Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy

Molecular and Cellular Biochemistry

Volumn 331, Issue 1-2, 2009, Pages 187-192

  Rai, Taranjit Singh ^a   Ahmad, Shamim ^a   Ahluwalia, Tarunveer Singh ^a   Ahuja, Monica ^a   Bahl, Ajay ^a   Saikia, Uma Nahar ^a   Singh, Balvinder ^b   Talwar, Kewal K ^a   Khullar, Madhu ^a  

^a POSTGRADUATE INSTITUTE OF MEDICAL EDUCATION AND RESEARCH   (India)

^b INSTITUTE OF MICROBIAL TECHNOLOGY   (India)

Author keywords

Hypertrophic cardiomyopathy; Mutations; MYH7; Restrictive cardiomyopathy; TNNI3

Indexed keywords

MYOSIN HEAVY CHAIN BETA; TROPONIN I;

ADULT; AGED; ARTICLE; CONGESTIVE HEART FAILURE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC SCREENING; HEART ATRIUM FIBRILLATION; HEART VENTRICLE HYPERTROPHY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; IDIOPATHIC RESTRICTIVE CARDIOMYOPATHY; INDIAN; MAJOR CLINICAL STUDY; MALE; RESTRICTIVE CARDIOMYOPATHY; ADOLESCENT; AMINO ACID SUBSTITUTION; ASIAN; ECHOGRAPHY; FAMILY; GENETICS; INDIA; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; CARDIOMYOPATHY, HYPERTROPHIC; CARDIOMYOPATHY, RESTRICTIVE; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HUMANS; INDIA; MALE; MIDDLE AGED; PEDIGREE; YOUNG ADULT;

EID: 74049091821     PISSN: 03008177     EISSN: 15734919     Source Type: Journal    
DOI: 10.1007/s11010-009-0157-7     Document Type: Article

References (12)

1. Mogensen J, Murphy RT, Kubo T, Bahl A, Moon JC, Klausen IC, Elliott PM, McKenna WJ (2004) Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. J Am Coll Cardiol 44:2315-2325. doi:10.1r016/j.jacc.2004.05.088
2. Kubo T, Gimeno JR, Bahl A, Steffensen U, Steffensen M, Osman E, Thaman R, Mogensen J, Elliott PM, Doi Y, McKenna WJ (2007) Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype. J Am Coll Cardiol 49:2419-2426. doi:10. 1016/j.jacc. 2007.02.061
3. Kushwaha SS, Fallon JT, Fuster V (1997) Restrictive cardiomyopathy. N Engl J Med 336:267-276. doi:10.1056/NEJM199701233360407 (Pubitemid 27044630)
4. Jarcho JA, McKenna W, Pare JA, Solomon SD, Holcombe RF, Dickie S, Levi T, Donis-Keller H, Seidman JG, Seidman CE (1989) Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med 321:1372-1378
5. Geisterfer-Lowrance AA, Kass S, Tanigawa G, Vosberg HP, McKenna W, Seidman CE, Seidman JG (1990) A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell 62:999-1006. doi: 10.1016/0092-8674(90) 90274-I
6. Bos JM, Ommen SR, Ackerman MJ (2007) Genetics of hypertrophic cardiomyopathy: one, two, or more diseases? Curr Opin Cardiol 22:193-199. doi:10.1097/HCO.0b013e3280e1cc7f (Pubitemid 46581194)
7. Daehmlow S, Erdmann J, Knueppel T, Gille C, Froemmel C, Hummel M, Hetzer R, Regitz-Zagrosek V (2002) Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. Biochem Biophys Res Commun 298:116-120. doi:10.1016/S0006-291X(02)02374-4 (Pubitemid 35205395)
8. Mogensen J, Kubo T, Duque M, Uribe W, Shaw A, Murphy R, Gimeno JR, Elliott P, McKenna WJ (2003) Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. J Clin Invest 111:209-216
9. Koppole S, Smith JC, Fischer S (2006) Simulations of the myosin II motor reveal a nucleotide-state sensing element that controls the recovery stroke. J Mol Biol 361:604-616. doi:10. 1016/j.jmb. 2006.06.022
10. Du J, Zhang C, Liu J, Sidky C, Huang XP (2006) A point mutation (R192H) in the C-terminus of human cardiac troponin I causes diastolic dysfunction in transgenic mice. Arch Biochem Biophys 456:143-150. doi:10.1016/j.abb.2006.08.018 (Pubitemid 44880289)
11. Varnava AM, Elliott PM, Baboonian C, Davison F, Davies MJ, McKenna WJ (2001) Hypertrophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease. Circulation 104:1380-1384. doi:10.1161/hc3701. 095952
12. Spirito P, Bellone P, Harris KM, Bernabo P, Bruzzi P, Maron BJ (2000) Magnitude of left ventricular hypertrophy and risk of sudden death in hypertrophic cardiomyopathy. N Engl J Med 342:1778-1785. doi:10.1056r/ NEJM200006153422403