Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest double-heterozygosity?

Netherlands Heart Journal

Volumn 17, Issue 12, 2009, Pages 458-463

  van Rijsingen, I A W ^a   Ast, J F Hermans Van ^a   Arens, Y H J M ^a   Schalla, S M ^a   de Die Smulders, C E M ^a   van den Wijngaard, A ^a   Pinto, Y M ^b  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Cardiomyopathy; Double heterozygous mutations; Genetics; Hypertrophic; ProBNP

Indexed keywords

EID: 77957112420     PISSN: 15685888     EISSN: 18766250     Source Type: Journal    
DOI: 10.1007/s12471-010-0003-2     Document Type: Article

References (33)

1. Maron BJ, Gardin JM, Flack JM, et al. Prevalence of hyper-trophic 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.
2. Maron BJ, Nichols PF, 3rd, Pickle LW, et al. Patterns of inheritance in hypertrophic cardiomyopathy: assessment by M-mode and two-dimensional echocardiography. Am J Cardiol 1984;53:1087-94.
3. Richard P, Charron P, Carrier L, et al. Hypertrophic cardiomyo-pathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003; 107:2227-32.
4. Van Driest SL, Ommen SR, Tajik AJ, et al. Sarcomeric genotyping in hypertrophic cardiomyopathy. Mayo Clinic Proc. 2005;80:463-9.
5. Van Driest SL, Jaeger MA, Ommen SR, 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.
6. Towbin JA. Molecular genetics of hypertrophic cardiomyopathy. Curr Cardiol Reports. 2000;2:134-40.
7. Geier C, Perrot A, Ozcelik C, et al. Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. Circulation. 2003;107:1390-5.
8. Ho CY, Seidman CE. A contemporary approach to hypertrophic cardiomyopathy. Circulation. 2006;113:e858-62.
9. Alders M, Jongbloed R, Deelen W, 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.
10. Maron BJ, Chaitman BR, Ackerman MJ, et al. Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. Circulation. 2004; 109:2807-16.
11. Nguyen L, Chung J, Lam L, et al. Abnormal cardiac response to exercise in a murine model of familial hypertrophic cardiomyo-pathy. Int J Cardiol. 2007;119:245-8.
12. Tsoutsman T, Bagnall RD, Semsarian C. Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure. Clin Exp Pharmacol Physiol. 2008;35:1349-57.
13. Ingles J, Doolan A, Chiu C, et al. Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. J Med Genet. 2005;42:e59.
14. van Langen IM, Arens Y, Baars H, et al. Concept Multidiscipli-naire richtlijn. Genetische diagnostiek en erfelijkheidsadvisering bij Hypertrofische Cardiomyopathie (HCM). Submitted 2009.
15. Michels M, Hoedemaekers YM, Kofflard MJ, et al. Familial screening and genetic counselling in hypertrophic cardiomyopathy: the Rotterdam experience. Neth Heart J. 2007;15:184-90.
16. Marian AJ. Modifier genes for hypertrophic cardiomyopathy. Curr Opin Cardiol. 2002;17:242-52.
17. Van Driest SL, Vasile VC, Ommen SR, et al. Myosin binding protein C mutations and compound heterozygosity in hyper-trophic cardiomyopathy. J Am Coll Cardiol. 2004;44:1903-10.
18. Alpert NR, Mohiddin SA, Tripodi D, et al. Molecular and pheno-typic effects of heterozygous, homozygous, and compound hetero-zygote myosin heavy-chain mutations. Am J Physiol. 2005;288: H1097-102.
19. Bos JM, Poley RN, Ny M, et al. Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. Mol Gen Metabol 2006;88:78-85.
20. Schiller NB, Shah PM, Crawford M, et al. Recommendations for quantitation of the left ventricle by two-dimensional echocar-diography. American Society of Echocardiography Committee on Standards, Subcommittee on Quantitation of Two-Dimensional Echocardiograms. J Am Soc Echocardiogr. 1989;2:358-67.
21. Gruver EJ, Fatkin D, Dodds GA, et al. Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation. Am J Cardiol. 1999;83: 13H-8H.
22. Greber-Platzer S, Marx M, Fleischmann C, et al. Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children. J Mol Cell Cardiol. 2001;33:141-8.
23. Song L, Zou Y, Wang J, et al. Mutations profile in Chinese patients with hypertrophic cardiomyopathy. Clin Chim Acta; Int J Clin Chem. 2005;351:209-16.
24. Sadoul N, Simon JP, de Chillou C, et al. Dual chamber pacemaker therapy in obstructive hypertrophic cardiomyopathy. Cir-culation. 1995;92:1062-4.
25. Bos JM, Theis JL, Tajik AJ, et al. Relationship between sex, shape, and substrate in hypertrophic cardiomyopathy. Am Heart J. 2008; 155:1128-34.
26. Knoll R, Hoshijima M, Hoffman HM, et al. The cardiac mech-anical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell. 2002;111:943-55.
27. Mohapatra B, Jimenez S, Lin JH, et al. Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. Mol Gen Metabol. 2003;80:207-15.
28. Tsoutsman T, Kelly M, Ng DC, et al. Severe heart failure and early mortality in a double-mutation mouse model of familial hypertrophic cardiomyopathy. Circulation. 2008;117:1820-31.
29. Magga J, Sipola P, Vuolteenaho O, et al. Significance of plasma levels of N-terminal Pro-B-type natriuretic peptide on left ventricular remodeling in non-obstructive hypertrophic cardiomyopathy attributable to the Asp175Asn mutation in the alpha-tropomyosin gene. Am J Cardiol. 2008;101:1185-90.
30. Hansen MW, Merchant N. MRI of hypertrophic cardiomyopathy: part I, MRI appearances. AJR Am J Roentgenol. 2007;189:1335-43.
31. Germans T, van Rossum AC. The use of cardiac magnetic resonance imaging to determine the aetiology of left ventricular disease and cardiomyopathy. Heart. 2008;94:510-8.
32. Moon JC, Mogensen J, Elliott PM, et al. Myocardial late gadoli-nium enhancement cardiovascular magnetic resonance in hyper-trophic cardiomyopathy caused by mutations in troponin I. Heart. 2005;91:1036-40.
33. Germans T, Wilde AA, Dijkmans PA, et al. Structural abnormalities of the inferoseptal left ventricular wall detected by cardiac magnetic resonance imaging in carriers of hypertrophic cardio-myopathy mutations. J Am Coll Cardiol. 2006;48:2518-23.s