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  • Cited by 7
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    This article has been cited by the following publications. This list is generated based on data provided by CrossRef.

    Li, Monica X. and Hwang, Peter M. 2015. Structure and function of cardiac troponin C (TNNC1): Implications for heart failure, cardiomyopathies, and troponin modulating drugs. Gene, Vol. 571, Issue. 2, p. 153.

    Katrukha, I. A. 2013. Human cardiac troponin complex. Structure and functions. Biochemistry (Moscow), Vol. 78, Issue. 13, p. 1447.

    Robertson, Ian M. Sevrieva, Ivanka Li, Monica X. Irving, Malcolm Sun, Yin-Biao and Sykes, Brian D. 2015. The structural and functional effects of the familial hypertrophic cardiomyopathy-linked cardiac troponin C mutation, L29Q. Journal of Molecular and Cellular Cardiology, Vol. 87, p. 257.

    Kocovski, Linda and Fernandes, John 2015. Sudden Cardiac Death: A Modern Pathology Approach to Hypertrophic Cardiomyopathy. Archives of Pathology & Laboratory Medicine, Vol. 139, Issue. 3, p. 413.

    Li, Wan Chen, Lina Jia, Xu Feng, Chenchen He, Yuehan Du, Youwen Hou, Min and Li, Xiaoqing 2014. 2014 11th International Conference on Fuzzy Systems and Knowledge Discovery (FSKD). p. 531.

    Zot, Henry G. Hasbun, Javier E. Michell, Clara A. Landim-Vieira, Maicon and Pinto, Jose R. 2016. Enhanced troponin I binding explains the functional changes produced by the hypertrophic cardiomyopathy mutation A8V of cardiac troponin C. Archives of Biochemistry and Biophysics, Vol. 601, p. 97.

    Gollapudi, Sampath K. and Chandra, Murali 2012. Cardiomyopathy-Related Mutations in Cardiac Troponin C, L29Q and G159D, Have Divergent Effects on Rat Cardiac Myofiber Contractile Dynamics. Biochemistry Research International, Vol. 2012, p. 1.


Novel frameshift mutation in Troponin C (TNNC1) associated with hypertrophic cardiomyopathy and sudden death

  • Wendy K. Chung (a1), Carrie Kitner (a2) and Barry J. Maron (a2)
  • DOI:
  • Published online: 25 January 2011

Hypertrophic cardiomyopathy is the most common cause of sudden death in young people, including trained athletes, and is caused by mutations in genes encoding proteins of the cardiac sarcomere. Mutations in the Troponin C gene (TNNC1) are a rare genetic cause of hypertrophic cardiomyopathy. We describe a novel type of mutation (c.363dupG) in Troponin C, a rare form of hypertrophic cardiomyopathy.


A family in which a 19-year-old asymptomatic male died of sudden cardiac death due to hypertrophic cardiomyopathy was genetically studied by sequencing 17 genes associated with hypertrophic cardiomyopathy or its phenocopies.


A c.363dupG mutation in Troponin C was identified, and tested across the family.


We report the first frameshift mutation (c.363dupG or p.Gln122AlafsX30) in Troponin C causing hypertrophic cardiomyopathy (and sudden cardiac death) in a 19-year-old male, and have demonstrated that the mutation segregates with hypertrophic cardiomyopathy within the family.

Corresponding author
Correspondence to: Dr W. Chung, MD PhD, Departments of Pediatrics and Medicine, Columbia University Medical Center, 1150 Street Nicholas Avenue, Room 620, New York 10032, United States of America. Tel: (212)851 5313; Fax: (212)851 5306; E-mail:
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1.BJ Maron , JM Gardin , JM Flack , SS Gidding , TT Kurosaki , DE Bild . Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary artery risk development in (young) adults. Circulation 1995; 92: 785789.

2.BJ Maron , JJ Doerer , TS Haas , DM Tierney , FO Mueller . Sudden deaths in young competitive athletes: analysis of 1866 deaths in the U.S., 1980–2006. Circulation 2009; 119: 10851092.

3.B Hoffmann , H Schmidt-Traub , A Perrot , KJ Osterziel , R Gessner . First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. Hum Mutat 2001; 17: 524.

4.AP Landstrom , MS Parvatiyar , JR Pinto , Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. J Mol Cell Cardiol 2008; 45: 281288.

5.J Mogensen , RT Murphy , T Shaw , Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol 2004; 44: 20332040.

6.BJ Maron . Hypertrophic cardiomyopathy: a systematic review. JAMA 2002; 287: 13081320.

7.BJ Maron , WJ McKenna , GK Danielson , 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 2003; 42: 16871713.

8.DA Lindhout , BD Sykes . Structure and dynamics of the C-domain of human cardiac troponin C in complex with the inhibitory region of human cardiac troponin I. J Biol Chem 2003; 278: 2702427034.

9.BJ Maron , P Spirito , WK Shen , Implantable cardioverter-defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy. JAMA 2007; 298: 405412.

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Cardiology in the Young
  • ISSN: 1047-9511
  • EISSN: 1467-1107
  • URL: /core/journals/cardiology-in-the-young
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