Hypertrophic cardiomyopathy: From diagnosis to prevention;Hypertrofische cardiomyopathie: Van diagnostiek naar preventie

Nederlands Tijdschrift voor Geneeskunde

Volumn 147, Issue 24, 2003, Pages 1181-1184

  Hassink, R J ^a,b   Grosfeld, M J ^a   Marcelis, C ^a   Delhaas, T ^a   Doevendans, P A F M ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b HUBRECHT INSTITUTE   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; DECISION MAKING; DEFIBRILLATION; DNA SCREENING; ETHICS; GENE MUTATION; GENETIC ANALYSIS; HEART ARREST; HEART ARRHYTHMIA; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MALE; PATIENT SATISFACTION;

ADULT; ARRHYTHMIA; CARDIOMYOPATHY, HYPERTROPHIC; CHILD, PRESCHOOL; DEFIBRILLATORS, IMPLANTABLE; GENETIC SCREENING; HUMANS; MALE; MIDDLE AGED; MUTATION;

EID: 0038305804     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. Dockum WG van, Doevendans PAFM, Rossum AC van, Wilde AAM. Hypertrofische cardiomyopathie: een genetisch overdraagbare hartziekte. Ned Tijdschr Geneeskd 2002;146:705-12.
2. Doevendans PAFM. Molecular genetics of human cardiomyopathies. In: Peters R, Piek J, editors. Molecular cardiology in clinical perspective. Amsterdam: Knoll; 1997. P. 33-53.
3. Hoffmann B, Schmidt-Traub H, Perrot A, Osterziel KJ, Gessner R. First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. Hum Mutat 2001;17:524.
4. Jongbloed RJ, Marcelis CL, Doevendans PAFM, Schmeitz-Mulkens JM, Dockum WG van, Geraedts JP, et al. Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPMI) gene in familial hypertrophic cardiomyopathy. J Am Coll Cardiol 2003;41:994-6.
5. Carrier L. Hypertrophic cardiomyopathy. In: Doevendans PAFM, Wilde AAM, editors. Cardiovascular genetics for clinicians. Dordrecht: Kluwer; 2002. p. 139-54.
6. Bonne G, Carrier L, Richard P, Hainque B, Schwartz K. Familial hypertrophic cardiomyopathy: from mutations to functional defects. Circ Res 1998;83:580-93.
7. Seidman JG, Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 2001;104:557-67.
8. Semsarian C, Ahmad I, Giewat M, Georgakopoulos D, Schmitt JJ, McConnell BK, et al. The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model. J Clin Invest 2002;109:1013-20.
9. Doevendans PAFM. Hypertrophic cardiomyopathy: do we have the algorithm for life and death? Circulation 2000;101:1224-6.