메뉴 건너뛰기




Volumn 69, Issue 13, 2017, Pages 1653-1665

Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis

Author keywords

cardiomyocytes; children; genetics; immunity; sequencing; virus

Indexed keywords

ALPHA INTERFERON; BETA INTERFERON; RYANODINE RECEPTOR 2; SODIUM CHANNEL NAV1.5; STAT1 PROTEIN; TOLL LIKE RECEPTOR 3; STAT1 PROTEIN, HUMAN; TLR3 PROTEIN, HUMAN;

EID: 85016460270     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2017.01.043     Document Type: Article
Times cited : (87)

References (39)
  • 2
    • 33750121615 scopus 로고    scopus 로고
    • Incidence, causes, and outcomes of dilated cardiomyopathy in children
    • 2 Towbin, J.A., Lowe, A.M., Colan, S.D., et al. Incidence, causes, and outcomes of dilated cardiomyopathy in children. JAMA 296 (2006), 1867–1876.
    • (2006) JAMA , vol.296 , pp. 1867-1876
    • Towbin, J.A.1    Lowe, A.M.2    Colan, S.D.3
  • 3
    • 0023159837 scopus 로고
    • Coxsackievirus B3 murine myocarditis: a pathologic spectrum of myocarditis in genetically defined inbred strains
    • 3 Herskowitz, A., Wolfgram, L.J., Rose, N.R., Beisel, K.W., Coxsackievirus B3 murine myocarditis: a pathologic spectrum of myocarditis in genetically defined inbred strains. J Am Coll Cardiol 9 (1987), 1311–1319.
    • (1987) J Am Coll Cardiol , vol.9 , pp. 1311-1319
    • Herskowitz, A.1    Wolfgram, L.J.2    Rose, N.R.3    Beisel, K.W.4
  • 4
    • 79958040759 scopus 로고    scopus 로고
    • Quantitative trait locus analysis, pathway analysis, and consomic mapping show genetic variants of Tnni3k, Fpgt, or H28 control susceptibility to viral myocarditis
    • 4 Wiltshire, S.A., Leiva-Torres, G.A., Vidal, S.M., Quantitative trait locus analysis, pathway analysis, and consomic mapping show genetic variants of Tnni3k, Fpgt, or H28 control susceptibility to viral myocarditis. J Immunol 186 (2011), 6398–6405.
    • (2011) J Immunol , vol.186 , pp. 6398-6405
    • Wiltshire, S.A.1    Leiva-Torres, G.A.2    Vidal, S.M.3
  • 5
    • 84952683321 scopus 로고    scopus 로고
    • Human genetic basis of interindividual variability in the course of infection
    • 5 Casanova, J.L., Human genetic basis of interindividual variability in the course of infection. Proc Natl Acad Sci U S A 112 (2015), E7118–E7127.
    • (2015) Proc Natl Acad Sci U S A , vol.112 , pp. E7118-E7127
    • Casanova, J.L.1
  • 6
    • 84952685581 scopus 로고    scopus 로고
    • Severe infectious diseases of childhood as monogenic inborn errors of immunity
    • 6 Casanova, J.L., Severe infectious diseases of childhood as monogenic inborn errors of immunity. Proc Natl Acad Sci U S A 112 (2015), E7128–E7137.
    • (2015) Proc Natl Acad Sci U S A , vol.112 , pp. E7128-E7137
    • Casanova, J.L.1
  • 7
    • 84948577653 scopus 로고    scopus 로고
    • The 2015 IUIS phenotypic classification for primary immunodeficiencies
    • 7 Bousfiha, A., Jeddane, L., Al-Herz, W., et al. The 2015 IUIS phenotypic classification for primary immunodeficiencies. J Clin Immunol 35 (2015), 727–738.
    • (2015) J Clin Immunol , vol.35 , pp. 727-738
    • Bousfiha, A.1    Jeddane, L.2    Al-Herz, W.3
  • 8
    • 77954892280 scopus 로고    scopus 로고
    • A role for Toll-like receptor 3 variants in host susceptibility to enteroviral myocarditis and dilated cardiomyopathy
    • 8 Gorbea, C., Makar, K.A., Pauschinger, M., et al. A role for Toll-like receptor 3 variants in host susceptibility to enteroviral myocarditis and dilated cardiomyopathy. J Biol Chem 285 (2010), 23208–23223.
    • (2010) J Biol Chem , vol.285 , pp. 23208-23223
    • Gorbea, C.1    Makar, K.A.2    Pauschinger, M.3
  • 9
    • 10044294907 scopus 로고    scopus 로고
    • Protective role for interferon-beta in coxsackievirus B3 infection
    • 9 Deonarain, R., Cerullo, D., Fuse, K., Liu, P.P., Fish, E.N., Protective role for interferon-beta in coxsackievirus B3 infection. Circulation 110 (2004), 3540–3543.
    • (2004) Circulation , vol.110 , pp. 3540-3543
    • Deonarain, R.1    Cerullo, D.2    Fuse, K.3    Liu, P.P.4    Fish, E.N.5
  • 10
    • 58149510024 scopus 로고    scopus 로고
    • A critical link between Toll-like receptor 3 and type II interferon signaling pathways in antiviral innate immunity
    • 10 Negishi, H., Osawa, T., Ogami, K., et al. A critical link between Toll-like receptor 3 and type II interferon signaling pathways in antiviral innate immunity. Proc Natl Acad Sci U S A 105 (2008), 20446–20451.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 20446-20451
    • Negishi, H.1    Osawa, T.2    Ogami, K.3
  • 11
    • 33645787761 scopus 로고    scopus 로고
    • Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo
    • 11 Chapgier, A., Wynn, R.F., Jouanguy, E., et al. Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo. J Immunol 176 (2006), 5078–5083.
    • (2006) J Immunol , vol.176 , pp. 5078-5083
    • Chapgier, A.1    Wynn, R.F.2    Jouanguy, E.3
  • 12
    • 80555144890 scopus 로고    scopus 로고
    • Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity
    • 12 Guo, Y., Audry, M., Ciancanelli, M., et al. Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity. J Exp Med 208 (2011), 2083–2098.
    • (2011) J Exp Med , vol.208 , pp. 2083-2098
    • Guo, Y.1    Audry, M.2    Ciancanelli, M.3
  • 13
    • 84990036865 scopus 로고    scopus 로고
    • Autonomous and non-autonomous defects underlie hypertrophic cardiomyopathy in BRAF-mutant hiPSC-derived cardiomyocytes
    • 13 Josowitz, R., Mulero-Navarro, S., Rodriguez, N.A., et al. Autonomous and non-autonomous defects underlie hypertrophic cardiomyopathy in BRAF-mutant hiPSC-derived cardiomyocytes. Stem Cell Reports 7 (2016), 355–369.
    • (2016) Stem Cell Reports , vol.7 , pp. 355-369
    • Josowitz, R.1    Mulero-Navarro, S.2    Rodriguez, N.A.3
  • 14
    • 0023069681 scopus 로고
    • Myocarditis: a histopathologic definition and classification
    • 14 Aretz, H.T., Billingham, M.E., Edwards, W.D., et al. Myocarditis: a histopathologic definition and classification. Am J Cardiovasc Pathol 1 (1987), 3–14.
    • (1987) Am J Cardiovasc Pathol , vol.1 , pp. 3-14
    • Aretz, H.T.1    Billingham, M.E.2    Edwards, W.D.3
  • 15
    • 84942084937 scopus 로고    scopus 로고
    • Myocardial inflammation on cardiovascular magnetic resonance predicts left ventricular function recovery in children with recent dilated cardiomyopathy
    • 15 Raimondi, F., Iserin, F., Raisky, O., et al. Myocardial inflammation on cardiovascular magnetic resonance predicts left ventricular function recovery in children with recent dilated cardiomyopathy. Eur Heart J Cardiovasc Imaging 16 (2015), 756–762.
    • (2015) Eur Heart J Cardiovasc Imaging , vol.16 , pp. 756-762
    • Raimondi, F.1    Iserin, F.2    Raisky, O.3
  • 16
    • 84907140891 scopus 로고    scopus 로고
    • Human induced pluripotent stem cell-derived cardiomyocytes as an in vitro model for coxsackievirus B3-induced myocarditis and antiviral drug screening platform
    • 16 Sharma, A., Marceau, C., Hamaguchi, R., et al. Human induced pluripotent stem cell-derived cardiomyocytes as an in vitro model for coxsackievirus B3-induced myocarditis and antiviral drug screening platform. Circ Res 115 (2014), 556–566.
    • (2014) Circ Res , vol.115 , pp. 556-566
    • Sharma, A.1    Marceau, C.2    Hamaguchi, R.3
  • 17
    • 10744223476 scopus 로고    scopus 로고
    • VSV strains with defects in their ability to shutdown innate immunity are potent systemic anti-cancer agents
    • 17 Stojdl, D.F., Lichty, B.D., tenOever, B.R., et al. VSV strains with defects in their ability to shutdown innate immunity are potent systemic anti-cancer agents. Cancer Cell 4 (2003), 263–275.
    • (2003) Cancer Cell , vol.4 , pp. 263-275
    • Stojdl, D.F.1    Lichty, B.D.2    tenOever, B.R.3
  • 18
    • 84944148363 scopus 로고    scopus 로고
    • Left ventricular non-compaction progression to dilated cardiomyopathy following acute myocarditis in an early infant twin
    • 18 Cho, H.J., Ma, J.S., Left ventricular non-compaction progression to dilated cardiomyopathy following acute myocarditis in an early infant twin. Minerva Pediatr 67 (2015), 199–202.
    • (2015) Minerva Pediatr , vol.67 , pp. 199-202
    • Cho, H.J.1    Ma, J.S.2
  • 19
    • 84925303177 scopus 로고    scopus 로고
    • Genetics of myocarditis in arrhythmogenic right ventricular dysplasia
    • 19 Lopez-Ayala, J.M., Pastor-Quirante, F., Gonzalez-Carrillo, J., et al. Genetics of myocarditis in arrhythmogenic right ventricular dysplasia. Heart Rhythm 12 (2015), 766–773.
    • (2015) Heart Rhythm , vol.12 , pp. 766-773
    • Lopez-Ayala, J.M.1    Pastor-Quirante, F.2    Gonzalez-Carrillo, J.3
  • 20
    • 60649110875 scopus 로고    scopus 로고
    • Myocarditis in a patient with Duchenne muscular dystrophy detected by cardiovascular magnetic resonance and cardiac biopsy
    • 20 Mavrogeni, S., Papavassiliou, A., Cokkinos, D.V., Myocarditis in a patient with Duchenne muscular dystrophy detected by cardiovascular magnetic resonance and cardiac biopsy. Int J Cardiol 132 (2009), e123–e124.
    • (2009) Int J Cardiol , vol.132 , pp. e123-e124
    • Mavrogeni, S.1    Papavassiliou, A.2    Cokkinos, D.V.3
  • 21
    • 69549138124 scopus 로고    scopus 로고
    • A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • 21 van der Zwaag, P.A., Jongbloed, J.D., van den Berg, M.P., et al. A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy. Hum Mutat 30 (2009), 1278–1283.
    • (2009) Hum Mutat , vol.30 , pp. 1278-1283
    • van der Zwaag, P.A.1    Jongbloed, J.D.2    van den Berg, M.P.3
  • 22
    • 60949103027 scopus 로고    scopus 로고
    • Genetic evaluation of cardiomyopathy–a Heart Failure Society of America practice guideline
    • 22 Hershberger, R.E., Lindenfeld, J., Mestroni, L., et al. Genetic evaluation of cardiomyopathy–a Heart Failure Society of America practice guideline. J Card Fail 15 (2009), 83–97.
    • (2009) J Card Fail , vol.15 , pp. 83-97
    • Hershberger, R.E.1    Lindenfeld, J.2    Mestroni, L.3
  • 23
    • 84884591407 scopus 로고    scopus 로고
    • Genetic testing for inherited cardiac disease
    • 23 Wilde, A.A., Behr, E.R., Genetic testing for inherited cardiac disease. Nat Rev Cardiol 10 (2013), 571–583.
    • (2013) Nat Rev Cardiol , vol.10 , pp. 571-583
    • Wilde, A.A.1    Behr, E.R.2
  • 24
    • 84961309083 scopus 로고    scopus 로고
    • The mutation significance cutoff: gene-level thresholds for variant predictions
    • 24 Itan, Y., Shang, L., Boisson, B., et al. The mutation significance cutoff: gene-level thresholds for variant predictions. Nat Methods 13 (2016), 109–110.
    • (2016) Nat Methods , vol.13 , pp. 109-110
    • Itan, Y.1    Shang, L.2    Boisson, B.3
  • 25
    • 84895858942 scopus 로고    scopus 로고
    • A general framework for estimating the relative pathogenicity of human genetic variants
    • 25 Kircher, M., Witten, D.M., Jain, P., O'Roak, B.J., Cooper, G.M., Shendure, J., A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 46 (2014), 310–315.
    • (2014) Nat Genet , vol.46 , pp. 310-315
    • Kircher, M.1    Witten, D.M.2    Jain, P.3    O'Roak, B.J.4    Cooper, G.M.5    Shendure, J.6
  • 26
    • 84891837451 scopus 로고    scopus 로고
    • The human gene mutation database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
    • 26 Stenson, P.D., Mort, M., Ball, E.V., Shaw, K., Phillips, A., Cooper, D.N., The human gene mutation database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 133 (2014), 1–9.
    • (2014) Hum Genet , vol.133 , pp. 1-9
    • Stenson, P.D.1    Mort, M.2    Ball, E.V.3    Shaw, K.4    Phillips, A.5    Cooper, D.N.6
  • 28
    • 84945477620 scopus 로고    scopus 로고
    • Viral myocarditis—diagnosis, treatment options, and current controversies
    • 28 Pollack, A., Kontorovich, A.R., Fuster, V., Dec, G.W., Viral myocarditis—diagnosis, treatment options, and current controversies. Nat Rev Cardiol 12 (2015), 670–680.
    • (2015) Nat Rev Cardiol , vol.12 , pp. 670-680
    • Pollack, A.1    Kontorovich, A.R.2    Fuster, V.3    Dec, G.W.4
  • 29
    • 0033454751 scopus 로고    scopus 로고
    • Complications of endomyocardial biopsy in children
    • 29 Pophal, S.G., Sigfusson, G., Booth, K.L., et al. Complications of endomyocardial biopsy in children. J Am Coll Cardiol 34 (1999), 2105–2110.
    • (1999) J Am Coll Cardiol , vol.34 , pp. 2105-2110
    • Pophal, S.G.1    Sigfusson, G.2    Booth, K.L.3
  • 30
    • 0024419852 scopus 로고
    • Insensitivity of right ventricular endomyocardial biopsy in the diagnosis of myocarditis
    • 30 Chow, L.H., Radio, S.J., Sears, T.D., McManus, B.M., Insensitivity of right ventricular endomyocardial biopsy in the diagnosis of myocarditis. J Am Coll Cardiol 14 (1989), 915–920.
    • (1989) J Am Coll Cardiol , vol.14 , pp. 915-920
    • Chow, L.H.1    Radio, S.J.2    Sears, T.D.3    McManus, B.M.4
  • 32
    • 58049220178 scopus 로고    scopus 로고
    • Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2
    • 32 Neilson, D.E., Adams, M.D., Orr, C.M., et al. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet 84 (2009), 44–51.
    • (2009) Am J Hum Genet , vol.84 , pp. 44-51
    • Neilson, D.E.1    Adams, M.D.2    Orr, C.M.3
  • 33
    • 33947303335 scopus 로고    scopus 로고
    • Myocarditis in hypertrophic cardiomyopathy patients presenting acute clinical deterioration
    • 33 Frustaci, A., Verardo, R., Caldarulo, M., Acconcia, M.C., Russo, M.A., Chimenti, C., Myocarditis in hypertrophic cardiomyopathy patients presenting acute clinical deterioration. Eur Heart J 28 (2007), 733–740.
    • (2007) Eur Heart J , vol.28 , pp. 733-740
    • Frustaci, A.1    Verardo, R.2    Caldarulo, M.3    Acconcia, M.C.4    Russo, M.A.5    Chimenti, C.6
  • 35
    • 0037028908 scopus 로고    scopus 로고
    • The detection of cardiotropic viruses in the myocardium of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • 35 Bowles, N.E., Ni, J., Marcus, F., Towbin, J.A., The detection of cardiotropic viruses in the myocardium of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol 39 (2002), 892–895.
    • (2002) J Am Coll Cardiol , vol.39 , pp. 892-895
    • Bowles, N.E.1    Ni, J.2    Marcus, F.3    Towbin, J.A.4
  • 37
    • 79961040627 scopus 로고    scopus 로고
    • ATP-sensitive potassium channel (K(ATP))-dependent regulation of cardiotropic viral infections
    • 37 Eleftherianos, I., Won, S., Chtarbanova, S., et al. ATP-sensitive potassium channel (K(ATP))-dependent regulation of cardiotropic viral infections. Proc Natl Acad Sci U S A 108 (2011), 12024–12029.
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 12024-12029
    • Eleftherianos, I.1    Won, S.2    Chtarbanova, S.3
  • 38
    • 84890057058 scopus 로고    scopus 로고
    • Inhibition of Coxsackievirus–associated dystrophin cleavage prevents cardiomyopathy
    • 38 Lim, B.K., Peter, A.K., Xiong, D., et al. Inhibition of Coxsackievirus–associated dystrophin cleavage prevents cardiomyopathy. J Clin Invest 123 (2013), 5146–5151.
    • (2013) J Clin Invest , vol.123 , pp. 5146-5151
    • Lim, B.K.1    Peter, A.K.2    Xiong, D.3
  • 39
    • 0036344498 scopus 로고    scopus 로고
    • Dystrophin deficiency markedly increases enterovirus-induced cardiomyopathy: a genetic predisposition to viral heart disease
    • 39 Xiong, D., Lee, G.H., Badorff, C., et al. Dystrophin deficiency markedly increases enterovirus-induced cardiomyopathy: a genetic predisposition to viral heart disease. Nat Med 8 (2002), 872–877.
    • (2002) Nat Med , vol.8 , pp. 872-877
    • Xiong, D.1    Lee, G.H.2    Badorff, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.