Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: Determining the best cardiological screening strategy

European Heart Journal

Volumn 32, Issue 9, 2011, Pages 1161-1170

  Christiaans, Imke ^a   Birnie, Erwin ^b   Bonsel, Gouke J ^b   Mannens, Marcel M A M ^a   Michels, Michelle ^b   Majoor Krakauer, Daniëlle ^b   Dooijes, Dennis ^b   Van Tintelen, J Peter ^c   Van Den Berg, Maarten P ^c   Volders, Paul G A ^d   Arens, Yvonne H ^d   Van DenWijngaard, Arthur ^d   Atsma, Douwe E ^e   Helderman Van Den Enden, Apollonia T J M ^d,e   Houweling, Arjan C ^a   De Boer, Karin ^a   Van Der Smagt, Jasper J ^f   Hauer, Richard N W ^f   Marcelis, Carlo L M ^g   Timmermans, Janneke ^g   Van Langen, Irene M ^a,c   Wilde, Arthur A M ^a   more..

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Genetic; Hypertrophic cardiomyopathy; Risk stratification; Sudden cardiac death

Indexed keywords

ADULT; AGED; ARTICLE; DNA DETERMINATION; FOLLOW UP; GENE MUTATION; GENETIC ASSOCIATION; GROUPS BY AGE; HETEROZYGOTE; HIGH RISK PATIENT; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MALE; OUTCOME ASSESSMENT; PENETRANCE; PREDICTOR VARIABLE; PRIORITY JOURNAL; RISK FACTOR; SCREENING TEST; SUDDEN DEATH; AGE; CLINICAL TRIAL; EARLY DIAGNOSIS; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; FEMALE; GENETIC SCREENING; GENETICS; KAPLAN MEIER METHOD; MIDDLE AGED; MORTALITY; MULTICENTER STUDY; MUTATION; NETHERLANDS; PEDIGREE; SEX DIFFERENCE;

ADULT; AGE FACTORS; AGED; CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; DEATH, SUDDEN, CARDIAC; EARLY DIAGNOSIS; FEMALE; GENETIC TESTING; HETEROZYGOTE; HUMANS; KAPLAN-MEIER ESTIMATE; MALE; MIDDLE AGED; MUTATION; NETHERLANDS; PEDIGREE; RISK FACTORS; SEX FACTORS;

EID: 81855209569     PISSN: 0195668X     EISSN: 15229645     Source Type: Journal    
DOI: 10.1093/eurheartj/ehr092     Document Type: Article

References (31)

1. Maron BJ, McKenna WJ, Danielson GK, Kappenberger LJ, Kuhn HJ, Seidman CE, Shah PM, Spencer WH III, Spirito P, Ten Cate FJ, Wigle ED. 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 2003;42:1687-1713. (Pubitemid 37383745)
2. Cannan CR, Reeder GS, Bailey KR, Melton LJI, Gersh BJ. Natural history of hypertrophic cardiomyopathy. A population-based study, 1976 through 1990. Circulation 1995;92:2488-2495.
3. Maron BJ, Olivotto I, Spirito P, Casey SA, Bellone P, Gohman TE, Graham KJ, Burton DA, Cecchi F. Epidemiology of hypertrophic cardiomyopathy-related death: revisited in a large non-referral-based patient population. Circulation 2000;102:858-864.
4. Epstein AE, Dimarco JP, Ellenbogen KA, Estes NA III, Freedman RA, Gettes LS, Gillinov AM, Gregoratos G, Hammill SC, Hayes DL, Hlatky MA, Newby LK, Page RL, Schoenfeld MH, Silka MJ, Stevenson LW, Sweeney MO. ACC/AHA/ HRS 2008 Guidelines for Device-Based Therapy of Cardiac Rhythm Abnormalities: Executive Summary. A Report of the American College of Cardiology/ American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices). Circulation 2008;117: e350-e408.
5. Maron BJ, Spirito P, Shen WK, 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. Implantable cardioverter-defibrillators and prevention of sudden cardiac death in hypertrophic cardiomyopathy. JAMA 2007;298:405-412. (Pubitemid 47124061)
6. Zipes DP, Camm AJ, Borggrefe M, Buxton AE, Chaitman B, Fromer M, Gregoratos G, Klein G, Moss AJ, Myerburg RJ, Priori SG, Quinones MA, Roden DM, Silka MJ, Tracy C, Smith SC Jr, Jacobs AK, Adams CD, Antman EM, Anderson JL, Hunt SA, Halperin JL, Nishimura R, Ornato JP, Page RL, Riegel B, Blanc JJ, Budaj A, Dean V, Deckers JW, Despres C, Dickstein K, Lekakis J, McGregor K, Metra M, Morais J, Osterspey A, Tamargo JL, Zamorano JL. ACC/ AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (Writing Committee to Develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death): developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society. Circulation 2006;114:e385-e484. (Pubitemid 44362500)
7. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003;107:2227-2232. (Pubitemid 36547217)
8. Charron P, Carrier L, Dubourg O, Tesson F, Desnos M, Richard P, Bonne G, Guicheney P, Hainque B, Bouhour JB, Mallet A, Feingold J, Schwartz K, Komajda M. Penetrance of familial hypertrophic cardiomyopathy. Genet Couns 1997;8:107-114. (Pubitemid 27273731)
9. Christiaans I, Birnie E, van Langen IM, van Spaendonck-Zwarts KY, van Tintelen JP, van den Berg MP, Atsma DE, Helderman-van den Enden ATJM, Pinto YM, Hermans-van Ast JF, Bonsel GJ, Wilde AAM. The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening. Eur Heart J 2010;31: 842-848.
10. Maron BJ, Niimura H, Casey SA, Soper MK, Wright GB, Seidman JG, Seidman CE. Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations. J Am Coll Cardiol 2001;38:315-321. (Pubitemid 32721755)
11. Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Chudley AE, McKenna W, Kristinsson A, Roberts R, Sole M, Maron BJ, Seidman JG, Seidman CE. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med 1998;338:1248-1257. (Pubitemid 28216578)
12. Olivotto I, Maron MS, Adabag AS, Casey SA, Vargiu D, Link MS, Udelson JE, Cecchi F, Maron BJ. Gender-related differences in the clinical presentation and outcome of hypertrophic cardiomyopathy. J Am Coll Cardiol 2005;46:480-487. (Pubitemid 41040290)
13. Lekanne Deprez RH, Muurling-Vlietman JJ, Hruda J, Baars MJ, Wijnaendts LC, Stolte-Dijkstra I, Alders M, van Hagen JM. Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene. J Med Genet 2006;43:829-832. (Pubitemid 44654744)
14. Christiaans I, Birnie E, Bonsel GJ, Wilde AAM, van Langen IM. Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy. Eur J Hum Genet 2008;16:1201-1207.
15. McKenna WJ, Spirito P, Desnos M, Dubourg O, Komajda M. Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families. Heart 1997;77:130-132. (Pubitemid 27115795)
16. Elliott PM, Gimeno Blanes JR, Mahon NG, Poloniecki JD, McKenna WJ. Relation between severity of left-ventricular hypertrophy and prognosis in patients with hypertrophic cardiomyopathy. Lancet 2001;357:420-424. (Pubitemid 32156140)
17. Elliott PM, Gimeno JR, Tome MT, Shah J, Ward D, Thaman R, Mogensen J, McKenna WJ. Left ventricular outflow tract obstruction and sudden death risk in patients with hypertrophic cardiomyopathy. Eur Heart J 2006;27:1933-1941. (Pubitemid 44297366)
18. Monserrat L, Elliott PM, Gimeno JR, Sharma S, Penas-Lado M, McKenna WJ. Nonsustained ventricular tachycardia in hypertrophic cardiomyopathy: an independent marker of sudden death risk in young patients. J Am Coll Cardiol 2003;42: 873-879. (Pubitemid 37059747)
19. Michels M, Soliman OI, Phefferkorn J, Hoedemaekers YM, Kofflard MJ, Dooijes D, Majoor-Krakauer D, Ten Cate FJ. Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers. Eur Heart J 2009;30:2593-2598.
20. Christiaans I, van Langen IM, Birnie E, Bonsel GJ, Wilde AA, Smets EM. Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers: the patients' perspective. Am J Med Genet A 2009;149A: 1444-1451.
21. Christiaans I, Deprez RHLD, van Langen IM, Wilde AAM. Ventricular fibrillation in MYH7-related hypertrophic cardiomyopathy before onset of ventricular hypertrophy. Heart Rhythm 2009;6:1366-1369.
22. Alders M, Jongbloed R, Deelen W, van den Wijngaard A, Doevendans P, ten Cate F, Regitz-Zagrosek V, Vosberg HP, van Langen I, Wilde A, Dooijes D, Mannens M. The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. Eur Heart J 2003;24:1848-1853. (Pubitemid 37280251)
23. Christiaans I, Nannenberg EA, Dooijes D, Jongbloed RJ, Michels M, Postema PG, Majoor-Krakauer D, van den WA, Mannens MM, van Tintelen JP, van LI, Wilde AA. Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. Neth Heart J 2010;18:248-254.
24. Andersen PS, Havndrup O, Bundgaard H, Larsen LA, Vuust J, Pedersen AK, Kjeldsen K, Christiansen M. Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency. Eur J Hum Genet 2004;12: 673-677. (Pubitemid 39172430)
25. Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol 2004;44:1903-1910. (Pubitemid 39424094)
26. Alcalai R, Seidman JG, Seidman CE. Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics. J Cardiovasc Electrophysiol 2008;19:104-110.
27. Bos JM, Towbin JA, Ackerman MJ. Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy. J Am Coll Cardiol 2009; 54:201-211.
28. Biagini E, Coccolo F, Ferlito M, Perugini E, Rocchi G, Bacchi-Reggiani L, Lofiego C, Boriani G, Prandstraller D, Picchio FM, Branzi A, Rapezzi C. Dilated-hypokinetic evolution of hypertrophic cardiomyopathy: prevalence, incidence, risk factors, and prognostic implications in pediatric and adult patients. J Am Coll Cardiol 2005;46:1543-1550. (Pubitemid 41446193)
29. Kofflard MJ, Ten Cate FJ, van der Lee C, van Domburg RT. Hypertrophic cardiomyopathy in a large community-based population: clinical outcome and identification of risk factors for sudden cardiac death and clinical deterioration. J Am Coll Cardiol 2003;41:987-993. (Pubitemid 36315542)
30. Charron P, Arad M, Arbustini E, Basso C, Bilinska Z, Elliott P, Helio T, Keren A, McKenna WJ, Monserrat L, Pankuweit S, Perrot A, Rapezzi C, Ristic A, Seggewiss H, van LI, Tavazzi L. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2010;31:2715-2726.
31. Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MR, Towbin JA. Genetic evaluation of cardiomyopathy-a Heart Failure Society of America practice guideline. J Card Fail 2009;15:83-97.