Laminopatias: uma caixa de Pandora com insuficiência cardíaca, bradiarritmias e morte súbita

Revista Portuguesa de Cardiologia - Tập 34 - Trang 139.e1-139.e5 - 2015
Nuno Cabanelas1, Vítor Paulo Martins1
1Serviço de Cardiologia, Hospital Distrital de Santarém, Santarém, Portugal

Tài liệu tham khảo

Lin, 1993, Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C, J Biol Chem., 268, 16321, 10.1016/S0021-9258(19)85424-8 Hutchinson, 2004, A type lamins: guardians of the soma?, Nat Cell Biol., 6, 1062, 10.1038/ncb1104-1062 Dechat, 2008, Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin, Genes Dev., 22, 832, 10.1101/gad.1652708 Hegele, 2005, LMNA mutation position predicts organ system involvement in laminopathies, Clin Genet, 68, 31, 10.1111/j.1399-0004.2005.00447.x Bonne, 1999, Mutations in gene encoding lamin A/C cause autosomal dominant Emery‐Dreifuss muscular dystrophy, Nat Genet, 2, 285, 10.1038/6799 Worman, 2004, How do mutations in lamins A and C cause disease?, J Clin Invest, 113, 349, 10.1172/JCI20832 Van Tintelen, 2007, Severe myocardial fibrosis caused by a deletion of the 5’ end of the lamin A/C gene, J Am Coll Cardiol., 49, 2430, 10.1016/j.jacc.2007.02.063 Otomo, 2005, Electrophysiological and histopathological characteristics of progressive atrioventricular block accompanied by familial dilated cardiomyopathy caused by a novel mutation of lamin A/C gene, J Cardiovasc Electrophysiol., 16, 137, 10.1046/j.1540-8167.2004.40096.x Luk, 2009, Dilated cardiomyopathy: a review, J Clin Pathol, 62, 219, 10.1136/jcp.2008.060731 Hershberger, 2011, Update 2011: clinical and genetic issues in familial dilated cardiomyopathy, J Am Coll Cardiol, 57, 1641, 10.1016/j.jacc.2011.01.015 Parks, 2008, Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy, Am Heart J., 156, 161, 10.1016/j.ahj.2008.01.026 Taylor, 2003, Natural history of dilated cardiomyopathy due to lamin A/C gene mutations, J Am Coll Cardiol, 41, 771, 10.1016/S0735-1097(02)02954-6 Arbustini, 2002, Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect‐related disease, J Am Coll Cardiol, 39, 981, 10.1016/S0735-1097(02)01724-2 Ackerman, 2011, HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA), Europace, 13, 1077, 10.1093/europace/eur245 Martins, 2008, Estudo português de miocardiopatias dilatadas familiares. Estudo FATIMA, Rev Port Cardiol, 27, 1029 Pasotti, 2008, Long‐term outcome and risk stratification in dilated cardiolaminopathies, J Am Coll Cardiol, 52, 1250, 10.1016/j.jacc.2008.06.044 McNair, 2004, Familial Cardiomyopathy Registry Research Group. SCN5A mutation associated with dilated cardiomyopathy, conduction disorder and arrhythmia, Circulation, 110, 2163, 10.1161/01.CIR.0000144458.58660.BB Van Berlo, 2005, Meta‐analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?, J Mol Med, 83, 79, 10.1007/s00109-004-0589-1 Van Rijsingen, 2012, Risk factors for malignant ventricular arrhythmias in Lamin A/C mutation carriers – A European Cohort Study, J Am Coll Cardiol, 59, 493, 10.1016/j.jacc.2011.08.078 Hasselberg, 2014, Risk prediction of ventricular arrhythmias and myocardial function in Lamin A/C mutation‐positive subjects, Europace., 16, 563, 10.1093/europace/eut291 Muchir, 2007, Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery‐Dreifuss muscular dystrophy, J Clin Invest, 117, 1282, 10.1172/JCI29042 Muchir, 2009, Inhibition of extracellular signal‐regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A‐type lamins, Hum Mol Genet, 18, 241, 10.1093/hmg/ddn343 Meune, 2006, Primary prevention of sudden death in patients with lamin A/C gene mutations, N Engl J Med., 354, 209, 10.1056/NEJMc052632