Increased left ventricular torsion in hypertrophic cardiomyopathy mutation carriers with normal wall thickness

Journal of Cardiovascular Magnetic Resonance - Tập 13 - Trang 1-8 - 2011
Iris K Rüssel1, Wessel P Brouwer2, Tjeerd Germans3,2, Paul Knaapen3, J Tim Marcus4, Jolanda van der Velden5, Marco JW Götte6, Albert C van Rossum3
1Department of Clinical Physics, Hagaziekenhuis, The Hague, The Netherlands
2Interuniversity Cardiology Institute of the Netherlands (ICIN), Utrecht, The Netherlands
3Department of Cardiology, VU University Medical Center, Amsterdam, The Netherlands
4Department of Physics and Medical Technology, VU University Medical Center, Amsterdam, the Netherlands
5Department of Physiology, VU University Medical Center, Amsterdam, The Netherlands
6Department of cardiology, Hagaziekenhuis, The Hague, The Netherlands

Tóm tắt

Increased left ventricular (LV) torsion has been observed in patients with manifest familial hypertrophic cardiomyopathy (HCM), and is thought to be caused by subendocardial dysfunction. We hypothesize that increased LV torsion is already present in healthy mutation carriers with normal wall thickness. Seventeen carriers with an LV wall thickness <10 mm, and seventeen age and gender matched controls had cardiovascular magnetic resonance (CMR) cine imaging and tissue tagging. LV volumes and mass were calculated from the cine images. LV torsion, torsion rate, endocardial circumferential strain and torsion-to-endocardial-circumferential-shortening (TECS) ratio, which reflects the transmural distribution in contractile function, were determined using tissue tagging. LV volumes, mass and circumferential strain were comparable between groups, whereas LV ejection fraction, torsion and TECS-ratio were increased in carriers compared to controls (63 ± 3% vs. 60 ± 3%, p = 0.04, 10.1 ± 2.5° vs. 7.7 ± 1.2°, p = 0.001, and 0.52 ± 0.14°/% vs. 0.42 ± 0.10°/%, p = 0.02, respectively). Carriers with normal wall thickness display increased LV torsion and TECS-ratio with respect to controls, which might be due to subendocardial myocardial dysfunction. As similar abnormalities are observed in patients with manifest HCM, the changes in healthy carriers may be target for clinical intervention to delay or prevent the onset of hypertrophy.

Tài liệu tham khảo

Greaves SC, Roche AH, Neutze JM, Whitlock RM, Veale AM: Inheritance of hypertrophic cardiomyopathy: a cross sectional and M mode echocardiographic study of 50 families. Br Heart J. 1987, 58: 259-266. 10.1136/hrt.58.3.259. Maron BJ, Nichols PF, Pickle LW, Wesley YE, Mulvihill JJ: Patterns of inheritance in hypertrophic cardiomyopathy: Assessment by m-mode and two-dimensional echocardiography. The American Journal of Cardiology. 1984, 53: 1087-1094. 10.1016/0002-9149(84)90643-X. Dong SJ, MacGregor JH, Crawley AP, McVeigh E, Belenkie I, Smith ER, Tyberg JV, Beyar R: Left ventricular wall thickness and regional systolic function in patients with hypertrophic cardiomyopathy. A three-dimensional tagged magnetic resonance imaging study. Circulation. 1994, 90: 1200-9. Ennis DB, Epstein FH, Kellman P, Fananapazir L, McVeigh ER, Arai AE: Assessment of regional systolic and diastolic dysfunction in familial hypertrophic cardiomyopathy using MR tagging. Magn Reson Med. 2003, 50: 638-42. 10.1002/mrm.10543. Nagueh SF, McFalls J, Meyer D, Hill R, Zoghbi WA, Tam JW, Quiñones MA, Roberts R, Marian AJ: Tissue Doppler imaging predicts the development of hypertrophic cardiomyopathy in subjects with subclinical disease. Circulation. 2003, 108: 395-8. 10.1161/01.CIR.0000084500.72232.8D. Streeter DD, Spotnitz HM, Patel DP, Ross J, Sonnenblick EH: Fiber orientation in canine left ventricle during diastole and systole. Circ Res. 1969, 24: 339-347. Sengupta PP, Krishnamoorthy VK, Korinek J, Narula J, Vannan MA, Lester SJ, Tajik JA, Seward JB, Khandheria BK, Belohlavek M: Left ventricular form and function revisited: applied translational science to cardiovascular ultrasound imaging. J Am Soc Echocardiogr. 2007, 20: 539-51. 10.1016/j.echo.2006.10.013. Arts T, Reneman RS, Veenstra PC: A Model of the Mechanics of the Left Ventricle. Ann Biomed Eng. 1979, 7: 299-318. 10.1007/BF02364118. Arts T, Meerbaum S, Reneman RS, Corday E: Torsion of the left ventricle during the ejection phase in the intact dog. Cardiovasc Res. 1984, 18: 183-193. 10.1093/cvr/18.3.183. Aelen FWL, Arts T, Sanders DGM, Thelissen GR, Muijtjens AM, Prinzen FW, Reneman RS: Relation between torsion and cross-sectional area change in the human left ventricles. J Biomechanics. 1997, 30: 207-212. 10.1016/S0021-9290(96)00147-9. Delhaas T, Kotte J, Van der Toorn A, Snoep G, Prinzen FW, Arts T: Increase in Left Ventricular Torsion-to-Shortening Ratio in Children With Valvular Aortic Stenosis. Magn Res Med. 2004, 51: 135-139. 10.1002/mrm.10679. Lumens J, Delhaas T, Arts T, Cowan BR, Young AA: Impaired subendocardial contractile myofiber function in asymptomatic aged humans, as detected using MRI. Am J Physiol: Heart Circ Physiol. 2006, 291: 1573-1579. 10.1152/ajpheart.00074.2006. Nagel E, Stuber M, Burkhard B, Fischer SE, Scheidegger MB, Boesiger P, Hess OM: Cardiac rotation and relaxation in patients with aortic valve stenosis. Eur Heart J. 2000, 21: 582-589. 10.1053/euhj.1999.1736. Nagel E, Stuber M, Lakatos M, Scheidegger MB, Boesiger P, Hess OM: Cardiac rotation and relaxation after anterolateral myocardial infarction. Coron Artery Dis. 2000, 11: 261-267. 10.1097/00019501-200005000-00009. Paetsch I, Föll D, Kaluza A, Luechinger R, Stuber M, Bornstedt A, Wahl A, Fleck E, Nagel E: Magnetic resonance stress tagging in ischemic heart disease. Am J Physiol: Heart Circ Physiol. 2005, 288: H2708-2714. 10.1152/ajpheart.01017.2003. Sandstede JJW, Johnson T, Harre K, Beer M, Hofmann S, Pabst T, Kenn W, Voelker W, Neubauer S, Hahn D: Cardiac systolic rotation and contraction before and after valve replacement for aortic stenosis: A myocardial tagging study using MR imaging. Am J Roentgenol. 2002, 178: 953-958. Van der Toorn A, Barenbrug P, Snoep G, Van Der Veen FH, Delhaas T, Prinzen FW, Maessen J, Arts T: Transmural gradients of cardiac myofiber shortening in aortic valve stenosis patients using MRI tagging. Am J Physiol: Heart Circ Physiol. 2002, 283: 1609-1615. Rüssel IK, Götte MJW, Bronzwaer JG, Knaapen P, Paulus WJ, van Rossum AC: Left Ventricular Torsion: An Expanding Role in the Analysis of Myocardial Dysfunction. J Am Coll Cardiol Img. 2009, 2: 648-655. Kang SJ, Lim HS, Choi BJ, Choi SY, Hwang GS, Yoon MH, Tahk SJ, Shin JH: Longitudinal strain and torsion assessed by two-dimensional speckle tracking correlate with the serum level of tissue inhibitor of matrix metalloproteinase-1, a marker of myocardial fibrosis, in patients with hypertension. J Am Soc Echocardiogr. 2008, 21: 907-11. 10.1016/j.echo.2008.01.015. Young AA, Kramer CM, Ferrari VA, Axel L, Reickek N: Three-Dimensional Left Ventricular Deformation in Hypertrophic Cardiomyopathy. Circulation. 1994, 90: 854-867. Factor SM, Butany J, Sole MJ, Wigle ED, Williams WC, Rojkind M: Pathologic fibrosis and matrix connective tissue in the subaortic myocardium of patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 1991, 17: 1343-51. 10.1016/S0735-1097(10)80145-7. Maron BJ, Sato N, Roberts WC, Edwards JE, Chandra RS: Quantitative analysis of cardiac muscle cell disorganization in the ventricular septum. Comparison of fetuses and infants with and without congenital heart disease and patients with hypertrophic cardiomyopathy. Circulation. 1979, 60: 685-96. Schwartzkopff B, Mundhenke M, Strauer BE: Alterations of the architecture of subendocardial arterioles in patients with hypertrophic cardiomyopathy and impaired coronary vasodilator reserve: a possible cause for myocardial ischemia. J Am Coll Cardiol. 1998, 31: 1089-96. 10.1016/S0735-1097(98)00036-9. Shirani J, Pick R, Roberts WC, Maron BJ: Morphology and significance of the left ventricular collagen network in young patients with hypertrophic cardiomyopathy and sudden cardiac death. J Am Coll Cardiol. 2000, 35: 36-44. 10.1016/S0735-1097(99)00492-1. Tanaka M, Fujiwara H, Onodera T, Wu DJ, Matsuda M, Hamashima Y, Kawai C: Quantitative analysis of narrowings of intramyocardial small arteries in normal hearts, hypertensive hearts, and hearts with hypertrophic cardiomyopathy. Circulation. 1987, 75: 1130-9. Alders M, Jongbloed R, Deelen W, van den Wijngaard A, Doevendans P, Ten Cate F, Regitz-Zagrosek V, Vosberg HP, van Langen I, Wilde A, Dooijes D, Mannens M: The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. Eur Heart J. 2003, 24: 1848-53. 10.1016/S0195-668X(03)00466-4. Jongbloed RJ, Marcelis CL, Doevendans PA, Schmeitz-Mulkens JM, Van Dockum WG, Geraedts JP, Smeets HJ: Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathy. J Am Coll Cardiol. 2003, 41: 981-6. 10.1016/S0735-1097(02)03005-X. Germans T, Wilde AAM, Dijkmans PA, Chai W, Kamp O, Pinto YM, van Rossum AC: Structural Abnormalities of the Inferoseptal Left Ventricular Wall Detected by Cardiac Magnetic Resonance Imaging in Carriers of Hypertrophic Cardiomyopathy Mutations. Journal of the American College of Cardiology. 2006, 48: 2518-2523. 10.1016/j.jacc.2006.08.036. Germans T, Gotte MJ, Nijveldt R, Spreeuwenberg MD, Beek AM, Bronzwaer JG, Visser CA, Paulus WJ, van Rossum AC: Effects of aging on left atrioventricular coupling and left ventricular filling assessed using cardiac magnetic resonance imaging in healthy subjects. Am J Cardiol. 2007, 100: 122-7. 10.1016/j.amjcard.2007.02.060. Paelinck BP, Lamb HJ, Bax JJ, van der Wall EE, de Roos A: MR flow mapping of dobutamine-induced changes in diastolic heart function. J Magn Reson Imaging. 2004, 19: 176-81. 10.1002/jmri.10448. Zwanenburg JJM, Kuijer JPA, Marcus JT, Heethaar RM: Steady state free precession with myocardial tagging: CSPAMM in a single breathhold. Magn Res Med. 2003, 49: 722-730. 10.1002/mrm.10422. Rüssel IK, Götte MJW, Kuijer JPA, Marcus JT: Regional assessment of left ventricular torsion by CMR tagging. Journal of Cardiovascular Magnetic Resonance. 2008, 10: 26- Tecelao SR, Zwanenburg JJM, Kuijer JPA, Marcus JT: Extended harmonic phase tracking of myocardial motion: improved coverage of myocardium and its effects on strain results. J Magn Res Im. 2006, 23: 682-690. 10.1002/jmri.20571. Osman NF, Kerwin WS, McVeigh ER, Prince JL: Cardiac motion tracking using CINE harmonic phase (HARP) magnetic resonance imaging. Magn Res Med. 1999, 42: 1048-1060. 10.1002/(SICI)1522-2594(199912)42:6<1048::AID-MRM9>3.0.CO;2-M. Notomi Y, Martin-Miklovic MG, Oryszak SJ, Shiota T, Deserranno D, Popovic ZB, Garcia MJ, Greenberg NL, Thomas JD: Enhanced Ventricular Untwisting During Exercise; A Mechanistic Manifestation of Elastic Recoil Described by Doppler Tissue Imaging. Circulation. 2006, 113: 2524-2533. 10.1161/CIRCULATIONAHA.105.596502. Zwanenburg JJM, Gotte MJW, Kuijer JPA, Heethaar RM, van Rossum AC, Marcus JT: Timing of cardiac contraction in humans mapped by high-temporal-resolution MRI tagging: Early onset and late peak of shortening in the lateral wall. Am J Physiol: Heart Circ Physiol. 2004, 286: H1872-H1880. 10.1152/ajpheart.01047.2003. Chung J, Abraszewski P, Yu X, Liu W, Krainik AJ, Ashford M, Caruthers SD, McGill JB, Wickline SA: Paradoxical increase in ventricular torsion and systolic torsion rate in type 1 diabetic patients under tight glycemic control. J Am Coll Cardiol. 2006, 47: 384-390. 10.1016/j.jacc.2005.08.061. Maron BJ: Hypertrophic cardiomyopathy: a systematic review. JAMA. 2002, 287: 1308-1320. 10.1001/jama.287.10.1308. Buchalter MB, Rademakers FE, Weiss JL, Rogers WJ, Weisfeldt ML, Shapiro EP: Rotational deformation of the canine left ventricle measured by magnetic resonance tagging: effects of catecholamines, ischeamia, and pacing. Cardiovasc Res. 1994, 28: 629-635. 10.1093/cvr/28.5.629. Rademakers FE, Buchalter MB, Rogers WJ, Zerhouni EA, Weisfeldt ML, Weiss JL, Shapiro EP: Dissociation between left ventricular untwisting and filling - Accentuation by cathecholamines. Circulation. 1992, 85: 1572-1581. Ahmad F, Seidman JG, Seidman CE: The genetic basis for cardiac remodeling. Annu Rev Genomics Hum Genet. 2005, 6: 185-216. 10.1146/annurev.genom.6.080604.162132.