Familial screening and genetic counselling in hypertrophic cardiomyopathy: The Rotterdam experience

Netherlands Heart Journal

Volumn 15, Issue 5, 2007, Pages 184-190

  Michels, M ^a   Hoedemaekers, Y M ^a   Kofflard, M J ^b   Frohn Mulder, I ^a   Dooijes, D ^a   Majoor Krakauer, D ^a   Ten Cate, F J ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b ALBERT SCHWEITZER HOSPITAL   (Netherlands)

Author keywords

Genetics; Hypertrophic cardiomyopathy

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CALCIUM CHANNEL BLOCKING AGENT; DISOPYRAMIDE;

CARDIOVASCULAR RISK; ECHOCARDIOGRAPHY; GENE IDENTIFICATION; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE; HEART LEFT VENTRICLE HYPERTROPHY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; PHENOTYPE; REVIEW;

EID: 34547893062     PISSN: 15685888     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03085978     Document Type: Review

References (42)

1. Zou Y, Song L, Wang Z, Ma A, Liu T, Gu H, et al. Prevalence of idiopathic hypertrophic cardiomyopathy in China: a population-based echocardiographic analysis of 8080 adults. Am J Med 2004;116:14-8.
2. Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. 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 1995;92:785-9.
3. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003;107:2227-32.
4. Van Driest SL, Ellsworth EG, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ. Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. Circulation 2003;108:445-51.
5. Geisterfer-Lowrance AA, Kass S, Tanigawa G, Vosberg HP, McKenna W, Seidman CE, et al. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell 1990;62:999-1006.
6. Maron BJ, Roberts WC, McAllister HA, Rosing DR, Epstein SE. Sudden death in young athletes. Circulation 1980;62:218-29.
7. Van Driest SL, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ. Sarcomeric genotyping in hypertrophic cardiomyopathy. Mayo Clin Proc 2005;80:463-9.
8. Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, et al. Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 2004;44:602-10.
9. Niimura H, Patton KK, McKenna WJ, Soults J, Maron BJ, Seidman JG, et al. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation 2002;105:446-51.
10. Alders M, Jongbloed R, Deelen W, van den Wijngaard A, Doevendans P, Ten Cate F, et al. 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;24:1848-53.
11. Lekanne Deprez RH, Muurling-Vlietman JJ, Hruda J, Baars MJ, Wijnaendts LC, Stolte-Dijkstra I, et al. Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene. J Med Genet 2006;43:829-32.
12. Van Driest SL, Ackerman MJ, Ommen SR, Shakur R, Will ML, Nishimura RA, et al. Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy. Circulation 2002; 106:3085-90.
13. Watkins H, Rosenzweig A, Hwang DS, Levi T, McKenna W, Seidman CE, et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med 1992;326:1108- 14.
14. Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, et al. Contemporary Definitions and Classification of the Cardiomyopathies: An American Heart Association Scientific Statement From the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation 2006;113:1807-16.
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;77:130-2.
16. Maron BJ, Seidman JG, Seidman CE. Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy. J Am Coll Cardiol 2004;44:2125-32.
17. Ho CY, Seidman CE. A contemporary approach to hypertrophic cardiomyopathy. Circulation 2006;113:e858-62.
18. Ryan MP, French J, al-Mahdawi S, Nihoyannopoulos P, Cleland JG, Oakley CM, et al. Genetic testing for familial hypertrophic cardiomyopathy in newborn infants. BMJ 1995;310:856-9.
19. Clarke A, Harper P. Genetic testing for hypertrophic cardiomyopathy. N Engl J Med 1992;327:1175-6.
20. Burson CM, Markey KR. Genetic counseling issues in predictive genetic testing for familial adult-onset neurologic diseases. Semin Pediatr Neurol 2001;8:177-86.
21. Kubo T, Kitaoka H, Okawa M, Matsumura Y, Hitomi N, Yamasaki N, et al. Lifelong left ventricular remodeling of hypertrophic cardiomyopathy caused by a founder frameshift deletion mutation in the cardiac Myosin-binding protein C gene among Japanese. J Am Coll Cardiol 2005;46:1737-43.
22. Doolan A, Tebo M, Ingles J, Nguyen L, Tsoutsman T, Lam L, et al. Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. J Mol Cell Cardiol 2005;38:387-93.
23. Brito D, Richard P, Isnard R, Pipa J, Komajda M, Madeira H. Familial hypertrophic cardiomyopathy: the same mutation, different prognosis. Comparison of two families with a long follow-up. Rev Port Cardiol 2003;22:1445-61.
24. Nagueh SF, McFalls J, Meyer D, Hill R, Zoghbi WA, Tam JW, et al. Tissue Doppler imaging predicts the development of hypertrophic cardiomyopathy in subjects with subclinical disease. Circulation 2003;108:395-8.
25. Maron BJ, Chaitman BR, Ackerman MJ, Bayes de Luna A, Corrado D, Crosson JE, et al. Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. Circulation 2004;109:2807-16.
26. Maron BJ, Ackerman MJ, Nishimura RA, Pyeritz RE, Towbin JA, Udelson JE. Task Force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and Marfan syndrome. J Am Coll Cardiol 2005;45:1340- 5.
27. Lee van der C, Kofflard MJ, Geleijnse M, Ten Cate F. Hypertrophic cardiomyopathy in daily practice: an introduction on diagnosis, prognosis and treatment. Neth Heart J 2005;13:452-60.
28. 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;41:987-93.
29. Pokorski RJ. Hypertrophic cardiomyopathy: risk factors for life and living benefits insurance. J Insurance Med 2002;34:43-60.
30. Westermann D, Knollmann BC, Steendijk P, Rutschow S, Riad A, Pauschinger M, et al. Diltiazem treatment prevents diastolic heart failure in mice with familial hypertrophic cardiomyopathy. Eur J Heart Fail 2006;8:115-21.
31. Senthil V, Chen SN, Tsybouleva N, Halder T, Nagueh SF, Willerson JT, et al. Prevention of cardiac hypertrophy by atorvastatin in a transgenic rabbit model of human hypertrophic cardiomyopathy. Circ Res 2005;97:285- 92.
32. Araujo AQ, Arteaga E, Ianni BM, Buck PC, Rabello R, Mady C. Effect of Losartan on left ventricular diastolic function in patients with nonobstructive hypertrophic cardiomyopathy. Am J Cardiol 2005;96:1563-7.
33. Deinum J, van Gool JM, Kofflard MJ, ten Cate FJ, Danser AH. Angiotensin II type 2 receptors and cardiac hypertrophy in women with hypertrophic cardiomyopathy. Hypertension 2001;38:1278-81.
34. Michels MKM, Ten Cate FJ, et al. Renin-Angiotensin-Aldosteron System (RAAS) gene polymorfisms influence the long-term alterations in cardiac hypertrophy in hypertrophic cardiomyopathy. Scientific Sessions 2006, Chicago.
35. Osterop AP, Kofflard MJ, Sandkuijl LA, ten Cate FJ, Krams R, Schalekamp MA, et al. AT1 receptor A/C1166 polymorphism contributes to cardiac hypertrophy in subjects with hypertrophic cardiomyopathy. Hypertension 1998;32:825-30.
36. Maron BJ, McKenna WJ, Danielson GK, Kappenberger LJ, Kuhn HJ, Seidman CE, et al. 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;42:1687-713.
37. Sherrid MV, Barac I, McKenna WJ, Elliott PM, Dickie S, Chojnowska L, et al. Multicenter study of the efficacy and safety of disopyramide in obstructive hypertrophic cardiomyopathy. J Am Coll Cardiol 2005;45:1251-8.
38. Elliott PM, Poloniecki J, Dickie S, Sharma S, Monserrat L, Varnava A, et al. Sudden death in hypertrophic cardiomyopathy: identification of high risk patients. J Am Coll Cardiol 2000;36:2212-8.
39. Elliott PM, Gimeno JR, Tome MT, Shah J, Ward D, Thaman R, et al. Left ventricular outflow tract obstruction and sudden death risk in patients with hypertrophic cardiomyopathy. Eur Heart J 2006;27:1933-41.
40. McKenna WJ, Franklin RC, Nihoyannopoulos P, Robinson KC, Deanfield JE. Arrhythmia and prognosis in infants, children and adolescents with hypertrophic cardiomyopathy. J Am Coll Cardiol 1988;11:147-53.
41. Maron BJ, Shen WK, Link MS, Epstein AE, Almquist AK, Daubert JP, et al. Efficacy of implantable cardioverter-defibrillators for the prevention of sudden death in patients with hypertrophic cardiomyopathy. N Engl J Med 2000;342:365-73.
42. Almquist AK, Montgomery JV, Haas TS, Maron BJ. Cardioverter-defibrillator implantation in high-risk patients with hypertrophic cardiomyopathy. Heart Rhythm 2005;2:814-9.