Korean Circulation Journal

The Korean Society of Cardiology (대한심장학회)
권호 표지
DOI QR코드

DOI QR Code

Cardiomyopathies with Mixed and Inapparent Morphological Features in Cardiac Troponin I3 Mutation

  • Sohn, Dae-Won (Division of Cardiology, Department of Internal Medicine, Seoul National University College of Medicine) ;
  • Kim, Hyung-Kwan (Division of Cardiology, Department of Internal Medicine, Seoul National University College of Medicine) ;
  • Kim, Yong-Jin (Division of Cardiology, Department of Internal Medicine, Seoul National University College of Medicine) ;
  • Oh, Seil (Division of Cardiology, Department of Internal Medicine, Seoul National University College of Medicine) ;
  • Seong, Moon-Woo (Department of Laboratory Medicine, Seoul National University College of Medicine) ;
  • Park, Sung-Sup (Department of Laboratory Medicine, Seoul National University College of Medicine)
  • Received : 2016.08.25
  • Accepted : 2016.10.25
  • Published : 2017.05.31
⟨ Previous Next ⟩

Abstract

The fact that different types of cardiomyopathies can be manifested by the same sarcomere protein gene mutation in a single family is well known. However, mixed features of different types of cardiomyopathies in a single patient have not been well appreciated. We identified a novel mutation in cardiac troponin I3 (Arg186Gly) in the present case, and two of the family members showed mixed morphologic features of hypertrophic cardiomyopathy and left ventricular non-compaction. Moreover, both the features of cardiomyopathies were not apparent for each type of cardiomyopathy. In the patient's family, four other members had unexpected deaths before the age of 30.

Keywords

References

  1. Geisterfer-Lowrance AA, Kass S, Tanigawa G, et al. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell 1990;62:999-1006. https://doi.org/10.1016/0092-8674(90)90274-I
  2. Thierfelder L, Watkins H, MacRae C, et al. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 1994;77:701-12. https://doi.org/10.1016/0092-8674(94)90054-X
  3. Watkins H, Conner D, Thierfelder L, et al. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet 1995;11:434-7. https://doi.org/10.1038/ng1295-434
  4. Watkins H, McKenna WJ, Thierfelder L, et al. Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med 1995;332:1058-64. https://doi.org/10.1056/NEJM199504203321603
  5. Bonne G, Carrier L, Bercovici J, et al. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet 1995;11:438-40. https://doi.org/10.1038/ng1295-438
  6. Kimura A, Harada H, Park JE, et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet 1997;16:379-82. https://doi.org/10.1038/ng0897-379
  7. Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 1998;280:750-2. https://doi.org/10.1126/science.280.5364.750
  8. Satoh M, Takahashi M, Sakamoto T, Hiroe M, Marumo F, Kimura A. Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. Biochem Biophys Res Commun 1999;262:411-7. https://doi.org/10.1006/bbrc.1999.1221
  9. Mogensen J, Klausen IC, Pedersen AK, et al. Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest 1999;103:R39-43. https://doi.org/10.1172/JCI4236
  10. Menon SC, Michels VV, Pellikka PA, et al. Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. Clin Genet 2008;74:445-54. https://doi.org/10.1111/j.1399-0004.2008.01062.x
  11. Willott RH, Gomes AV, Chang AN, Parvatiyar MS, Pinto JR, Potter JD. Mutations in troponin that cause HCM, DCM AND RCM: what can we learn about thin filament function? J Mol Cell Cardiol 2010;48:882-92. https://doi.org/10.1016/j.yjmcc.2009.10.031
  12. Kokado H, Shimizu M, Yoshio H, et al. Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene. Circulation 2000;102:663-9. https://doi.org/10.1161/01.CIR.102.6.663
  13. Mogensen J, Murphy RT, Kubo T, et al. Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. J Am Coll Cardiol 2004;44:2315-25. https://doi.org/10.1016/j.jacc.2004.05.088
  14. Mogensen J, Kubo T, Duque M, et al. Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. J Clin Invest 2003;111:209-16. https://doi.org/10.1172/JCI200316336

Cited by

  1. Portrait of Tissue-Specific Coexpression Networks of Noncoding RNAs (miRNA and lncRNA) and mRNAs in Normal Tissues vol.2019, pp.None, 2017, https://doi.org/10.1155/2019/9029351
  2. Syndrome of Primary Myocardial Hypertrophy: Clinical and Morphological, Genetic Diagnostics and Comparison of Sarcomerial Variants of Cardiomyopathy and its Phenocopy vol.15, pp.4, 2017, https://doi.org/10.20996/1819-6446-2019-15-4-484-494
  3. Obscurin and Clusterin Elevation in Serum of Acute Myocardial Infarction Patients vol.41, pp.3, 2020, https://doi.org/10.1002/bkcs.11955