Abstract
The genetic evaluation of dilated cardiomyopathy (DCM) has been challenging, owing
in large part to marked genetic heterogeneity. However, lower costs from next-generation
sequencing have enabled gene discovery and the expansion of genetic testing panels.
These advances have improved molecular diagnostics and predictive testing in DCM.
We provide a rationale and recommendation for clinical genetic testing in all DCM
cases.
Résumé
L’évaluation génétique de la cardiomyopathie dilatée (CMD) s’est avérée difficile,
en grande partie en raison de la très grande hétérogénéité génétique. Cependant, les
coûts plus faibles du séquençage de nouvelle génération ont permis la découverte des
gènes et le développement des panels de dépistage génétique. Ces avancées ont amélioré
les diagnostics moléculaires et le dépistage présymptomatique de la CMD. Nous donnons
les raisons et les recommandations qui justifient le dépistage génétique clinique
dans tous les cas de CMD.
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References
- Dilated cardiomyopathy: the complexity of a diverse genetic architecture.Nat Rev Cardiol. 2013; 10: 531-547
- Heart disease and stroke statistics—2015 update: a report from the American Heart Association.Circulation. 2015; 131: e29-322
- Genetic evaluation of cardiomyopathy—a Heart Failure Society of America practice guideline.J Card Fail. 2009; 15: 83-97
- 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
- Where genome meets phenome: rationale for integrating genetic and protein biomarkers in the diagnosis and management of dilated cardiomyopathy and heart failure.J Am Coll Cardiol. 2012; 60: 283-289
- Incidence, causes, and outcomes of dilated cardiomyopathy in children.JAMA. 2006; 296: 1867-1876
- Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.Prog Pediatr Cardiol. 2011; 31: 39-47
- Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.J Card Fail. 2012; 18: 396-403
- The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy.N Engl J Med. 1992; 326: 77-82
- Frequency and phenotypes of familial dilated cardiomyopathy.J Am Coll Cardiol. 1998; 31: 186-194
- Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease.J Am Coll Cardiol. 1998; 31: 195-201
- Idiopathic dilated cardiomyopathy: familial prevalence and HLA distribution.Heart. 1997; 77: 549-552
- Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes.Heart Rhythm. 2013; 10: e85-108
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Genet Med. 2015; 17: 405-423
- ClinGen - The Clinical Genome Resource.N Engl J Med. 2015; 372: 2235-2242
Article info
Publication history
Published online: July 09, 2015
Accepted:
June 17,
2015
Received:
April 1,
2015
Footnotes
See page 1311 for disclosure information.
Identification
Copyright
© 2015 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.
