Sporadic arrhythmogenic right ventricular cardiomyopathy/dysplasia due to a de novo mutation

Europace

Volumn 11, Issue 3, 2009, Pages 379-381

  Gandjbakhch, Estelle ^a,b   Fressart, Véronique ^a   Bertaux, Géraldine ^c   Faivre, Laurence ^c   Simon, Françoise ^a   Frank, Robert ^a   Fontaine, Guy ^a   Villard, Eric ^b   Coirault, Catherine ^a   Hainque, Bernard ^a   Charron, Philippe ^a,b  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b INSERM   (France)

^c DIJON UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DESMOGLEIN 2;

ADULT; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; ELECTROCARDIOGRAM; GENE MUTATION; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL;

ADULT; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; DESMOGLEIN 2; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION;

EID: 61649117930     PISSN: 10995129     EISSN: 15322092     Source Type: Journal    
DOI: 10.1093/europace/eun378     Document Type: Article

References (5)

1. McKenna WJ, 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;71:215-8.
2. Awad MM, Calkins H, Judge DP. Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Nat Clin Pract Cardiovasc Med 2008;5:258-67.
3. Awad MM, Dalal D, Cho E, Amat-Alarcon N, James C, Tichnell C et al. DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Hum Genet 2006;79:136-42.
4. Hamid MS, Norman M, Quraishi A, Firoozi S, Thaman R, Gimeno JR et al. Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria. J Am Coll Cardiol 2002;40:1445-50.
5. Charron P. Clinical genetics in cardiology. Heart 2006;92:1172-6.