Sarcomeric hypertrophic cardiomyopathy: Genetic profile in a Portuguese population

Revista Portuguesa de Cardiologia (English Edition) - Tập 31 - Trang 577-587 - 2012
Dulce Brito1,2, Gabriel Miltenberger-Miltenyi3, Sónia Vale Pereira3, Doroteia Silva2, António Nunes Diogo2, Hugo Madeira1
1Faculdade de Medicina de Lisboa, Centro de Cardiologia da Universidade de Lisboa (CCUL), Lisboa, Portugal
2Serviço de Cardiologia I, Centro Hospitalar de Lisboa Norte, E.P.E., Lisboa, Portugal
3Instituto de Medicina Molecular, Faculdade de Medicina de Lisboa, Lisboa, Portugal

Tài liệu tham khảo

Elliott, 2008, Classification of the cardiomyopathies: a position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases, Eur Heart J, 29, 270, 10.1093/eurheartj/ehm342 Richard, 2006, The genetic bases of cardiomyopathies, J Am Coll Cardiol, 48, A79, 10.1016/j.jacc.2006.09.014 Bos, 2007, Genetics of hypertrophic cardiomyopathy: one, two, or more diseases?, Curr Opin Cardiol, 22, 193, 10.1097/HCO.0b013e3280e1cc7f Erdmann, 2003, Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy, Clin Genet, 64, 339, 10.1034/j.1399-0004.2003.00151.x Richard, 2003, Hypertrophic cardiomyopathy distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy, Circulation, 107, 2227, 10.1161/01.CIR.0000066323.15244.54 Van Driest, 2004, Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy, J Am Coll Cardiol, 44, 602, 10.1016/j.jacc.2004.04.039 Van Driest, 2004, Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy, J Am Coll Cardiol, 44, 1903, 10.1016/j.jacc.2004.07.045 Morita, 2006, Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham heart study, Circulation, 113, 2697, 10.1161/CIRCULATIONAHA.105.593558 Olivotto, 2008, Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy, Mayo Clin Proc, 83, 630, 10.1016/S0025-6196(11)60890-2 Maron, 1995, 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, 92, 785, 10.1161/01.CIR.92.4.785 Marian, 2003, To screen or not is not the question – it is when and how to screen, Circulation, 107, 2171, 10.1161/01.CIR.0000068686.12195.C2 Van Driest, 2005, Sarcomeric genotyping in hypertrophic cardiomyopathy, Mayo Clin Proc, 80, 463, 10.4065/80.4.463 Girolami, 2006, A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy, J Cardiovasc Med (Hagerstown), 7, 601, 10.2459/01.JCM.0000237908.26377.d6 Garcia-Castro, 2009, Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3 and TPM1 in patients with hypertrophic cardiomyopathy, Rev Esp Cardiol, 62, 48, 10.1016/S0300-8932(09)70020-X Millat, 2010, Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy, Eur J Med Genet, 53, 261, 10.1016/j.ejmg.2010.07.007 Cardim, 2005, Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene, Rev Port Cardiol, 24, 1463 Brito, 2005, Malignant mutations in hypertrophic cardiomyopathy: fact or fancy?, Rev Port Cardiol, 24, 1137 Charron, 1997, Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in a genotyped adult population, Circulation, 96, 214, 10.1161/01.CIR.96.1.214 Calabrese, 2009, Functional annotations improve the predictive score of human disease related mutations in proteins, Human Mutat, 30, 1237, 10.1002/humu.21047 Tesson, 1997, The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation, J Mol Cell Cardiol, 29, 831, 10.1006/jmcc.1996.0332 Brito, 2003, Familial hypertrophic cardiomyopathy: the same mutation, different prognosis. Comparison of two families with a long follow-up, Rev Port Cardiol, 22, 1445 Watkins, 1992, Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations, J Clin Invest, 90, 1666, 10.1172/JCI116038 Mörner, 2003, Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden, J Mol Cell Cardiol, 35, 841, 10.1016/S0022-2828(03)00146-9 Song, 2005, Mutations profile in Chinese patients with hypertrophic cardiomyopathy, Clin Chim Acta, 351, 209, 10.1016/j.cccn.2004.09.016 Perrot, 2005, Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy, J Mol Med, 83, 468, 10.1007/s00109-005-0635-7 Havndrup, 2003, Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations, Cardiovasc Res, 57, 347, 10.1016/S0008-6363(02)00711-3 Moolman, 1995, Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy, Hum Mutat, 6, 197, 10.1002/humu.1380060219 Gruver, 1999, Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation, Am J Cardiol, 83, 13H, 10.1016/S0002-9149(99)00251-9 Ingles, 2005, Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling, J Med Genet, 42, e59, 10.1136/jmg.2005.033886 Watkins, 1995, Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy, N Engl J Med, 332, 1058, 10.1056/NEJM199504203321603 Elliott, 1999, Late-onset hypertrophic cardiomyopathy caused by a mutation in the cardiac troponin T gene, N Engl J Med, 341, 1855, 10.1056/NEJM199912093412416 Theopistou, 2004, Clinical features of hypertrophic cardiomyopathy caused by an Arg278Cys missense mutation in the cardiac troponin T gene, Am J Cardiol, 94, 246, 10.1016/j.amjcard.2004.03.077 Mogensen, 2004, Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy, J Am Coll Cardiol, 44, 2315, 10.1016/j.jacc.2004.05.088 Mogensen, 1999, Sudden cardiac death in familial hypertrophic cardiomyopathy is associated with a novel mutation in the troponin I gene, Circulation, 100 Garcia-Castro, 2003, Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients, Clin Chem, 49, 1279, 10.1373/49.8.1279 Penicka, 2009, The effects of candesartan on left ventricular hypertrophy and function in nonobstructive hypertrophic cardiomyopathy: a pilot randomized study, J Mol Diagn, 11, 35, 10.2353/jmoldx.2009.080082