Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers: The patients' perspective

American Journal of Medical Genetics, Part A

Volumn 149, Issue 7, 2009, Pages 1444-1451

  Christiaans, Imke ^a   Van Langen, Irene M ^a   Birnie, Erwin ^b   Bonsel, Gouke J ^b   Wilde, Arthur A M ^a   Smets, Ellen M A ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Cardiac screening; Cardiogenetic; Genetic counseling; Genetic services; Hypertrophic cardiomyopathy; Predictive testing

Indexed keywords

DNA;

ADULT; ANTICIPATION; ARTICLE; CROSS-SECTIONAL STUDY; DNA DETERMINATION; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC COUNSELING; HETEROZYGOTE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFORMATION DISSEMINATION; INTERPERSONAL COMMUNICATION; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PATIENT ATTITUDE; PATIENT CARE; PATIENT INFORMATION; PATIENT SATISFACTION; POSTAL MAIL; PRACTICE GUIDELINE; PREDICTION; PRIORITY JOURNAL; QUESTIONNAIRE; REASSURANCE; SEX DIFFERENCE; SOCIAL PROBLEM; TELEPHONE;

ADULT; CARDIOMYOPATHY, HYPERTROPHIC; CROSS-SECTIONAL STUDIES; FEMALE; FOLLOW-UP STUDIES; GENETIC COUNSELING; GENETIC SCREENING; GUIDELINES AS TOPIC; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PROGNOSIS; QUESTIONNAIRES;

EID: 67649869864     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32915     Document Type: Article

References (10)

1. Christiaans I, Birnie E, Bonsel GJ, Wilde AAM, van Langen IM. 2008. Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy. Eur J Hum Genet 16:1201-1207.
2. Elliott PM, Gimeno JR, Thaman R, Shah J, Ward D, Dickie S, Tome MT, McKenna WJ. 2006. Historical trends in reported survival rates in patients with hypertrophic cardiomyopathy. Heart 92:785-791. (Pubitemid 43799212)
3. Maron BJ. 2002. Hypertrophic cardiomyopathy: A systematic review. JAMA 287:1308-1320. (Pubitemid 34250486)
4. Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. 1995. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation 92:785-789.
5. Maron BJ, McKenna WJ, Danielson GK, Kappenberger LJ, Kuhn HJ, Seidman CE, Shah PM, Spencer WH III, Spirito P, Ten Cate FJ, Wigle ED. 2003. American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. J Am Coll Cardiol 42:1687-1713.
6. Maron BJ, Spirito P, ShenWK,Haas TS, Formisano F, Link MS, Epstein AE, Almquist AK, Daubert JP, Lawrenz T, Boriani G, Estes NAM, Favale S, Piccininno M, Winters SL, Santini M, Betocchi S, Arribas F, Sherrid MV, Buja G, Semsarian C, Bruzzi P. 2007. Implantable cardioverter-defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy. JAMA 298:405-412. (Pubitemid 47124061)
7. Morita H, Larson MG, Barr SC, Vasan RS, O'Donnell CJ, Hirschhorn JN, Levy D, Corey D, Seidman CE, Seidman JG, Benjamin EJ. 2006. Single -gene mutations and increased left ventricular wall thickness in the community: The Framingham Heart Study. Circulation 113: 2697-2705. (Pubitemid 43947987)
8. Payne K, Nicholls S, McAllister M, MacLeod R, Donnai D, Davies LM. 2008. Outcome measurement in clinical genetics services: A systematic review of validated measures. Value Health 11:497-508. (Pubitemid 351712973)
9. Stiggelbout AM, de Haes JCJM, Vree R, van de Velde CJH, Bruijninckx CMA, van Groningen K, Kievit J. 1997. Follow-up of colorectal cancer patients: Quality of life and attitudes towards follow-up. Br J Cancer 75:914-920. (Pubitemid 27110711)
10. van Langen IM, Hofman N, Tan HL, Wilde AA. 2004. Family and population strategies for screening and counselling of inherited cardiac arrhythmias. Ann Med 36:116-124. (Pubitemid 38669933)