Poor Prognosis of Rare Sarcomeric Gene Variants in Patients with Dilated Cardiomyopathy

Clinical and Translational Science

Volumn 6, Issue 6, 2013, Pages 424-428

  Merlo, Marco ^a,b   Sinagra, Gianfranco ^b   Carniel, Elisa ^a   Slavov, Dobromir ^a   Zhu, Xiao ^a   Barbati, Giulia ^b   Spezzacatene, Anita ^b   Ramani, Federica ^b   Salcedo, Ernesto ^a   Di Lenarda, Andrea ^c   Mestroni, Luisa ^a   Taylor, Matthew R G ^a  

^a UNIVERSITY OF COLORADO   (United States)

^b UNIVERSITY OF TRIESTE   (Italy)

^c Cardiovascular Center ASS1   (Italy)

Author keywords

Cardiomyopathy; Genes; Genetics; Molecular genetics; Phenotyping; Prognosis

Indexed keywords

ADULT; AGED; ARTICLE; CARDIAC TROPONIN T GENE; CARDIOVASCULAR RISK; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; EVENT FREE SURVIVAL; FEMALE; GENE; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HEART FAILURE; HEART GRAFT; HEART VENTRICLE FIBRILLATION; HETEROZYGOTE; HUMAN; LONG TERM SURVIVAL; LONGITUDINAL STUDY; MAJOR CLINICAL STUDY; MALE; MYOSIN BINDING PROTEIN C GENE; MYOSIN HEAVY CHAIN ALPHA GENE; MYOSIN HEAVY CHAIN BETA GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROGNOSIS; SARCOMERIC GENE; SUDDEN CARDIAC DEATH; TITIN GENE;

CARDIOMYOPATHY; GENES; GENETICS; MOLECULAR GENETICS; PHENOTYPING; PROGNOSIS;

ADULT; AGE FACTORS; CARDIAC MYOSINS; CARDIOMYOPATHY, DILATED; CARRIER PROTEINS; COLORADO; CONNECTIN; DEATH, SUDDEN, CARDIAC; DISEASE-FREE SURVIVAL; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HEART FAILURE; HEART TRANSPLANTATION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; ITALY; KAPLAN-MEIER ESTIMATE; MALE; MIDDLE AGED; MYOSIN HEAVY CHAINS; PHENOTYPE; PROPORTIONAL HAZARDS MODELS; REGISTRIES; RETROSPECTIVE STUDIES; RISK FACTORS; SARCOMERES; TIME FACTORS; TROPONIN T; VENTRICULAR FIBRILLATION;

EID: 84890228387     PISSN: 17528054     EISSN: 17528062     Source Type: Journal    
DOI: 10.1111/cts.12116     Document Type: Article

References (33)

1. Richardson P, McKenna W, Bristow M, Maisch B, Mautner B, O'Connell J, Olsen E, Thiene G, Goodwin J, Gyarfas I, et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation 1996; 93: 841-842.
2. Baig MK, Goldman JH, Caforio ALP, Coonar AS, Keeling PJ, McKenna WJ. Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease. J Am Coll Cardiol. 1998; 31: 195-201.
3. Mestroni L, Rocco C, Gregori D, Sinagra G, Di Lenarda A, Miocic S, Vatta M, Pinamonti B, Muntoni F, Caforio AL, et al. Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. J Am Coll Cardiol. 1999; 34: 181-190.
4. Hershberger RE, Morales A, Siegfried JD. Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals. Genet Med. 2011; 12: 655-667.
5. Watkins H, Ashrafian H, Redwood C. Inherited cardiomyopathies. N Engl J Med. 2011; 364: 1643-1656.
6. Chang AN, Potter JD. Sarcomeric protein mutations in dilated cardiomyopathy. Heart Fail Rev. 2005; 10: 225-235.
7. Moller DV, Andersen PS, Hedley P, Ersbøll MK, Bundgaard H, Moolman-Smook J, Christiansen M, Køber L. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. Eur J Hum Genet. 2009; 17: 1241-1249.
8. Carniel E, Taylor MR, Sinagra G, Di Lenarda A, Ku L, Fain PR, Boucek MM, Cavanaugh J, Miocic S, Slavov D, et al. Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. Circulation 2005; 112: 54-59.
9. Hershberger RE, Norton N, Morales A, Li D, Siegfried JD, Gonzalez-Quintana J. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ Cardiovasc Genet. 2010; 3: 155-161.
10. Hershberger RE, Parks SB, Kushner JD, Li D, Ludwigsen S, Jakobs P, Nauman D, Burgess D, Partain J, Litt M. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin Transl Sci. 2008; 1: 21-26.
11. Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, Conner L, DePalma SR, McDonough B, Sparks E, et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012; 366: 619-628.
12. Lakdawala NK, Thune JJ, Colan SD, Cirino AL, Farrohi F, Rivero J, McDonough B, Sparks E, Orav EJ, Seidman JG, et al. Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy. Circ Cardiovasc Genet. 2012; 5: 503-510.
13. Mestroni L, Maisch B, McKenna WJ, Schwartz K, Charron P, Rocco C, Tesson F, Richter A, Wilke A, Komajda M. Guidelines for the study of familial dilated cardiomyopathies. Eur Heart J. 1999; 20: 93-102.
14. Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MR, Towbin JA. Heart Failure Society of America. Genetic evaluation of cardiomyopathy-a Heart Failure Society of America practice guideline. J Card Fail. 2009; 15: 83-97.
15. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248-249.
16. Reese MG, Eeckman FH, Kulp D, Haussler D. Improved splice site detection in Genie. J Comput Biol. 1997; 4: 311-323.
17. Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, Smoot L, Mullen MP, Woolf PK, Wigle ED, et al. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med 2000; 343: 1688-1696.
18. Villard E, Duboscq-Bidot L, Charron P, Benaiche A, Conraads V, Sylvius N, Komajda M. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. Eur Heart J 2005; 26: 794-803.
19. Daehmlow S, Erdmann J, Knueppel T, Gille C, Froemmel C, Hummel M, Hetzer R, Regitz-Zagrosek V. Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. Biochem Biophys Res Commun. 2002; 298: 116-120.
20. Lakdawala NK, Dellefave L, Redwood CS, Sparks E, Cirino AL, Depalma S, Colan SD, Funke B, Zimmerman RS, Robinson P, et al. Familial dilated cardiomyopathy caused by an alpha- tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy. J Am Coll Cardiol. 2010; 55: 320-329.
21. Mogensen J, Murphy RT, Shaw T, Bahl A, Redwood C, Watkins H, Burke M, Elliott PM, McKenna WJ. Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol. 2004; 44: 2033-2040.
22. Karkkainen S, Helio T, Jaaskelainen P, Miettinen R, Tuomainen P, Ylitalo K, Kaartinen M, Reissell E, Toivonen L, Nieminen MS, et al. Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy. Eur J Heart Fail. 2004; 6: 861-868.
23. Blair E, Redwood C, de Jesus Oliveira M, Moolman-Smook JC, Brink P, Corfield VA, Ostman-Smith I, Watkins H. Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy. Circ Res. 2002; 90: 263-269.
24. Ehlermann P, Weichenhan D, Zehelein J, Steen H, Pribe R, Zeller R, Lehrke S, Zugck C, Ivandic BT, Katus HA. Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene. BMC Med Genet 2008; 9: 95-105.
25. Harris SP, Lyons RG, Bezold KL. In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament. Circ Res 2011; 108: 751-764.
26. Roncarati R, Latronico MV, Musumeci B, Aurino S, Torella A, Bang ML, Jotti GS, Puca AA, Volpe M, Nigro V, et al. Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in italian patients with hypertrophic cardiomyopathy. J Cell Physiol 2011; 226: 2894-2900.
27. Sun N, Yazawa M, Liu J, Han L, Sanchez-Freire V, Abilez OJ, Navarrete EG, Hu S, Wang L, Lee A, et al. Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy. Sci Transl Med 2012; 4: 130ra47.
28. Towbin JA, Lorts A. Arrhythmias and dilated cardiomyopathy common pathogenetic pathways? J Am Coll Cardiol 2011; 57: 2169-2171.
29. Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol 2004; 44: 1903-1910.
30. Bick AG, Flannick J, Ito K, Cheng S, Vasan RS, Parfenov MG, Herman DS, DePalma SR, Gupta N, Gabriel SB, et al. Burden of rare sarcomere gene variants in the Framingham and Jackson heart study cohorts. Am J Hum Genet 2012; 91: 513-519.
31. Taylor MR, Fain PR, Sinagra G, Robinson ML, Robertson AD, Carniel E, Di Lenarda A, Bohlmeyer TJ, Ferguson DA, Brodsky GL. Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J Am Coll Cardiol 2003; 41: 771-780.
32. Taylor MR, Slavov D, Gajewski A, Vlcek S, Ku L, Fain PR, Carniel E, Di Lenarda A, Sinagra G, Boucek MM, et al. Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy. Hum Mutat 2005; 26: 566-574.
33. vanRijsingen IA, Arbustini E, Elliott PM, Mogensen J, Hermans-van Ast JF, van der Kooi AJ, van Tintelen JP, van den Berg MP, Pilotto A, Pasotti M, et al. Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study. J Am Coll Cardiol 2012; 59: 493-500.