Genetic factors have an important role in the pathogenesis of dilated cardiomyopathy
(DCM) and can be a primary cause of disease.
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Heart, Lung and CirculationAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- 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
- Guidelines for the study of familial dilated cardiomyopathies: Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy.Eur Heart J. 1999; 20: 92-102
- Review and meta-analysis of the frequency of familial dilated cardiomyopathy.Am J Cardiol. 2011; 108: 1171-1176
- The epidemiology of childhood cardiomyopathy in Australia.N Engl J Med. 2003; 348: 1639-1646
- Dilated cardiomyopathy in children: review of all presentations to a children’s hospital over a 5-year period and the impact of family cardiac screening.J Paediatr Child Health. 2015; 51: 595-599
- Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathy.J Card Fail. 2006; 12: 422-429
- Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction system disease.N Engl J Med. 1999; 341: 1715-1724
- 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. 2005; 83: 79-83
- Clinical profiles of four large pedigrees with familial dilated cardiomyopathy: preliminary recommendations for clinical practice.J Am Coll Cardiol. 1999; 34: 837-847
- Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.Eur J Heart Fail. 2013; 15: 376-384
- Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy.Circulation. 2010; 121: 2169-2175
- Genetic evaluation of cardiomyopathy – a Heart Failure Society of America Practice Guideline.J Card Fail. 2009; 15: 83-97
- Prognostic relevance of gene-environment interactions in patients with dilated cardiomyopathy: applying the MOGE(S) classification.J Am Coll Cardiol. 2015; 66: 1313-1323
- Results of a comprehensive diagnostic work-up in “idiopathic” dilated cardiomyopathy.Open Heart. 2015; 2: e000271
- Genetics and disease of ventricular muscle.Cold Spring Harb Perspect Med. 2014; 4: a021063
- Truncations of titin causing dilated cardiomyopathy.N Engl J Med. 2012; 366: 619-628
- Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.Sci Transl Med. 2015; 7: 270ra6
- Titin truncating mutations: a rare cause of dilated cardiomyopathy in the young.Prog Ped Cardiol. 2016; 40: 41-45
- HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies.Europace. 2011; 13: 1077-1109
- 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
- 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
- Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.Eur J Med Genet. 2011; 54: e570-e575
- Genetic testing for dilated cardiomyopathy in clinical practice.J Card Fail. 2012; 18: 296-303
- Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years’ experience.Eur J Heart Fail. 2013; 15: 628-636
- The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.Genet Med. 2014; 16: 601-608
- Atlas of the clinical genetics of human dilated cardiomyopathy.Eur Heart J. 2015; 36: 1123-1135
- Overview of high throughput sequencing technologies to elucidate molecular pathways in cardiovascular diseases.Circ Res. 2013; 112: 1613-1623
- Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.Hum Mutat. 2013; 34: 1035-1042
- Exome sequencing as a tool for Mendelian disease gene discovery.Nat Rev Genet. 2011; 12: 745-755
- Medicine. The ultimate genetic test.Science. 2012; 336: 1110-1112
- A systematic survey of loss-of-function variants in human protein-coding genes.Science. 2012; 335: 823-828
- Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.Circ Cardiovasc Genet. 2012; 5: 167-174
- Population-based variation in cardiomyopathy genes.Circ Cardiovasc Genet. 2012; 5: 391-399
- Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.Circ Cardiovasc Genet. 2012; 5: 602-610
- Primary prevention of sudden death in patients with lamin A/C gene mutations.N Engl J Med. 2006; 354: 209-210
- R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.J Am Coll Cardiol. 2012; 60: 1566-1573
- Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease.J Am Coll Cardiol. 1998; 31: 195-201
- Histopathologic changes in asymptomatic relatives of patients with idiopathic dilated cardiomyopathy.Am J Cardiol. 1999; 83: 281-283
- Abnormal cardiopulmonary exercise variables in asymptomatic relatives of patients with dilated cardiomyopathy who have left ventricular enlargement.Heart. 2000; 83: 511-517
- Immunohistologic evidence of myocardial disease in apparently healthy relatives of patients with dilated cardiomyopathy.J Am Coll Cardiol. 2002; 39: 455-462
- Prospective familial assessment in dilated cardiomyopathy. Cardiac autoantibodies predict disease development in asymptomatic relatives.Circulation. 2007; 115: 76-83
- Frequency of development of idiopathic dilated cardiomyopathy among relatives of patients with idiopathic dilated cardiomyopathy.Am J Cardiol. 2003; 91: 1389-1392
- Echocardiographic evaluation in asymptomatic relatives of patients with dilated cardiomyopathy reveals preclinical disease.Ann Intern Med. 2005; 143: 108-115
- Evaluation of left ventricular enlargement as a marker of early disease in familial dilated cardiomyopathy.Circ Cardiovasc Genet. 2011; 4: 342-348
Article info
Publication history
Published online: June 07, 2017
Identification
Copyright
© 2017 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by Elsevier B.V. All rights reserved.
