FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Previous Volume 332:1058-1065 April 20, 1995 Number 16 Next

Mutations in the Genes for Cardiac Troponin T and -Tropomyosin in Hypertrophic Cardiomyopathy

	Full Text PDF Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

ABSTRACT

Background Familial hypertrophic cardiomyopathy can be caused by mutations in the genes for cardiac myosin heavy chain, -tropomyosin, or cardiac troponin T. It is not known how often the disease is caused by mutations in the tropomyosin and troponin genes, and the associated clinical phenotypes have not been carefully studied.

Methods Linkage between polymorphisms of the -tropomyosin gene or the cardiac troponin T gene and hypertrophic cardiomyopathy was assessed in 27 families. In addition, 100 probands were screened for mutations in the -tropomyosin gene, and 26 were screened for mutations in the cardiac troponin T gene. Life expectancy, the incidence of sudden death, and the extent of left ventricular hypertrophy were compared in patients with different mutations.

Results Genetic analyses identified only one -tropomyosin mutation, identical to one previously described. Five novel mutations in cardiac troponin were identified, as well as a further example of a previously described mutation. The clinical phenotype of four troponin T mutations in seven unrelated families was similar and was characterized by a poor prognosis (life expectancy, approximately 35 years) and a high incidence of sudden death. The mean (±SD) maximal thickness of the left ventricular wall in subjects with cardiac troponin T mutations (16.7±5.5 mm) was significantly less than that in subjects with cardiac myosin heavy-chain mutations (23.7±7.7 mm, P<0.001).

Conclusions Mutations in -tropomyosin are a rare cause of familial hypertrophic cardiomyopathy, accounting for approximately 3 percent of cases. Mutations in cardiac troponin T account for approximately 15 percent of cases of familial hypertrophic cardiomyopathy in this referral-center population. These mutations are characterized by relatively mild and sometimes subclinical hypertrophy but a high incidence of sudden death. Genetic testing may therefore be especially important in this group.

Source Information

From the Howard Hughes Medical Institute, Boston (H.W., L.T., H.J.S., R.A., J.G.S., C.E.S.); the Cardiovascular Division, Brigham and Women's Hospital, Boston (H.W., R.A., C.E.S.); the Department of Cardiological Sciences, St. George's Hospital Medical School, London (H.W., W.J.M., A.O.); the Department of Genetics, Harvard Medical School, Boston (L.T., H.J.S., J.G.S.); Franz Volhard Klinik and Max Delbrück Centrum, Berlin, Germany (L.T.); the Division of Cardiology, Ospedali Galliera, Genoa, Italy (P.S.); the Department of Internal Medicine, Kyoto University, Kyoto, Japan (A.M.); and the Center for Anesthesiology Research, Cleveland Clinic Foundation, Cleveland (C.S.M.).

Address reprint requests to Dr. Watkins at the Department of Genetics, Harvard Medical School, 200 Longwood Ave., Boston, MA 02115.

Full Text of this Article

This article has been cited by other articles:

• Elliott, P, Spirito, P (2008). Prevention of hypertrophic cardiomyopathy-related deaths: theory and practice. Heart 94: 1269-1275 [Abstract] [Full Text]  
• Watkins, H, Ashrafian, H, McKenna, W J (2008). The genetics of hypertrophic cardiomyopathy: Teare redux. Heart 94: 1264-1268 [Full Text]  
• Gaze, D. C, Collinson, P. O (2008). Multiple molecular forms of circulating cardiac troponin: analytical and clinical significance. Ann Clin Biochem 45: 349-355 [Abstract] [Full Text]  
• Xun, Z., Sowell, R. A., Kaufman, T. C., Clemmer, D. E. (2008). Quantitative Proteomics of a Presymptomatic A53T {alpha}-Synuclein Drosophila Model of Parkinson Disease. Mol. Cell. Proteomics 7: 1191-1203 [Abstract] [Full Text]  
• Lombardi, R., Bell, A., Senthil, V., Sidhu, J., Noseda, M., Roberts, R., Marian, A. J. (2008). Differential interactions of thin filament proteins in two cardiac troponin T mouse models of hypertrophic and dilated cardiomyopathies. Cardiovasc Res 79: 109-117 [Abstract] [Full Text]  
• Morita, H., Rehm, H. L., Menesses, A., McDonough, B., Roberts, A. E., Kucherlapati, R., Towbin, J. A., Seidman, J.G., Seidman, C. E. (2008). Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults. NEJM 358: 1899-1908 [Abstract] [Full Text]  
• Morimoto, S. (2008). Sarcomeric proteins and inherited cardiomyopathies. Cardiovasc Res 77: 659-666 [Abstract] [Full Text]  
• Gunning, P., O'neill, G., Hardeman, E. (2008). Tropomyosin-Based Regulation of the Actin Cytoskeleton in Time and Space. Physiol. Rev. 88: 1-35 [Abstract] [Full Text]  
• Robinson, P., Griffiths, P. J., Watkins, H., Redwood, C. S. (2007). Dilated and Hypertrophic Cardiomyopathy Mutations in Troponin and {alpha}-Tropomyosin Have Opposing Effects on the Calcium Affinity of Cardiac Thin Filaments. Circ. Res. 101: 1266-1273 [Abstract] [Full Text]  
• Ashrafian, H., Watkins, H. (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: 1251-1264 [Abstract] [Full Text]  
• Rajan, S., Williams, S. S., Jagatheesan, G., Ahmed, R. P. H., Fuller-Bicer, G., Schwartz, A., Aronow, B. J., Wieczorek, D. F. (2006). Microarray analysis of gene expression during early stages of mild and severe cardiac hypertrophy. Physiol. Genomics 27: 309-317 [Abstract] [Full Text]  
• Dumka, D., Talent, J., Akopova, I., Guzman, G., Szczesna-Cordary, D., Borejdo, J. (2006). E22K mutation of RLC that causes familial hypertrophic cardiomyopathy in heterozygous mouse myocardium: effect on cross-bridge kinetics. Am. J. Physiol. Heart Circ. Physiol. 291: H2098-H2106 [Abstract] [Full Text]  
• Richard, P., Villard, E., Charron, P., Isnard, R. (2006). The Genetic Bases of Cardiomyopathies. J Am Coll Cardiol 48: A79-A89 [Abstract] [Full Text]  
• Developed in Collaboration With the European Heart, , Zipes, D. P., Camm, A. J., Borggrefe, M., Buxton, A. E., Chaitman, B., Fromer, M., Gregoratos, G., Klein, G., Moss, A. J., Myerburg, R. J., Priori, S. G., Quinones, M. A., Roden, D. M., Silka, M. J., Tracy, C., Smith, S. C. Jr, Jacobs, A. K., Adams, C. D., Antman, E. M., Anderson, J. L., Hunt, S. A., Halperin, J. L., Nishimura, R., Ornato, J. P., Page, R. L., Riegel, B., Priori, S. G., Blanc, J.-J., Budaj, A., Camm, A. J., Dean, V., Deckers, J. W., Despres, C., Dickstein, K., Lekakis, J., McGregor, K., Metra, M., Morais, J., Osterspey, A., Tamargo, J. L., Zamorano, J. L. (2006). ACC/AHA/ESC 2006 Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: A Report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (Writing Committee to Develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death). J Am Coll Cardiol 48: e247-e346 [Full Text]  
• Writing Committee Members, , Zipes, D. P., Camm, A. J., Borggrefe, M., Buxton, A. E., Chaitman, B., Fromer, M., Gregoratos, G., Klein, G., Moss, A. J., Myerburg, R. J., Priori, S. G., Quinones, M. A., Roden, D. M., Silka, M. J., Tracy, C., ESC Committee for Practice Guidelines, , Priori, S. G., Blanc, J.-J., Budaj, A., Camm, A. J., Dean, V., Deckers, J. W., Despres, C., Dickstein, K., Lekakis, J., McGregor, K., Metra, M., Morais, J., Osterspey, A., Tamargo, J. L., Zamorano, J. L., ACC/AHA Task Force Members, , Smith, S. C. Jr, Jacobs, A. K., Adams, C. D., Antman, E. M., Anderson, J. L., Hunt, S. A., Halperin, J. L., Nishimura, R., Ornato, J. P., Page, R. L., Riegel, B. (2006). ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: A report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (Writing Committee to Develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death) Developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society. Europace 8: 746-837 [Full Text]  
• Izu, L. T., Means, S. A., Shadid, J. N., Chen-Izu, Y., Balke, C. W. (2006). Interplay of Ryanodine Receptor Distribution and Calcium Dynamics. Biophys. J 91: 95-112 [Abstract] [Full Text]  
• Tschirgi, M. L., Rajapakse, I., Chandra, M. (2006). Functional consequence of mutation in rat cardiac troponin T is affected differently by myosin heavy chain isoforms. J. Physiol. 574: 263-273 [Abstract] [Full Text]  
• Elliott, P M, Gimeno, J R, Thaman, R, Shah, J, Ward, D, Dickie, S, Tome Esteban, M T, McKenna, W J (2006). Historical trends in reported survival rates in patients with hypertrophic cardiomyopathy. Heart 92: 785-791 [Abstract] [Full Text]  
• Marian, A. J., Senthil, V., Chen, S. N., Lombardi, R. (2006). Antifibrotic Effects of Antioxidant N-Acetylcysteine in a Mouse Model of Human Hypertrophic Cardiomyopathy Mutation. J Am Coll Cardiol 47: 827-834 [Abstract] [Full Text]  
• Ertz-Berger, B. R., He, H., Dowell, C., Factor, S. M., Haim, T. E., Nunez, S., Schwartz, S. D., Ingwall, J. S., Tardiff, J. C. (2005). Changes in the chemical and dynamic properties of cardiac troponin T cause discrete cardiomyopathies in transgenic mice. Proc. Natl. Acad. Sci. USA 102: 18219-18224 [Abstract] [Full Text]  
• Wolf, C. M., Moskowitz, I. P. G., Arno, S., Branco, D. M., Semsarian, C., Bernstein, S. A., Peterson, M., Maida, M., Morley, G. E., Fishman, G., Berul, C. I., Seidman, C. E., Seidman, J. G. (2005). Somatic events modify hypertrophic cardiomyopathy pathology and link hypertrophy to arrhythmia. Proc. Natl. Acad. Sci. USA 102: 18123-18128 [Abstract] [Full Text]  
• Hernandez, O. M., Szczesna-Cordary, D., Knollmann, B. C., Miller, T., Bell, M., Zhao, J., Sirenko, S. G., Diaz, Z., Guzman, G., Xu, Y., Wang, Y., Kerrick, W. G. L., Potter, J. D. (2005). F110I and R278C Troponin T Mutations That Cause Familial Hypertrophic Cardiomyopathy Affect Muscle Contraction in Transgenic Mice and Reconstituted Human Cardiac Fibers. J. Biol. Chem. 280: 37183-37194 [Abstract] [Full Text]  
• Chandra, M., Tschirgi, M. L., Tardiff, J. C. (2005). Increase in tension-dependent ATP consumption induced by cardiac troponin T mutation. Am. J. Physiol. Heart Circ. Physiol. 289: H2112-H2119 [Abstract] [Full Text]  
• Sipola, P., Lauerma, K., Jaaskelainen, P., Laakso, M., Peuhkurinen, K., Manninen, H., Aronen, H. J., Kuusisto, J. (2005). Cine MR Imaging of Myocardial Contractile Impairment in Patients with Hypertrophic Cardiomyopathy Attributable to Asp175Asn Mutation in the {alpha}-Tropomyosin Gene. Radiology 236: 815-824 [Abstract] [Full Text]  
• Kaab, S., Schulze-Bahr, E. (2005). Susceptibility genes and modifiers for cardiac arrhythmias. Cardiovasc Res 67: 397-413 [Abstract] [Full Text]  
• Rickers, C., Wilke, N. M., Jerosch-Herold, M., Casey, S. A., Panse, P., Panse, N., Weil, J., Zenovich, A. G., Maron, B. J. (2005). Utility of Cardiac Magnetic Resonance Imaging in the Diagnosis of Hypertrophic Cardiomyopathy. Circulation 112: 855-861 [Abstract] [Full Text]  
• Watkins, H., McKenna, W. J. (2005). The Prognostic Impact of Septal Myectomy in Obstructive Hypertrophic Cardiomyopathy. J Am Coll Cardiol 46: 477-479 [Full Text]  
• Miliou, A, Anastasakis, A, D'Cruz, L G, Theopistou, A, Rigopoulos, A, Rizos, I, Stamatelopoulos, S, Toutouzas, P, Stefanadis, C (2005). Low prevalence of cardiac troponin T mutations in a Greek hypertrophic cardiomyopathy cohort. Heart 91: 966-967 [Full Text]  
• Mogensen, J., Murphy, R. T., Kubo, T., Bahl, A., Moon, J. C., Klausen, I. C., Elliott, P. M., McKenna, W. J. (2004). Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. J Am Coll Cardiol 44: 2315-2325 [Abstract] [Full Text]  
• Maron, B. J., Seidman, J.G., Seidman, C. E. (2004). Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy. J Am Coll Cardiol 44: 2125-2132 [Abstract] [Full Text]  
• Lutucuta, S., Tsybouleva, N., Ishiyama, M., DeFreitas, G., Wei, L., Carabello, B., Marian, A.J. (2004). Induction and reversal of cardiac phenotype of human hypertrophic cardiomyopathy mutation cardiac troponin T-Q92 in switch on-switch off bigenic mice. J Am Coll Cardiol 44: 2221-2230 [Abstract] [Full Text]  
• Towbin, J. A., Solaro, R. J. (2004). Genetics of dilated cardiomyopathy: More genes that kill. J Am Coll Cardiol 44: 2041-2043 [Full Text]  
• Wernicke, D., Thiel, C., Duja-Isac, C. M., Essin, K. V., Spindler, M., Nunez, D. J. R., Plehm, R., Wessel, N., Hammes, A., Edwards, R.-J., Lippoldt, A., Zacharias, U., Stromer, H., Neubauer, S., Davies, M. J., Morano, I., Thierfelder, L. (2004). {alpha}-Tropomyosin mutations Asp175Asn and Glu180Gly affect cardiac function in transgenic rats in different ways. Am. J. Physiol. Regul. Integr. Comp. Physiol. 287: R685-R695 [Abstract] [Full Text]  
• Shankarkumar, U., Pitchappan, R., Pethaperumal, S. (2004). Human Leukocyte Antigens in Hypertrophic Cardiomyopathy Patients in South India. Asian Cardiovasc. Thorac. Ann. 12: 107-110 [Abstract] [Full Text]  
• Frenneaux, M. P (2004). Assessing the risk of sudden cardiac death in a patient with hypertrophic cardiomyopathy. Heart 90: 570-575 [Full Text]  
• Harada, K., Potter, J. D. (2004). Familial Hypertrophic Cardiomyopathy Mutations from Different Functional Regions of Troponin T Result in Different Effects on the pH and Ca2+ Sensitivity of Cardiac Muscle Contraction. J. Biol. Chem. 279: 14488-14495 [Abstract] [Full Text]  
• Arking, D. E., Chugh, S. S., Chakravarti, A., Spooner, P. M. (2004). Genomics in Sudden Cardiac Death. Circ. Res. 94: 712-723 [Abstract] [Full Text]  
• Mas, J.-A., Garcia-Zaragoza, E., Cervera, M. (2004). Two Functionally Identical Modular Enhancers in Drosophila Troponin T Gene Establish the Correct Protein Levels in Different Muscle Types. Mol. Biol. Cell 15: 1931-1945 [Abstract] [Full Text]  
• Tsybouleva, N., Zhang, L., Chen, S., Patel, R., Lutucuta, S., Nemoto, S., DeFreitas, G., Entman, M., Carabello, B. A., Roberts, R., Marian, A.J. (2004). Aldosterone, Through Novel Signaling Proteins, Is a Fundamental Molecular Bridge Between the Genetic Defect and the Cardiac Phenotype of Hypertrophic Cardiomyopathy. Circulation 109: 1284-1291 [Abstract] [Full Text]  
• Szczesna-Cordary, D., Guzman, G., Ng, S.-S., Zhao, J. (2004). Familial Hypertrophic Cardiomyopathy-linked Alterations in Ca2+ Binding of Human Cardiac Myosin Regulatory Light Chain Affect Cardiac Muscle Contraction. J. Biol. Chem. 279: 3535-3542 [Abstract] [Full Text]  
• Gilbert-Barness, E. (2004). Metabolic Cardiomyopathy and Conduction System Defects in Children. Annals of Clinical & Laboratory Science 34: 15-34 [Abstract] [Full Text]  
• Maron, B. J., McKenna, W. J., Danielson, G. K., Kappenberger, L. J., Kuhn, H. J., Seidman, C. E., Shah, P. M., Spencer, W. H. III, Spirito, P., Ten Cate, F. J., Wigle, E. D., Vogel, R. A., Abrams, J., Bates, E. R., Brodie, B. R., Danias, P. G., Gregoratos, G., Hlatky, M. A., Hochman, J. S., Kaul, S., Lichtenberg, R. C., Lindner, J. R., O'rourke, R. A., Pohost, G. M., Schofield, R. S., Tracy, C. M., Winters, W. L. Jr, Klein, W. W., Priori, S. G., Alonso-Garcia, A., Blomstrom-Lundqvist, C., De Backer, G., Deckers, J., Flather, M., Hradec, J., Oto, A., Parkhomenko, A., Silber, S., Torbicki, A. (2003). 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 Practice Guidelines. J Am Coll Cardiol 42: 1687-1713 [Full Text]  
• Writing Committee Members, , Maron, B. J., McKenna, W. J., Danielson, G. K., Kappenberger, L. J., Kuhn, H. J., Seidman, C. E., Shah, P. M., Spencer, W. H. III, Spirito, P., Ten Cate, F. J., Wigle, E. D., ACCF Task Force on Clinical Expert Consensus Docum, , Vogel, R. A., Abrams, J., Bates, E. R., Brodie, B. R., Danias, P. G., Gregoratos, G., Hlatky, M. A., Hochman, J. S., Kaul, S., Lichtenberg, R. C., Lindner, J. R., O'Rourke, R. A., Pohost, G. M., Schofield, R. S., Tracy, C. M., Winters, W. L. Jr, ESC Committee for Practice Guidelines Members, , Klein, W. W., Priori, S. G., Alonso-Garcia, A., Blomstrom-Lundqvist, C., De Backer, G., Deckers, J., Flather, M., Hradec, J., Oto, A., Parkhomenko, A., Silber, S., Torbicki, A. (2003). 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 Practice Guidelines. Eur Heart J 24: 1965-1991 [Full Text]  
• Wang, Q., Moncman, C. L., Winkelmann, D. A. (2003). Mutations in the motor domain modulate myosin activity and myofibril organization. J. Cell Sci. 116: 4227-4238 [Abstract] [Full Text]  
• Woo, A, Rakowski, H, Liew, J C, Zhao, M-S, Liew, C-C, Parker, T G, Zeller, M, Wigle, E D, Sole, M J (2003). Mutations of the {beta} myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. Heart 89: 1179-1185 [Abstract] [Full Text]  
• Sumandea, M. P., Pyle, W. G., Kobayashi, T., de Tombe, P. P., Solaro, R. J. (2003). Identification of a Functionally Critical Protein Kinase C Phosphorylation Residue of Cardiac Troponin T. J. Biol. Chem. 278: 35135-35144 [Abstract] [Full Text]  
• Garcia-Castro, M., Reguero, J. R., Batalla, A., Diaz-Molina, B., Gonzalez, P., Alvarez, V., Cortina, A., Cubero, G. I., Coto, E. (2003). Hypertrophic Cardiomyopathy: Low Frequency of Mutations in the {beta}-Myosin Heavy Chain (MYH7) and Cardiac Troponin T (TNNT2) Genes among Spanish Patients. Clin. Chem. 49: 1279-1285 [Abstract] [Full Text]  
• Van Driest, S. L., Ellsworth, E. G., Ommen, S. R., Tajik, A. J., Gersh, B. J., Ackerman, M. J. (2003). Prevalence and Spectrum of Thin Filament Mutations in an Outpatient Referral Population With Hypertrophic Cardiomyopathy * Note Added in Proof. Circulation 108: 445-451 [Abstract] [Full Text]  
• Marian, A.J., Roberts, R. (2003). To Screen or Not Is Not the Question-- It Is When and How to Screen. Circulation 107: 2171-2174 [Full Text]  
• Kofflard, M. J. M., Ten Cate, F. J., van der Lee, C., van Domburg, R. T. (2003). Hypertrophic cardiomyopathy in a large community-based population: clinical outcome and identification of risk factors for sudden cardiac death and clinical deterioration. J Am Coll Cardiol 41: 987-993 [Abstract] [Full Text]  
• Marian, A. J. (2003). On predictors of sudden cardiac death in hypertrophic cardiomyopathy. J Am Coll Cardiol 41: 994-996 [Full Text]  
• Knollmann, B. C., Kirchhof, P., Sirenko, S. G., Degen, H., Greene, A. E., Schober, T., Mackow, J. C., Fabritz, L., Potter, J. D., Morad, M. (2003). Familial Hypertrophic Cardiomyopathy-Linked Mutant Troponin T Causes Stress-Induced Ventricular Tachycardia and Ca2+-Dependent Action Potential Remodeling. Circ. Res. 92: 428-436 [Abstract] [Full Text]  
• Hengstenberg, C, Erdmann, J, Charron, P (2003). Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations: Prediction of clinical status--is molecular genetics a new tool for the management of hypertrophic cardiomyopathy in clinical practice?. Cardiovasc Res 57: 298-301 [Full Text]  
• Havndrup, O., Bundgaard, H., Skytt Andersen, P., Allan Larsen, L., Vuust, J., Kjeldsen, K., Christiansen, M. (2003). Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac {beta}-myosin gene mutations. Cardiovasc Res 57: 347-357 [Abstract] [Full Text]  
• Hinkle, A., Tobacman, L. S. (2003). Folding and Function of the Troponin Tail Domain. EFFECTS OF CARDIOMYOPATHIC TROPONIN T MUTATIONS. J. Biol. Chem. 278: 506-513 [Abstract] [Full Text]  
• Sipola, P., Lauerma, K., Husso-Saastamoinen, M., Kuikka, J. T., Vanninen, E., Laitinen, T., Manninen, H., Niemi, P., Peuhkurinen, K., Jaaskelainen, P., Laakso, M., Kuusisto, J., Aronen, H. J. (2003). First-Pass MR Imaging in the Assessment of Perfusion Impairment in Patients with Hypertrophic Cardiomyopathy and the Asp175Asn Mutation of the {alpha}-Tropomyosin Gene. Radiology 226: 129-137 [Abstract] [Full Text]  
• Van Driest, S. L., Ackerman, M. J., Ommen, S. R., Shakur, R., Will, M. L., Nishimura, R. A., Tajik, A. J., Gersh, B. J. (2002). Prevalence and Severity of "Benign" Mutations in the {beta}-Myosin Heavy Chain, Cardiac Troponin T, and {alpha}-Tropomyosin Genes in Hypertrophic Cardiomyopathy. Circulation 106: 3085-3090 [Abstract] [Full Text]  
• Petersen, H. H., Choy, J., Stauffer, B., Moien-Afshari, F., Aalkjaer, C., Leinwand, L., McManus, B. M., Laher, I. (2002). Coronary artery myogenic response in a genetic model of hypertrophic cardiomyopathy. Am. J. Physiol. Heart Circ. Physiol. 283: H2244-H2249 [Abstract] [Full Text]  
• Fatkin, D., Graham, R. M. (2002). Molecular Mechanisms of Inherited Cardiomyopathies. Physiol. Rev. 82: 945-980 [Abstract] [Full Text]  
• Ackerman, M. J., VanDriest, S. L., Ommen, S. R., Will, M. L., Nishimura, R. A., Tajik, A. J., Gersh, B. J. (2002). Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin t genes in hypertrophic cardiomyopathy: A comprehensive outpatient perspective. J Am Coll Cardiol 39: 2042-2048 [Abstract] [Full Text]  
• McKenna, W. J., Mogensen, J., Elliott, P. M. (2002). Role of genotyping in risk factor assessment for sudden death in hypertrophic cardiomyopathy. J Am Coll Cardiol 39: 2049-2051 [Full Text]  
• Biesiadecki, B. J., Jin, J.-P. (2002). Exon Skipping in Cardiac Troponin T of Turkeys with Inherited Dilated Cardiomyopathy. J. Biol. Chem. 277: 18459-18468 [Abstract] [Full Text]  
• Maron, B. J. (2002). Hypertrophic Cardiomyopathy: A Systematic Review. JAMA 287: 1308-1320 [Abstract] [Full Text]  
• Blair, E., Redwood, C., de Jesus Oliveira, M., Moolman-Smook, J.C., Brink, P., Corfield, V.A., Ostman-Smith, I., Watkins, H. (2002). Mutations of the Light Meromyosin Domain of the {beta}-Myosin Heavy Chain Rod in Hypertrophic Cardiomyopathy. Circ. Res. 90: 263-269 [Abstract] [Full Text]  
• McKenna, W. J, Behr, E. R (2002). Hypertrophic cardiomyopathy: management, risk stratification, and prevention of sudden death. Heart 87: 169-176 [Full Text]  
• Niimura, H., Patton, K. K., McKenna, W. J., Soults, J., Maron, B. J., Seidman, J.G., Seidman, C. E. (2002). Sarcomere Protein Gene Mutations in Hypertrophic Cardiomyopathy of the Elderly. Circulation 105: 446-451 [Abstract] [Full Text]  
• Andersen, P. S., Havndrup, O., Bundgaard, H., Moolman-Smook, J. C., Larsen, L. A., Mogensen, J., Brink, P. A., Borglum, A. D., Corfield, V. A., Kjeldsen, K., Vuust, J., Christiansen, M. (2001). Myosin light chain mutations in familial hypertrophic cardiomyopathy: phenotypic presentation and frequency in Danish and South African populations. J. Med. Genet. 38 : e43-e43 [Full Text]  
• Li, D., Czernuszewicz, G. Z., Gonzalez, O., Tapscott, T., Karibe, A., Durand, J.-B., Brugada, R., Hill, R., Gregoritch, J. M., Anderson, J. L., Quinones, M., Bachinski, L. L., Roberts, R. (2001). Novel Cardiac Troponin T Mutation as a Cause of Familial Dilated Cardiomyopathy. Circulation 104: 2188-2193 [Abstract] [Full Text]  
• Roberts, R., Sigwart, U. (2001). New Concepts in Hypertrophic Cardiomyopathies, Part I. Circulation 104: 2113-2116 [Full Text]  
• Janse, M.J., De Bakker, J.M.T. (2001). Arrhythmia substrate and management in hypertrophic cardiomyopathy: from molecules to implantable card ioverter-defibrillators. Eur Heart J Suppl 3: L15-L20 [Abstract]  
• Watkins, H. (2001). Hypertrophic cardiomyopathy: from molecular and genetic mechanisms to clinical management. Eur Heart J Suppl 3: L43-L50 [Abstract]  
• Exner, D. V., Klein, G. J., Prystowsky, E. N. (2001). Primary Prevention of Sudden Death With Implantable Defibrillator Therapy in Patients With Cardiac Disease: Can We Afford to Do It? (Can We Afford Not To?). Circulation 104: 1564-1570 [Full Text]  
• Varnava, A. M., Elliott, P. M., Baboonian, C., Davison, F., Davies, M. J., McKenna, W. J. (2001). Hypertrophic Cardiomyopathy: Histopathological Features of Sudden Death in Cardiac Troponin T Disease. Circulation 104: 1380-1384 [Abstract] [Full Text]  
• Priori, S.G., Aliot, E., Blomstrom-Lundqvist, C., Bossaert, L., Breithardt, G., Brugada, P., Camm, A.J., Cappato, R., Cobbe, S.M., Di Mario, C., Maron, B.J., McKenna, W.J., Pedersen, A.K., Ravens, U., Schwartz, P.J., Trusz-Gluza, M., Vardas, P., Wellens, H.J.J., Zipes, D.P. (2001). Task Force on Sudden Cardiac Death of the European Society of Cardiology. Eur Heart J 22: 1374-1450  
• Maron, B. J., Niimura, H., Casey, S. A., Soper, M. K., Wright, G. B., Seidman, J. G., Seidman, C. E. (2001). Development of left ventricular hypertrophy in adults with hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations. J Am Coll Cardiol 38: 315-321 [Abstract] [Full Text]  
• Erdmann, J., Raible, J.o., Maki-Abadi, J., Hummel, M., Hammann, J., Wollnik, B., Frantz, E., Fleck, E., Hetzer, R., Regitz-Zagrosek, V. (2001). Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy. J Am Coll Cardiol 38: 322-330 [Abstract] [Full Text]  
• Marian, A. J. (2001). On genetic and phenotypic variability of hypertrophic cardiomyopathy: nature versus nurture. J Am Coll Cardiol 38: 331-334 [Full Text]  
• Priori, S. G, Napolitano, C., Grillo, M. (2001). Concealed arrhythmogenic syndromes: the hidden substrate of idiopathic ventricular fibrillation?. Cardiovasc Res 50: 218-223 [Abstract] [Full Text]  
• Hernandez, O. M., Housmans, P. R., Potter, J. D. (2001). Plasticity in Skeletal, Cardiac, and Smooth Muscle: Invited Review: Pathophysiology of cardiac muscle contraction and relaxation as a result of alterations in thin filament regulation. J. Appl. Physiol. 90: 1125-1136 [Abstract] [Full Text]  
• MOGENSEN, J., ANDERSEN, P. S., STEFFENSEN, U., CHRISTIANSEN, M., EGEBLAD, H., GREGERSEN, N., BØRGLUM, A. D. (2001). Development and application of linkage analysis in genetic diagnosis of familial hypertrophic cardiomyopathy. J. Med. Genet. 38: 193-198 [Full Text]  
• Olsson, M. C., Palmer, B. M., Leinwand, L. A., Moore, R. L. (2001). Gender and aging in a transgenic mouse model of hypertrophic cardiomyopathy. Am. J. Physiol. Heart Circ. Physiol. 280: H1136-H1144 [Abstract] [Full Text]  
• Fatkin, D., Graham, R. M., Spirito, P., Maron, B. J. (2001). Prognostic Value of Left Ventricular Hypertrophy in Hypertrophic Cardiomyopathy. NEJM 344: 63-65 [Full Text]  
• Karibe, A., Tobacman, L. S., Strand, J., Butters, C., Back, N., Bachinski, L. L., Arai, A. E., Ortiz, A., Roberts, R., Homsher, E., Fananapazir, L. (2001). Hypertrophic Cardiomyopathy Caused by a Novel {{alpha}}-Tropomyosin Mutation (V95A) Is Associated With Mild Cardiac Phenotype, Abnormal Calcium Binding to Troponin, Abnormal Myosin Cycling, and Poor Prognosis. Circulation 103: 65-71 [Abstract] [Full Text]  
• Marin-Garcia, J., Goldenthal, M. J, Moe, G. W (2001). Mitochondrial pathology in cardiac failure. Cardiovasc Res 49: 17-26 [Full Text]  
• Elliott, P. M., Poloniecki, J., Dickie, S., Sharma, S., Monserrat, L., Varnava, A., Mahon, N. G., McKenna, W. J. (2000). Sudden death in hypertrophic cardiomyopathy: identification of high risk patients. J Am Coll Cardiol 36: 2212-2218 [Abstract] [Full Text]  
• MOOLMAN-SMOOK, J., DE LANGE, W., CORFIELD, V., BRINK, P. (2000). Expression of HCM causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation. J. Med. Genet. 37: 951-956 [Full Text]  
• Evans, C. C., Pena, J. R., Phillips, R. M., Muthuchamy, M., Wieczorek, D. F., Solaro, R. J., Wolska, B. M. (2000). Altered hemodynamics in transgenic mice harboring mutant tropomyosin linked to hypertrophic cardiomyopathy. Am. J. Physiol. Heart Circ. Physiol. 279: H2414-H2423 [Abstract] [Full Text]  
• Regitz-Zagrosek, V., Erdmann, J., Wellnhofer, E., Raible, J., Fleck, E. (2000). Novel Mutation in the {alpha}-Tropomyosin Gene and Transition From Hypertrophic to Hypocontractile Dilated Cardiomyopathy. Circulation 102 : e112-e116 [Full Text]  
• Ho, C. Y., Lever, H. M., DeSanctis, R., Farver, C. F., Seidman, J. G., Seidman, C. E. (2000). Homozygous Mutation in Cardiac Troponin T : Implications for Hypertrophic Cardiomyopathy. Circulation 102: 1950-1955 [Abstract] [Full Text]