, 2009, Expression patterns of cardiac myofilament proteins—genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy, Circ Heart Fail, 2, 325, 10.1161/CIRCHEARTFAILURE.108.789735 Varnava, 2000, Hypertrophic cardiomyopathy: the interrelation of disarray, fibrosis, and small vessel disease, Heart, 84, 476, 10.1136/heart.84.5.476 Linke, 1994, Passive and active tension in single cardiac myofibrils, Biophys J, 67, 782, 10.1016/S0006-3495(94)80538-7 Cazorla, 2000, Differential expression of cardiac titin isoforms and modulation of cellular stiffness, Circ Res, 86, 59, 10.1161/01.RES.86.1.59 Minajeva, 2001, Unfolding of titin domains explains the viscoelastic behavior of skeletal myofibrils, Biophys J, 80, 1442, 10.1016/S0006-3495(01)76116-4 Warren, 2003, Titin isoform expression in normal and hypertensive myocardium, Cardiovasc Res, 59, 86, 10.1016/S0008-6363(03)00328-6 Borbély, 2005, Cardiomyocyte stiffness in diastolic heart failure, Circulation, 111, 774, 10.1161/01.CIR.0000155257.33485.6D Harris, 2002, Constitutive properties of hypertrophied myocardium: cellular contribution to changes in myocardial stiffness, Am J Physiol, 282, H2173 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 Ashrafian, 2003, Hypertrophic cardiomyopathy: a paradigm for myocardial energy depletion, Trends Genet, 19, 263, 10.1016/S0168-9525(03)00081-7 van Dijk, 2009, Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction, Circulation, 119, 1473, 10.1161/CIRCULATIONAHA.108.838672 Herron, 2006, Activation of myocardial contraction by the N-terminal domains of myosin binding protein-C, Circ Res, 98, 1290, 10.1161/01.RES.0000222059.54917.ef Jacques, 2008, The molecular phenotype of human cardiac myosin associated with hypertrophic obstructive cardiomyopathy, Cardiovasc Res, 79, 481, 10.1093/cvr/cvn094 Marston, 2009, Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency, Circ Res, 105, 219, 10.1161/CIRCRESAHA.109.202440 Mutungi, 1996, The viscous, viscoelastic and elastic characteristics of resting fast and slow mammalian (rat) muscle fibres, J Physiol-London, 496, 827, 10.1113/jphysiol.1996.sp021730 Brenner, 1988, Effect of Ca2+ on cross-bridge turnover kinetics in skinned single rabbit psoas fibers: implications for regulation of muscle contraction, Proc Natl Acad Sci USA, 85, 3265, 10.1073/pnas.85.9.3265 Grossman, 1974, Left ventricular stiffness associated with chronic pressure and volume overloads in Man, Circ Res, 35, 793, 10.1161/01.RES.35.5.793 Kulke, 2001, Interaction between PEVK-titin and actin filaments: origin of a viscous force component in cardiac myofibrils, Circ Res, 89, 874, 10.1161/hh2201.099453 Krüger, 2009, Titin-based mechanical signalling in normal and failing myocardium, J Mol Cell Cardiol, 46, 490, 10.1016/j.yjmcc.2009.01.004 Belus, 2008, The familial hypertrophic cardiomyopathy-associated myosin mutation R403Q accelerates tension generation and relaxation of human cardiac myofibrils, J Physiol, 586, 3639, 10.1113/jphysiol.2008.155952 Marston, 2008, Point/Counterpoint. Troponin phosphorylation and myofilament Ca2+-sensitivity in heart failure: increased or decreased?, J Mol Cell Cardiol, 45, 603, 10.1016/j.yjmcc.2008.07.004 Baudenbacher, 2008, Myofilament Ca2+ sensitization causes susceptibility to cardiac arrhythmia in mice, J Clin Invest, 118, 3893 Palmer, 1998, Roles of Ca2+ and crossbridge kinetics in determining the maximum rates of Ca2+ activation and relaxation in rat and guinea pig skinned trabeculae, Circ Res, 83, 179, 10.1161/01.RES.83.2.179 de Tombe, 1998, Altered contractile function in heart failure, Cardiovasc Res, 37, 367, 10.1016/S0008-6363(97)00275-7 Morano, 1996, Regulation of human heart contractility by essential myosin light chain isoforms, J Clin Invest, 98, 467, 10.1172/JCI118813 Stelzer, 2006, Ablation of myosin-binding protein-C accelerates force development in mouse myocardium, Biophys J, 90, 4119, 10.1529/biophysj.105.078147 Fujita, 1997, Characterization of mutant myosins of Dictyostelium discoideum equivalent to human familial hypertrophic cardiomyopathy mutants, J Clin Invest, 99, 1010, 10.1172/JCI119228 Poetter, 1996, 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, 13, 63, 10.1038/ng0596-63