Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy

Acta Cardiologica

Volumn 67, Issue 1, 2012, Pages 23-29

  Curila, Karol ^a   Benesova, Lucie ^b   Penicka, Martin ^a   Minarik, Marek ^b   Zemanek, David ^c   Veselka, Josef ^c   Widimsky, Petr ^a   Gregor, Pavel ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b Laboratory for Molecular Genetics and Oncology   (Czech Republic)

^c Faculty Hospital   (Czech Republic)

Author keywords

Gene; Hypertrophic cardiomyopathy; Mutation; Phenotype

Indexed keywords

MYOSIN BINDING PROTEIN C; MYOSIN BINDING PROTEIN C 3; MYOSIN HEAVY CHAIN BETA; MYOSIN HEAVY CHAIN BETA 7; TROPONIN I; TROPONIN I3; TROPONIN T; TROPONIN T2; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CLINICAL FEATURE; EXON; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; PHENOTYPE;

ADULT; AGED; CARDIOMYOPATHY, HYPERTROPHIC; HUMANS; MIDDLE AGED; MUTATION;

EID: 84857763633     PISSN: 00015385     EISSN: None     Source Type: Journal    
DOI: 10.2143/AC.67.1.2146562     Document Type: Article

References (19)

1. Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Circulation 1995; 92: 785-9.
2. Keren A, Syrris P, McKenna WJ. Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression. Nat Clin Pract Cardiovasc Med 2008; 5: 158-68.
3. Niimura H, Bachinski LL, Bjornsdottir H. Mutations in the gene for cardiac myosin-binding protein C and late onset familial hypertrophic cardiomyopathy. N Engl J Med 1998; 338: 1248-57.
4. Watkins H, McKenna WJ, Thierfelder L, Suk HJ, Anan R, O'Donoghue A, Spirito P, Matsumori A, Moravec CE, Seidman JG, Seidman CE. Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med 1995; 332: 1058-64.
5. Niimura H, Patton KK, McKenna WJ, Soults J, Maron BJ, Seidman JG, Seidman CE. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation 2002; 105: 446-51.
6. Ackerman MJ. Genetic testing for risk stratification in hypertrophic cardiomyopathy and long QT syndrome: fact or fiction? Curr Opin Cardiol 2005; 20: 175-81.
7. Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MR, Towbin JA. Genetic evaluation of cardiomyopathy-a Heart failure Society of American Practice Guideline. J Card Fail 2009; 15: 83-97.
8. Van Driest SL, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ. Sarcomeric genotyping in hypertrophic cardiomyopathy. Mayo Clin Proc 2005; 80: 463-9.
9. Curila K, Benesova L, Penicka M, Minarik M, Zemanek D, Veselka J, Widimsky P, Gregor P. Low prevalence and variable clinical presentation of Troponin I and Troponin T genes mutations in hypertrophic cardiomyopathy. Genet Test Mol Biomarkers 2009; 13: 647-50.
10. Song L, Zou Y, Wang J, Wang Z, Zhen Y, Lou K, Zhang Q, Wang X, Wang H, Li J, Hui R. Mutation profile in Chinese patients with hypertrophic cardiomyopathy. Clin Chim Acta 2005; 351: 209-16.
11. Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C. Compound and double mutation in hypertrophic cardiomyopathy patients: implication for genetic testing and councelling. J Med Genet 2005; 42: e59.
12. Garcia-Castro M, Coto E, Reguero JR, Berrazueta JR, Alvarez V, Alonso B, Sainz R, Martin R, Moris C. Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3 and TPM1 in patients with hypertrophic cardiomyopathy [in Spanish]. Rev Esp Cardiol 2009; 62: 48-56.
13. Erdmann J, Daehmlow S, Wischke S, Senyuva M, Werner U, Raible J, Tanis N, Dyachenko S, Hummel M, Hetzer R, Regitz-Zagrosek V. Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. Clin Genet 2003; 64: 339-49.
14. Maeda K, Nakamura S, Murakami CH, Kobayashi M, Irie W, Wada B, Hayashi M, Sasaki CH, Furukawa M, Kurihara K. Analysis of three major sarcomeric genes (MYH7, TNNT2, MYBPC3) in cardiomyopathy. Forensic Sci Int Genet, Supplement Series 2009; 2: 499-500.
15. 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: 2227-32.
16. Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik MJ, Gersh BJ, Ackerman MJ. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol 2004; 44: 1903-10.
17. Gregor P, Cerny M, Cervenka V, Visek V, Widimsky P. Hypertrophic cardiomyopathy [in Czech]. Praha: Scientia Medica 1992; 260: 56-60.
18. Penicka M, Gregor P, Kerekes R, Marek D, Curila K, Krupicka J. Candesartan use in Hypertrophic And Non-obstructive Cardiomyopathy Estate (CHANCE) Study Investigators. The effects of candesartan on left ventricular hypertrophy and function in nonobstructive hypertrophic cardiomyopathy: a pilot, randomized study. J Mol Diagn 2009; 11: 35-41.
19. Dausse E, Komajda M, Fetler L, Dubourg O, Dufour C, Carrier L, Wisnewsky C, Bercovici J, Hengstenberg C, Al-Mahdawi S. Familiar hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene. J Clin Invest 1993; 92: 2907-13.