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Volumn 70, Issue 18, 2017, Pages 2264-2274

Phenotype and Clinical Outcomes of Titin Cardiomyopathy

Author keywords

CMR; DCM; genetics; titin

Indexed keywords

CONNECTIN; GADOLINIUM; TTN PROTEIN, HUMAN;

EID: 85032841120     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2017.08.063     Document Type: Article
Times cited : (87)

References (25)
  • 1
    • 84883163817 scopus 로고    scopus 로고
    • Dilated cardiomyopathy: the complexity of a diverse genetic architecture
    • Hershberger, R.E., Hedges, D.J., Morales, A., Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol 10 (2013), 531–547.
    • (2013) Nat Rev Cardiol , vol.10 , pp. 531-547
    • Hershberger, R.E.1    Hedges, D.J.2    Morales, A.3
  • 2
    • 33646693410 scopus 로고    scopus 로고
    • Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention
    • Maron, B.J., Towbin, J.A., Thiene, G., et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation 113 (2006), 1807–1816.
    • (2006) Circulation , vol.113 , pp. 1807-1816
    • Maron, B.J.1    Towbin, J.A.2    Thiene, G.3
  • 3
    • 85042149618 scopus 로고    scopus 로고
    • International Society of Heart and Lung Transplantation Quarterly Report. 2015 edition. Available at: Accessed September 9.
    • International Society of Heart and Lung Transplantation Quarterly Report. 2015 edition. Available at: https://www.ishlt.org/registries/quarterlyDataReportStep3.asp?organ=HR&rptType=tx_char. Accessed September 9, 2017.
    • (2017)
  • 4
    • 84990029434 scopus 로고    scopus 로고
    • Defibrillator implantation in patients with nonischemic systolic heart failure
    • Kober, L., Thune, J.J., Nielsen, J.C., et al. Defibrillator implantation in patients with nonischemic systolic heart failure. N Engl J Med 375 (2016), 1221–1230.
    • (2016) N Engl J Med , vol.375 , pp. 1221-1230
    • Kober, L.1    Thune, J.J.2    Nielsen, J.C.3
  • 5
    • 84874719002 scopus 로고    scopus 로고
    • Association of fibrosis with mortality and sudden cardiac death in patients with nonischemic dilated cardiomyopathy
    • Gulati, A., Jabbour, A., Ismail, T.F., et al. Association of fibrosis with mortality and sudden cardiac death in patients with nonischemic dilated cardiomyopathy. JAMA 309 (2013), 896–908.
    • (2013) JAMA , vol.309 , pp. 896-908
    • Gulati, A.1    Jabbour, A.2    Ismail, T.F.3
  • 6
    • 84988449067 scopus 로고    scopus 로고
    • Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease
    • Roberts, A.M., Ware, J.S., Herman, D.S., et al. Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. Sci Transl Med, 7, 2015, 270ra276.
    • (2015) Sci Transl Med , vol.7 , pp. 270ra276
    • Roberts, A.M.1    Ware, J.S.2    Herman, D.S.3
  • 7
    • 84863116641 scopus 로고    scopus 로고
    • Truncations of titin causing dilated cardiomyopathy
    • Herman, D.S., Lam, L., Taylor, M.R., et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med 366 (2012), 619–628.
    • (2012) N Engl J Med , vol.366 , pp. 619-628
    • Herman, D.S.1    Lam, L.2    Taylor, M.R.3
  • 8
    • 85008213299 scopus 로고    scopus 로고
    • Titin truncating variants in dilated cardiomyopathy–prevalence and genotype-phenotype correlations
    • Franaszczyk, M., Chmielewski, P., Truszkowska, G., et al. Titin truncating variants in dilated cardiomyopathy–prevalence and genotype-phenotype correlations. PLoS One, 12, 2017, e0169007.
    • (2017) PLoS One , vol.12 , pp. e0169007
    • Franaszczyk, M.1    Chmielewski, P.2    Truszkowska, G.3
  • 9
    • 84996837298 scopus 로고    scopus 로고
    • Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy
    • Jansweijer, J.A., Nieuwhof, K., Russo, F., et al. Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy. Eur J Heart Fail 19 (2017), 512–521.
    • (2017) Eur J Heart Fail , vol.19 , pp. 512-521
    • Jansweijer, J.A.1    Nieuwhof, K.2    Russo, F.3
  • 10
    • 33745889016 scopus 로고    scopus 로고
    • Normalized left ventricular systolic and diastolic function by steady state free precession cardiovascular magnetic resonance
    • Maceira, A.M., Prasad, S.K., Khan, M., Pennell, D.J., Normalized left ventricular systolic and diastolic function by steady state free precession cardiovascular magnetic resonance. J Cardiovasc Magn Reson 8 (2006), 417–426.
    • (2006) J Cardiovasc Magn Reson , vol.8 , pp. 417-426
    • Maceira, A.M.1    Prasad, S.K.2    Khan, M.3    Pennell, D.J.4
  • 11
    • 15944403997 scopus 로고    scopus 로고
    • Clinical and genetic issues in familial dilated cardiomyopathy
    • Burkett, E.L., Hershberger, R.E., Clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol 45 (2005), 969–981.
    • (2005) J Am Coll Cardiol , vol.45 , pp. 969-981
    • Burkett, E.L.1    Hershberger, R.E.2
  • 12
    • 84856194138 scopus 로고    scopus 로고
    • Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study
    • van Rijsingen, I.A., Arbustini, E., Elliott, P.M., et al. Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study. J Am Coll Cardiol 59 (2012), 493–500.
    • (2012) J Am Coll Cardiol , vol.59 , pp. 493-500
    • van Rijsingen, I.A.1    Arbustini, E.2    Elliott, P.M.3
  • 13
    • 85019097365 scopus 로고    scopus 로고
    • Truncating variants in titin independently predict early arrhythmias in patients with dilated cardiomyopathy
    • Tayal, U., Newsome, S., Buchan, R., et al. Truncating variants in titin independently predict early arrhythmias in patients with dilated cardiomyopathy. J Am Coll Cardiol 69 (2017), 2466–2468.
    • (2017) J Am Coll Cardiol , vol.69 , pp. 2466-2468
    • Tayal, U.1    Newsome, S.2    Buchan, R.3
  • 14
    • 84878316103 scopus 로고    scopus 로고
    • Clinical utility and prognostic value of left atrial volume assessment by cardiovascular magnetic resonance in non-ischaemic dilated cardiomyopathy
    • Gulati, A., Ismail, T.F., Jabbour, A., et al. Clinical utility and prognostic value of left atrial volume assessment by cardiovascular magnetic resonance in non-ischaemic dilated cardiomyopathy. Eur J Heart Fail 15 (2013), 660–670.
    • (2013) Eur J Heart Fail , vol.15 , pp. 660-670
    • Gulati, A.1    Ismail, T.F.2    Jabbour, A.3
  • 15
    • 84959167821 scopus 로고    scopus 로고
    • Development of a comprehensive sequencing assay for inherited cardiac condition genes
    • Pua, C.J., Bhalshankar, J., Miao, K., et al. Development of a comprehensive sequencing assay for inherited cardiac condition genes. J Cardiovasc Transl Res 9 (2016), 3–11.
    • (2016) J Cardiovasc Transl Res , vol.9 , pp. 3-11
    • Pua, C.J.1    Bhalshankar, J.2    Miao, K.3
  • 16
    • 84937681428 scopus 로고    scopus 로고
    • 2014 ACC/AHA key data elements and definitions for cardiovascular endpoint events in clinical trials: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Data Standards (Writing Committee to Develop Cardiovascular Endpoints Data Standards)
    • Hicks, K.A., Tcheng, J.E., Bozkurt, B., et al. 2014 ACC/AHA key data elements and definitions for cardiovascular endpoint events in clinical trials: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Data Standards (Writing Committee to Develop Cardiovascular Endpoints Data Standards). J Am Coll Cardiol 66 (2015), 403–469.
    • (2015) J Am Coll Cardiol , vol.66 , pp. 403-469
    • Hicks, K.A.1    Tcheng, J.E.2    Bozkurt, B.3
  • 17
    • 33748642599 scopus 로고    scopus 로고
    • 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)
    • Zipes, D.P., Camm, A.J., Borggrefe, M., et al. 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 (2006), e247–e346.
    • (2006) J Am Coll Cardiol , vol.48 , pp. e247-e346
    • Zipes, D.P.1    Camm, A.J.2    Borggrefe, M.3
  • 18
    • 68249150705 scopus 로고    scopus 로고
    • Natural history of dilated cardiomyopathy: from asymptomatic left ventricular dysfunction to heart failure—a subgroup analysis from the Trieste Cardiomyopathy Registry
    • Aleksova, A., Sabbadini, G., Merlo, M., et al. Natural history of dilated cardiomyopathy: from asymptomatic left ventricular dysfunction to heart failure—a subgroup analysis from the Trieste Cardiomyopathy Registry. J Cardiovasc Med (Hagerstown) 10 (2009), 699–705.
    • (2009) J Cardiovasc Med (Hagerstown) , vol.10 , pp. 699-705
    • Aleksova, A.1    Sabbadini, G.2    Merlo, M.3
  • 19
    • 85018833039 scopus 로고    scopus 로고
    • Association between mid-wall late gadolinium enhancement and sudden cardiac death in patients with dilated cardiomyopathy and mild and moderate left ventricular systolic dysfunction
    • Halliday, B., Gulati, A., Ali, A., et al. Association between mid-wall late gadolinium enhancement and sudden cardiac death in patients with dilated cardiomyopathy and mild and moderate left ventricular systolic dysfunction. Circulation 135 (2017), 2106–2211.
    • (2017) Circulation , vol.135 , pp. 2106-2211
    • Halliday, B.1    Gulati, A.2    Ali, A.3
  • 20
    • 84949883742 scopus 로고    scopus 로고
    • An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish
    • Zou, J., Tran, D., Baalbaki, M., et al. An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish. Elife, 4, 2015, e09406.
    • (2015) Elife , vol.4 , pp. e09406
    • Zou, J.1    Tran, D.2    Baalbaki, M.3
  • 21
    • 84975223393 scopus 로고    scopus 로고
    • Physiological and pathological cardiac hypertrophy
    • Shimizu, I., Minamino, T., Physiological and pathological cardiac hypertrophy. J Mol Cell Cardiol 97 (2016), 245–262.
    • (2016) J Mol Cell Cardiol , vol.97 , pp. 245-262
    • Shimizu, I.1    Minamino, T.2
  • 22
    • 84957922925 scopus 로고    scopus 로고
    • mTOR, cardiomyocytes and inflammation in cardiac hypertrophy
    • Xu, L., Brink, M., mTOR, cardiomyocytes and inflammation in cardiac hypertrophy. Biochim Biophys Acta 1863 (2016), 1894–1903.
    • (2016) Biochim Biophys Acta , vol.1863 , pp. 1894-1903
    • Xu, L.1    Brink, M.2
  • 23
    • 84997611193 scopus 로고    scopus 로고
    • Titin-truncating variants affect heart function in disease cohorts and the general population
    • Schafer, S., de Marvao, A., Adami, E., et al. Titin-truncating variants affect heart function in disease cohorts and the general population. Nat Genet 49 (2017), 46–53.
    • (2017) Nat Genet , vol.49 , pp. 46-53
    • Schafer, S.1    de Marvao, A.2    Adami, E.3
  • 24
    • 84901449140 scopus 로고    scopus 로고
    • The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing
    • Pugh, T.J., Kelly, M.A., Gowrisankar, S., et al. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med 16 (2014), 601–608.
    • (2014) Genet Med , vol.16 , pp. 601-608
    • Pugh, T.J.1    Kelly, M.A.2    Gowrisankar, S.3
  • 25
    • 85007524726 scopus 로고    scopus 로고
    • Primary prevention of sudden arrhythmic death in dilated cardiomyopathy: current guidelines and risk stratification
    • Arbustini, E., Disertori, M., Narula, J., Primary prevention of sudden arrhythmic death in dilated cardiomyopathy: current guidelines and risk stratification. J Am Coll Cardiol HF 5 (2017), 39–43.
    • (2017) J Am Coll Cardiol HF , vol.5 , pp. 39-43
    • Arbustini, E.1    Disertori, M.2    Narula, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.