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Volumn 13, Issue 6, 2011, Pages 298-300

Sudden death during exercise in a juvenile with arrhythmogenic right ventricular cardiomyopathy and desmoglein-2 gene substitution: A case report

Author keywords

Arrhythmia; Forensic pathology; Genetic disease; Sudden cardiac death

Indexed keywords

DESMOGLEIN 2;

EID: 80054868140     PISSN: 13446223     EISSN: 18734162     Source Type: Journal    
DOI: 10.1016/j.legalmed.2011.08.004     Document Type: Article
Times cited : (11)

References (18)
  • 2
    • 0242353624 scopus 로고    scopus 로고
    • Does sports activity enhance the risk of sudden death in adolescents and young adults?
    • Corrado D., Basso C., Rizzoli G., Schiavon M., Thiene G. Does sports activity enhance the risk of sudden death in adolescents and young adults?. J Am Coll Cardiol 2003, 42:1959-1963.
    • (2003) J Am Coll Cardiol , vol.42 , pp. 1959-1963
    • Corrado, D.1    Basso, C.2    Rizzoli, G.3    Schiavon, M.4    Thiene, G.5
  • 3
    • 33749367428 scopus 로고    scopus 로고
    • Trends in sudden cardiovascular death in young competitive athletes after implementation of a preparticipation screening program
    • Corrado D., Basso C., Pavei A., Michieli P., Schiavon M., Thiene G. Trends in sudden cardiovascular death in young competitive athletes after implementation of a preparticipation screening program. JAMA 2006, 196:1593-1601.
    • (2006) JAMA , vol.196 , pp. 1593-1601
    • Corrado, D.1    Basso, C.2    Pavei, A.3    Michieli, P.4    Schiavon, M.5    Thiene, G.6
  • 4
  • 5
    • 61349136209 scopus 로고    scopus 로고
    • Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a not so rare " disease of the desmosome" with multiple clinical presentations
    • Herren T., Gerber P.A., Duru F. Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a not so rare " disease of the desmosome" with multiple clinical presentations. Clin Res Cardiol 2009, 98:141-158.
    • (2009) Clin Res Cardiol , vol.98 , pp. 141-158
    • Herren, T.1    Gerber, P.A.2    Duru, F.3
  • 6
    • 0028347223 scopus 로고
    • Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology
    • McKenna W.J., Thiene G., Nava A., Fontaliran F., Blomstrom-Lundqvist C., Fontaine G., et al. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology. Br Heart J 1994, 71:215-218.
    • (1994) Br Heart J , vol.71 , pp. 215-218
    • McKenna, W.J.1    Thiene, G.2    Nava, A.3    Fontaliran, F.4    Blomstrom-Lundqvist, C.5    Fontaine, G.6
  • 7
    • 0034777048 scopus 로고    scopus 로고
    • Assessment of right ventricular lipomatosis by histomorphometry in control adult autopsy cases
    • Lorin de la Grandmaison G., Le Bihan C., Durigon M. Assessment of right ventricular lipomatosis by histomorphometry in control adult autopsy cases. Int J Legal Med 2001, 115:105-108.
    • (2001) Int J Legal Med , vol.115 , pp. 105-108
    • Lorin de la Grandmaison, G.1    Le Bihan, C.2    Durigon, M.3
  • 8
    • 33645527574 scopus 로고    scopus 로고
    • Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy
    • Pilichou K., Nava A., Basso C., Beffagna G., Bauce B., Lorenzon A., et al. Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation 2006, 113:1171-1179.
    • (2006) Circulation , vol.113 , pp. 1171-1179
    • Pilichou, K.1    Nava, A.2    Basso, C.3    Beffagna, G.4    Bauce, B.5    Lorenzon, A.6
  • 9
    • 34249657898 scopus 로고    scopus 로고
    • Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease
    • Syrris P., Ward D., Asimaki A., Evans A., SenChowdhry S., Hughes S.E., et al. Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease. Eur Heart J 2007, 28:581-588.
    • (2007) Eur Heart J , vol.28 , pp. 581-588
    • Syrris, P.1    Ward, D.2    Asimaki, A.3    Evans, A.4    SenChowdhry, S.5    Hughes, S.E.6
  • 10
    • 11444264507 scopus 로고    scopus 로고
    • Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy
    • Gerull B., Heuser A., Wichter T., Paul M., Basson C.T., McDermott D.A., et al. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet 2004, 36:1162-1164.
    • (2004) Nat Genet , vol.36 , pp. 1162-1164
    • Gerull, B.1    Heuser, A.2    Wichter, T.3    Paul, M.4    Basson, C.T.5    McDermott, D.A.6
  • 11
    • 18644363134 scopus 로고    scopus 로고
    • Mutations in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy
    • Rampazzo A., Nava A., Malacrida S., Beffagna G., Bauce B., Rossi V., et al. Mutations in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 2002, 71:1200-1206.
    • (2002) Am J Hum Genet , vol.71 , pp. 1200-1206
    • Rampazzo, A.1    Nava, A.2    Malacrida, S.3    Beffagna, G.4    Bauce, B.5    Rossi, V.6
  • 12
    • 33745231792 scopus 로고    scopus 로고
    • DSG2 mutations contribute arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • Awad M.M., Dalal D., Cho E., Amat-Alarcon N., James C., Tichnell C., et al. DSG2 mutations contribute arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Hum Genet 2006, 79:136-142.
    • (2006) Am J Hum Genet , vol.79 , pp. 136-142
    • Awad, M.M.1    Dalal, D.2    Cho, E.3    Amat-Alarcon, N.4    James, C.5    Tichnell, C.6
  • 13
    • 0035499026 scopus 로고    scopus 로고
    • Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin
    • Protonotarios N., Tsatsopoulou A., Anastasakis A., Sevdalis E., McKoy G., Stratos K., et al. Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. J Am Coll Cardiol 2001, 38:1477-1484.
    • (2001) J Am Coll Cardiol , vol.38 , pp. 1477-1484
    • Protonotarios, N.1    Tsatsopoulou, A.2    Anastasakis, A.3    Sevdalis, E.4    McKoy, G.5    Stratos, K.6
  • 14
    • 34147208940 scopus 로고    scopus 로고
    • Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2
    • Awad M.M., Dalal D., Tichnell C., James C., Tucker A., Abraham T., et al. Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2. Hum Mutat 2006, 27:1157.
    • (2006) Hum Mutat , vol.27 , pp. 1157
    • Awad, M.M.1    Dalal, D.2    Tichnell, C.3    James, C.4    Tucker, A.5    Abraham, T.6
  • 15
    • 33750571687 scopus 로고    scopus 로고
    • Postmortem molecular screening for cardiac ryanodine receptor type 2 mutations in sudden unexplained death: R420W mutated case with characteristics of status thymico-lymphaticus
    • Nishio H., Iwata M., Suzuki K. Postmortem molecular screening for cardiac ryanodine receptor type 2 mutations in sudden unexplained death: R420W mutated case with characteristics of status thymico-lymphaticus. Circ J 2006, 70:1402-1406.
    • (2006) Circ J , vol.70 , pp. 1402-1406
    • Nishio, H.1    Iwata, M.2    Suzuki, K.3
  • 16
    • 43049157526 scopus 로고    scopus 로고
    • Identification of a novel mutation V2321M of the cardiac ryanodine receptor gene of sudden unexplained death and a phenotypic study of the gene mutations
    • Nishio H., Iwata M., Tamura A., Miyazaki T., Tsuboi K., Suzuki K. Identification of a novel mutation V2321M of the cardiac ryanodine receptor gene of sudden unexplained death and a phenotypic study of the gene mutations. Leg Med 2008, 10:196-200.
    • (2008) Leg Med , vol.10 , pp. 196-200
    • Nishio, H.1    Iwata, M.2    Tamura, A.3    Miyazaki, T.4    Tsuboi, K.5    Suzuki, K.6
  • 17
    • 67349207403 scopus 로고    scopus 로고
    • Identification of an ethnic-specific variant (V207M) of the KCNQ1 cardiac potassium channel gene in sudden unexplained death and implications from a knock-in mouse model
    • Nishio H., Kuwahara M., Tsubone H., Koda Y., Sato T., Fukunishi S., et al. Identification of an ethnic-specific variant (V207M) of the KCNQ1 cardiac potassium channel gene in sudden unexplained death and implications from a knock-in mouse model. Int J Legal Med 2009, 123:253-257.
    • (2009) Int J Legal Med , vol.123 , pp. 253-257
    • Nishio, H.1    Kuwahara, M.2    Tsubone, H.3    Koda, Y.4    Sato, T.5    Fukunishi, S.6
  • 18
    • 77957277694 scopus 로고    scopus 로고
    • Analysis of the sarcomere protein gene mutation on cardiomyopathy - Mutations in the cardiac troponin I gene
    • Murakami C., Nakamura S., Kobayashi M., Maeda K., Irie W., Wada B., et al. Analysis of the sarcomere protein gene mutation on cardiomyopathy - Mutations in the cardiac troponin I gene. Leg Med 2010, 12:280-283.
    • (2010) Leg Med , vol.12 , pp. 280-283
    • Murakami, C.1    Nakamura, S.2    Kobayashi, M.3    Maeda, K.4    Irie, W.5    Wada, B.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.