Genetic test for dilated and hypertrophic cardiomyopathies: useful or less than useful for patients?
- PMID: 23905077
- PMCID: PMC3728810
Genetic test for dilated and hypertrophic cardiomyopathies: useful or less than useful for patients?
Abstract
Genetic testing for potentially heritable cardiomyopathies has advanced from basic scientific discovery to clinical application. Nowadays, genetic diagnostic tests for cardiomyopathies are clinically available. As a consequence is fundamental the understanding of the clinical utility, in terms of diagnosis and prognosis, of genetic test results. In addition, the genetic counselling, regarding risks, benefits and options, is recommended for all patients and their relatives. However the relation between genotype and phenotype remains often unclear, and there is frequently a variance of uncertain significance. Consequently, the genetic test should always be approached as one component of a comprehensive cardio-genetic evaluation. This review aims to explore when genetic tests are indicated in patients with dilated and hypertrophic cardiomyopathy.
Keywords: Dilated Cardiomyopathy; Genetic Testing; Hypertrophic Cardiomyopathy.
Similar articles
-
Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies.Cardiovasc Ultrasound. 2008 Dec 19;6:62. doi: 10.1186/1476-7120-6-62. Cardiovasc Ultrasound. 2008. PMID: 19099557 Free PMC article. Review.
-
Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy.Circ Heart Fail. 2009 May;2(3):253-61. doi: 10.1161/CIRCHEARTFAILURE.108.817346. Circ Heart Fail. 2009. PMID: 19808347 Free PMC article. Review.
-
Genetic Testing as a Guide for Treatment in Dilated Cardiomyopathies.Curr Cardiol Rep. 2022 Nov;24(11):1537-1546. doi: 10.1007/s11886-022-01772-8. Epub 2022 Aug 22. Curr Cardiol Rep. 2022. PMID: 35994197 Review.
-
Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion.Circulation. 2018 Sep 18;138(12):1184-1194. doi: 10.1161/CIRCULATIONAHA.118.034208. Circulation. 2018. PMID: 29764897 Free PMC article.
-
[Genetic screening of cardiomyopathies].Z Kardiol. 2000 Jul;89(7):638-40. doi: 10.1007/s003920070215. Z Kardiol. 2000. PMID: 10957791 German.
Cited by
-
Clinical Course and Treatment of Dilated Cardiomyopathy During Twenty Years of Follow-up.Med Arch. 2018 Feb;72(1):68-70. doi: 10.5455/medarh.2018.72.68-70. Med Arch. 2018. PMID: 29416222 Free PMC article.
References
-
- Michels VV, Moll PP, Miller FA, Tajik AJ, Chu JS, Driscoll DJ, et al. The Frequency of Familial Dilated Cardiomyopathy in a Series of Patients with Idiopathic Dilated Cardiomyopathy. N Engl J Med. 1992;326(2):77–82. - PubMed
-
- Baig MK, Goldman JH, Caforio AP, Coonar AS, Keeling PJ, McKenna WJ. Familial Dilated Cardiomyopathy: Cardiac Abnormalities Are Common in Asymptomatic Relatives and May Represent Early Disease. J Am Coll Cardiol. 1998;31(1):195–201. - PubMed
-
- Grunig E, Tasman JA, Kucherer H, Franz W, Kubler W, Katus HA. Frequency and Phenotypes of Familial Dilated Cardiomyopathy. J Am Coll Cardiol. 1998;31(1):186–94. - PubMed
-
- Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MR, Towbin JA, et al. Genetic Evaluation of Cardiomyopathy a Heart Failure Society of America Practice Guideline. J Card Fail. 2009;15(2):83–97. - PubMed
-
- Judge DP, Johnson NM. Genetic Evaluation of Familial Cardiomyopathy. J Cardiovasc Transl Res. 2008;1(2):144–54. - PubMed
LinkOut - more resources
Full Text Sources
Research Materials