Myocardial contractility characteristics of hypertrophic cardiomyopathy patients with and without sarcomere mutation

Maron BJ (2004) Hypertrophic cardiomyopathy: an important global disease. Am J Med 116:63–65

Article  PubMed  Google Scholar 

Semsarian C, Ingles J, Maron MS, Maron BJ (2015) New perspectives on the prevalence of hypertrophic cardiomyopathy. J Am Coll Cardiol 65:1249–1254

Article  PubMed  Google Scholar 

Ommen SR, Mital S, Burke MA, Day SM, Deswal A, Elliott P, Evanovich LL, Hung J, Joglar JA, Kantor P, Kimmelstiel C, Kittleson M, Link MS, Maron MS, Martinez MW, Miyake CY, Schaff HV, Semsarian C, Sorajja P (2020) 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: a report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. J Am Coll Cardiol 76:e159–e240

Article  PubMed  Google Scholar 

Melacini P, Basso C, Angelini A, Calore C, Bobbo F, Tokajuk B, Bellini N, Smaniotto G, Zucchetto M, Iliceto S, Thiene G, Maron BJ (2010) Clinicopathological profiles of progressive heart failure in hypertrophic cardiomyopathy. Eur Heart J 31:2111–2123

Article  PubMed  PubMed Central  Google Scholar 

Maron MS, Olivotto I, Betocchi S, Casey SA, Lesser JR, Losi MA, Cecchi F, Maron BJ (2003) Effect of left ventricular outflow tract obstruction on clinical outcome in hypertrophic cardiomyopathy. N Engl J Med 348:295–303

Article  PubMed  Google Scholar 

Ommen SR, Maron BJ, Olivotto I, Maron MS, Cecchi F, Betocchi S, Gersh BJ, Ackerman MJ, McCully RB, Dearani JA, Schaff HV, Danielson GK, Tajik AJ, Nishimura RA (2005) Long-term effects of surgical septal myectomy on survival in patients with obstructive hypertrophic cardiomyopathy. J Am Coll Cardiol 46:470–476

Article  PubMed  Google Scholar 

Sorajja P, Ommen SR, Holmes DR Jr, Dearani JA, Rihal CS, Gersh BJ, Lennon RJ, Nishimura RA (2012) Survival after alcohol septal ablation for obstructive hypertrophic cardiomyopathy. Circulation 126:2374–2380

Article  PubMed  Google Scholar 

Olivotto I, Cecchi F, Poggesi C, Yacoub MH (2012) Patterns of disease progression in hypertrophic cardiomyopathy: an individualized approach to clinical staging. Circ Heart Fail 5:535–546

Article  PubMed  Google Scholar 

Marian AJ (2000) Pathogenesis of diverse clinical and pathological phenotypes in hypertrophic cardiomyopathy. Lancet 355:58–60

Article  CAS  PubMed  Google Scholar 

Maron MS, Kalsmith BM, Udelson JE, Li W, DeNofrio D (2010) Survival after cardiac transplantation in patients with hypertrophic cardiomyopathy. Circ Heart Fail 3:574–579

Article  PubMed  Google Scholar 

Ho CY, Day SM, Ashley EA, Michels M, Pereira AC, Jacoby D, Cirino AL, Fox JC, Lakdawala NK, Ware JS, Caleshu CA, Helms AS, Colan SD, Girolami F, Cecchi F, Seidman CE, Sajeev G, Signorovitch J, Green EM, Olivotto I (2018) Genotype and lifetime burden of disease in hypertrophic cardiomyopathy: insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe). Circulation 138:1387–1398

Article  PubMed  PubMed Central  Google Scholar 

Ho CY, Carlsen C, Thune JJ, Havndrup O, Bundgaard H, Farrohi F, Rivero J, Cirino AL, Andersen PS, Christiansen M, Maron BJ, Orav EJ, Køber L (2009) Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy. Circ Cardiovasc Genet 2:314–321

Article  PubMed  PubMed Central  Google Scholar 

Ozawa K, Funabashi N, Takaoka H, Kamata T, Kanaeda A, Saito M, Nomura F, Kobayashi Y (2015) Characteristic myocardial strain identified in hypertrophic cardiomyopathy subjects with preserved left ventricular ejection fraction using a novel multi-layer transthoracic echocardiography technique. Int J Cardiol 184:237–243

Article  PubMed  Google Scholar 

Inciardi RM, Galderisi M, Nistri S, Santoro C, Cicoira M, Rossi A (2018) Echocardiographic advances in hypertrophic cardiomyopathy: Three-dimensional and strain imaging echocardiography. Echocardiography 35:716–726

Article  PubMed  Google Scholar 

Mitchell C, Rahko PS, Blauwet LA, Canaday B, Finstuen JA, Foster MC, Horton K, Ogunyankin KO, Palma RA, Velazquez EJ (2019) Guidelines for performing a comprehensive transthoracic echocardiographic examination in adults: recommendations from the American Society of Echocardiography. J Am Soc Echocardiogr 32:1–64

Article  PubMed  Google Scholar 

Wang B, Wang J, Wang LF, Yang F, Xu L, Li WX, He Y, Zuo L, Yang QL, Shao H, Hu D, Liu LW (2019) Genetic analysis of monoallelic double MYH7 mutations responsible for familial hypertrophic cardiomyopathy. Mol Med Rep 20:5229–5238

CAS  PubMed  PubMed Central  Google Scholar 

Maron BJ, Maron MS, Semsarian C (2012) Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives. J Am Coll Cardiol 60:705–715

Article  PubMed  Google Scholar 

Rowin EJ, Maron BJ, Carrick RT, Patel PP, Koethe B, Wells S, Maron MS (2020) Outcomes in patients with hypertrophic cardiomyopathy and left ventricular systolic dysfunction. J Am Coll Cardiol 75:3033–3043

Article  PubMed  Google Scholar 

Ho CY, Sweitzer NK, McDonough B, Maron BJ, Casey SA, Seidman JG, Seidman CE, Solomon SD (2002) Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. Circulation 105:2992–2997

Article  PubMed  Google Scholar 

Adhikari AS, Trivedi DV, Sarkar SS, Song D, Kooiker KB, Bernstein D, Spudich JA, Ruppel KM (2019) β-Cardiac myosin hypertrophic cardiomyopathy mutations release sequestered heads and increase enzymatic activity. Nat Commun 10:2685

Article  PubMed  PubMed Central  Google Scholar 

Adhikari AS, Kooiker KB, Sarkar SS, Liu C, Bernstein D, Spudich JA, Ruppel KM (2016) Early-onset hypertrophic cardiomyopathy mutations significantly increase the velocity, force, and actin-activated ATPase activity of human β-cardiac myosin. Cell Rep 17:2857–2864

Article  CAS  PubMed  PubMed Central  Google Scholar 

Spudich JA, Aksel T, Bartholomew SR, Nag S, Kawana M, Yu EC, Sarkar SS, Sung J, Sommese RF, Sutton S, Cho C, Adhikari AS, Taylor R, Liu C, Trivedi D, Ruppel KM (2016) Effects of hypertrophic and dilated cardiomyopathy mutations on power output by human β-cardiac myosin. J Exp Biol 219:161–167

Article  PubMed  PubMed Central  Google Scholar 

Belus A, Piroddi N, Scellini B, Tesi C, D’Amati G, Girolami F, Yacoub M, Cecchi F, Olivotto I, Poggesi C (2008) The familial hypertrophic cardiomyopathy-associated myosin mutation R403Q accelerates tension generation and relaxation of human cardiac myofibrils. J Physiol 586:3639–3644

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ferrantini C, Belus A, Piroddi N, Scellini B, Tesi C, Poggesi C (2009) Mechanical and energetic consequences of HCM-causing mutations. J Cardiovasc Transl Res 2:441–451

Article  PubMed  Google Scholar 

Witjas-Paalberends ER, Güçlü A, Germans T, Knaapen P, Harms HJ, Vermeer AM, Christiaans I, Wilde AA, Dos Remedios C, Lammertsma AA, van Rossum AC, Stienen GJ, van Slegtenhorst M, Schinkel AF, Michels M, Ho CY, Poggesi C, van der Velden J (2014) Gene-specific increase in the energetic cost of contraction in hypertrophic cardiomyopathy caused by thick filament mutations. Cardiovasc Res 103:248–257

Article  CAS  PubMed  Google Scholar 

Timmer SA, Germans T, Brouwer WP, Lubberink M, van der Velden J, Wilde AA, Christiaans I, Lammertsma AA, Knaapen P, van Rossum AC (2011) Carriers of the hypertrophic cardiomyopathy MYBPC3 mutation are characterized by reduced myocardial efficiency in the absence of hypertrophy and microvascular dysfunction. Eur J Heart Fail 13:1283–1289

Article  CAS  PubMed  Google Scholar 

Biagini E, Coccolo F, Ferlito M, Perugini E, Rocchi G, Bacchi-Reggiani L, Lofiego C, Boriani G, Prandstraller D, Picchio FM, Branzi A, Rapezzi C (2005) Dilated-hypokinetic evolution of hypertrophic cardiomyopathy: prevalence, incidence, risk factors, and prognostic implications in pediatric and adult patients. J Am Coll Cardiol 46:1543–1550

Article  PubMed  Google Scholar 

Kubo T, Kitaoka H, Okawa M, Matsumura Y, Hitomi N, Yamasaki N, Furuno T, Takata J, Nishinaga M, Kimura A, Doi YL (2005) Lifelong left ventricular remodeling of hypertrophic cardiomyopathy caused by a founder frameshift deletion mutation in the cardiac Myosin-binding protein C gene among Japanese. J Am Coll Cardiol 46:1737–1743

Article  CAS  PubMed  Google Scholar 

Olivotto I, Maron BJ, Appelbaum E, Harrigan CJ, Salton C, Gibson CM, Udelson JE, O’Donnell C, Lesser JR, Manning WJ, Maron MS (2010) Spectrum and clinical significance of systolic function and myocardial fibrosis assessed by cardiovascular magnetic resonance in hypertrophic cardiomyopathy. Am J Cardiol 106:261–267

Article  PubMed  Google Scholar 

Green EM, Wakimoto H, Anderson RL, Evanchik MJ, Gorham JM, Harrison BC, Henze M, Kawas R, Oslob JD, Rodriguez HM, Song Y, Wan W, Leinwand LA, Spudich JA, McDowell RS, Seidman JG, Seidman CE (2016) A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice. Science 351:617–621

Article 

Comments (0)

No login
gif