Genetics of cardiomyopathy and channelopathy

Heart and Metabolism

Volumn , Issue 41, 2008, Pages 5-10

  Bezzina, Connie R ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Arrhythmia; Cardiomyopathy; Channelopathy; Mutation; Sudden cardiac death

Indexed keywords

BRUGADA SYNDROME; CARDIOMYOPATHY; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; CHANNELOPATHY; CONGESTIVE CARDIOMYOPATHY; GENE EXPRESSION; GENETIC LINKAGE; HEART RIGHT VENTRICLE DYSPLASIA; HYPERTROPHIC CARDIOMYOPATHY; LONG QT SYNDROME; MUTATION; PRIORITY JOURNAL; RESTRICTIVE CARDIOMYOPATHY; REVIEW; SHORT QT SYNDROME; SINUS NODE DYSFUNCTION;

EID: 56849091465     PISSN: 15660338     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (24)

1. 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;92:785-789.
2. Maron BJ, Towbin JA, Thiene G, et al., for the American Heart Association; Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; Council on Epidemiology and Prevention. 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;113:1807-1816.
3. Ahmad F, Seidman JG, Seidman CE. The genetic basis for cardiac remodeling. Annu Rev Genomics Hum Genet. 2005;6:185-216.
4. Keren A, Syrris P, McKenna WJ. Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression. Nat Clin Pract Cardiovasc Med. 2008;5:158-168.
5. Geisterfer-Lowrance AA, Kass S, Tanigawa G, et al. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell. 1990;62:999-1006.
6. Marian AJ, Roberts R. The molecular genetic basis for hypertrophic cardiomyopathy. J Mol Cell Cardiol. 2001;33:655-670.
7. Geier C, Gehmlich K, Ehler E, et al. Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. Hum Mol Genet. 2008 Jun 2 [Epub ahead of print].
8. Arad M, Benson DW, Perez-Atayde AR, et al. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest. 2002;109:357-362.
9. Kärkkäinen S, Peuhkurinen K. Genetics of dilated cardiomyopathy. Ann Med. 2007;39:91-107.
10. Grünig E, Tasman JA, Kücherer H, Franz W, Kübler W, Katus HA. Frequency and phenotypes of familial dilated cardiomyopathy. J Am Coll Cardiol. 31:186-194.
11. Sylvius N, Tesson F. Lamin A/C and cardiac diseases. Curr Opin Cardiol. 2006;21:159-165.
12. Bezzina CR, Remme CA. Dilated cardiomyopathy due to sodium channel dysfunction; what is the connection? Circulation: Arrhythmia and Electrophysiology. 2008;1:80-82.
13. Sen-Chowdhry S, Syrris P, McKenna WJ. Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol. 2007;50:1813-1821.
14. Wilde AA, Bezzina CR. Genetics of cardiac arrhythmias. Heart. 2005;91:1352-1358.
15. Medeiros-Domingo A, Kaku T, Tester DJ, et al. SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. Circulation. 2007;116:134-142.
16. Vatta M, Ackerman MJ, Ye B, et al. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation. 2006;114:2104-2212.
17. Chen L, Marquardt ML, Tester DJ, Sampson KJ, Ackerman MJ, Kass RS. Mutation of an A-kinase-anchoring protein causes long-QT syndrome. Proc Natl Acad Sci U S A. 2007;104:20990-20995.
18. Ueda K, Valdivia C, Medeiros-Domingo A, et al. Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proc Natl Acad Sci U S A. 2008;105:9355-9360.
19. Watanabe H, Koopmann TT, Le Scouarnec S, et al. Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J Clin Invest. 2008;118:2260-2268.
20. London B, Michalec M, Mehdi H, et al. Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. Circulation. 2007;116:2260-2268.
21. Antzelevitch C, Pollevick GD, Cordeiro JM, et al. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation. 2007;115:442-449.
22. Scicluna BP, Wilde AAM, Bezzina CR. The primary arrhythmia syndromes: same mutation, different manifestations. Are we starting to understand why? J Cardiovasc Electrophysiol. 2008;19:445-452.
23. Keren A, Syrris P, McKenna WJ. Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression. Nat Clin Pract Cardiovasc Med. 2008;5:158-168.
24. Warwick Daw E, Chen NE, Czernuszewicz G, et al. Genomewide mapping of modifier chromosomal loci for human hypertrophic cardiomyopathy. Hum Mol Genet. 2007;16:2463-2471.