The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: Focus on predictive screening

European Heart Journal

Volumn 31, Issue 7, 2010, Pages 842-848

  Christiaans, Imke ^a   Birnie, Erwin ^b   Van Langen, Irene M ^a   Van Spaendonck Zwarts, Karin Y ^c   Van Tintelen, J Peter ^c   Van Den Berg, Maarten P ^c,d   Atsma, Douwe E ^d,e   Helderman Van Den Enden, Apollonia T J M ^e,f   Pinto, Yigal M ^d,f   Hermans Van Ast, J F ^d   Bonsel, Gouke J ^b   Wilde, Arthur A M ^a,d  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d ROYAL NETHERLANDS ACADEMY OF ARTS AND SCIENCES   (Netherlands)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^f MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Genetic testing; Hypertrophic cardiomyopathy; Risk stratificationSudden cardiac death

Indexed keywords

MYOSIN BINDING PROTEIN C; CARRIER PROTEIN; MYOSIN-BINDING PROTEIN C;

ADULT; AGED; ARTICLE; FEMALE; GENE MUTATION; GENETIC SCREENING; HEART DEATH; HETEROZYGOTE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MALE; PREDICTION; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; SCREENING; SEX DIFFERENCE; SUDDEN DEATH; ADOLESCENT; ANALYSIS OF VARIANCE; CHILD; CLINICAL TRIAL; DEATH, SUDDEN, CARDIAC; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; GENETICS; INFANT; MIDDLE AGED; MULTICENTER STUDY; MUTATION; PENETRANCE; PRESCHOOL CHILD; VERY ELDERLY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ANALYSIS OF VARIANCE; CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DEATH, SUDDEN, CARDIAC; FEMALE; GENETIC TESTING; HETEROZYGOTE; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; PENETRANCE; RISK ASSESSMENT; RISK FACTORS; YOUNG ADULT;

EID: 77950521751     PISSN: 0195668X     EISSN: 15229645     Source Type: Journal    
DOI: 10.1093/eurheartj/ehp539     Document Type: Article

References (27)

1. Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocar-diographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation 1995;92:785-789.
2. Morita H, Larson MG, Barr SC, Vasan RS, O'Donnell CJ, Hirschhorn JN, Levy D, Corey D, Seidman CE, Seidman JG, Benjamin EJ. Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. Circulation 2006;113:2697-2705. (Pubitemid 43947987)
3. Klues HG, Schiffers A, Maron BJ. Phenotypic spectrum and patterns of left ventricular hypertrophy in hypertrophic cardiomyopathy: morphologic observations and significance as assessed by two-dimensional echocardiography in 600 patients. J Am Coll Cardiol 1995;26:1699-1708.
4. 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)
5. Cannan CR, Reeder GS, Bailey KR, Melton LJI, Gersh BJ. Natural history of hyper-trophic cardiomyopathy. A population-based study, 1976 through 1990. Circulation 1995;92:2488-2495.
6. 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.
7. 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)
8. 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. (Pubitemid 351771339)
9. 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)
10. 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.
11. 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)
12. 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)
13. 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.
14. 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)
15. Monserrat L, Elliott PM, Gimeno JR, Sharma S, Penas-Lado M, McKenna WJ. Non-sustained 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)
16. 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 hyper-trophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene. J Med Genet 2006;43:829-832. (Pubitemid 44654744)
17. 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)
18. Elliott PM, Poloniecki J, Dickie S, Sharma S, Monserrat L, Varnava A, Mahon NG, McKenna WJ. Sudden death in hypertrophic cardiomyopathy: identification of high risk patients. J Am Coll Cardiol 2000;36:2212-2218.
19. Kofflard MJ, ten Cate FJ, van der Lee C, van Domburg RT. Hypertrophic cardio-myopathy 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.
20. 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)
21. 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)
22. Maron BJ, Niimura H, Casey SA, Soper MK, Wright GB, Seidman JG, Seidman CE. Development of left ventricular hypertrophy in adults in hypertrophic cardiomyo-pathy caused by cardiac myosin-binding protein C gene mutations. J Am Coll Cardiol 2001;38:315-321. (Pubitemid 32721755)
23. 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 hyper-trophic cardiomyopathy. N Engl J Med 1998;338:1248-1257. (Pubitemid 28216578)
24. Mitra RL, Buxton AE. The clinical significance of nonsustained ventricular tachycardia. J Cardiovasc Electrophysiol 1993;4:490-496.
25. Deal BJ, Miller SM, Scagliotti D, Prechel D, Gallastegui JL, Hariman RJ. Ventricular tachycardia in a young population without overt heart disease. Circulation 1986;73: 1111-1118. (Pubitemid 16080522)
26. Watson G, Mechling E, Ewy GA. Clinical significance of early vs late hypotensive blood pressure response to treadmill exercise. Arch Intern Med 1992;152: 1005-1008.
27. Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ. Myosin binding protein C mutations and compound heterozygosity in hyper-trophic cardiomyopathy. J Am Coll Cardiol 2004;44:1903-1910.